Peds/Strab Flashcards
(296 cards)
<p>What is the size of the eye at birth?</p>
<p>66% of that of the adult eye</p>
<p>What is the common refractive error in children?</p>
<p>Hyperopia which increases upto 7 years of age and then decreases</p>
<p>Which internal eye muscle is poorly developed at birth?</p>
<p>Dilator pupillae</p>
<p>What are the tools to check for VA in children?</p>
<p>VEP in infancyPreferential looking in first months of life</p>
<p>What is the normal axial length of an eye at birth?</p>
<p>17 mm, In adults it is 24 mm</p>
<p>What is the normal corneal diameter of a newborn?</p>
<p>Newborn: 9.51 year of life: 10.5Adult: 12 mm</p>
<p>What is the Ddx of an INFANT with poor vision but NORMAL ocular structures?</p>
<p>LCA, optic nerve hypoplasia, delay in maturation, optic atrophy, blue cone monochromatism, achromatopsia, CSNB, TORCH Infections, cortical visual impairment</p>
<p>Define the following terms:1. Anophthalmos2. Microphthalmos3. Nanophthalmos4. Buphthalmos5. Cryptophthalmos</p>
<p>1. Anophthalmos: B/l absence of eyes, hypoplastic orbits2. Microphthalmos: Small disorganized eye3. Nanophthalmos: Small eye with normal anatomy4. Buphthalmos: Large eye with elevated IOP5. Cryptophthalmos: Failure of differentiation of eyelid and anterior eye structures</p>
<p>What is the most common organism that causes preseptal cellulitis in children?</p>
<p>S. Aureus</p>
<p>What is the most common organism that causes postseptal cellulitis in children?</p>
<p>S. Aureus, S. pneumo</p>
<p>What are the treatment guidelines for emergent drainage in orbital cellulitis?</p>
<p>Age> 9 yearsFrontal sinusitisNon medial locationLarge sizeAnaerobic infection (gas on the CT)Recurrence after prior drainageChronic sinusitis (polyps)Optic neuropathyDental origin</p>
<p>What is a dermoid cyst?</p>
<p>It is a choristoma.The most common benign orbital lesion in childhood</p>
<p>How does a dermoid cyst appear on CT scan?</p>
<p>"Well circumscribed mass with bony remodeling"</p>
<p>What is the treatment for dermoid cyst?</p>
<p>Complete excision W/O rupture as it may cause granulomatous inflammation</p>
<p>What is epidermoid cyst?</p>
<p>Another choristoma with epidermal elements. Usually filled with keratin. Complete excision is requires as acute rupture may cause inflammation</p>
<p>What is a teratoma?</p>
<p>Rare cystic tumor arising from two or more germinal layers (ectoderm+endoderm+/-mesoderm)</p>
<p>What is the most common benign tumor in children?</p>
<p>Capillary hemangioma</p>
<p>What are the characteristics of capillary hemangioma?</p>
<p>Often manifests in the first few weeks of life and enlarges over for the first 6-12 months of life with complete regression by age 5-8 years in 80% of cases</p>
<p>What is the most common location for capillary hemangioma?</p>
<p>SN quadrant of the ORBIT and medial upper eyelid</p>
<p>How to distinguish a port wine stain from hemangioma?</p>
<p>Port wine stain DO NOT blanch with pressure</p>
<p>What is the pathology of capillary hemangioma?</p>
<p>Unencapsulated mass with numerous blood-filled channels lined by endothelium.</p>
<p>What is the most common treatment for capillary hemangioma?</p>
<p>Topical timolol. Treatment only if tumor causes ptosis, amblyopia, astigmatism with anisometropia or strabimus</p>
<p>Name this syndrome:High output congestive heart failure with multiple visceral capillary hemangioma</p>
<p>Kassabach-Merritt syndrome: Consumptive coagulopathy with platelet trapping-resulting in thrombocytopenia and cardiac failure</p>
<p>Name two conditions that cause intermittent proptosis?</p>
<p>Lymphangioma and orbital varix</p>
What is the most common location of lymphagioma?
Superonasal quadrant of the ORBIT. Acute flares with URI.
What is the pathology of lymphangioma?
Unencapsulated mass with numerous lymph-filled channels lined by endothelium.
Name the proptosis that worsens with crying or straining?
Orbital varix
Name few choristomas?
Dermoid, epidermoid, lymphangioma
Is Neurofibroma, a hamartoma or choristoma?
Hamartoma
What is the difference between hamartoma and choristoma?
Hamartoma: abnormal tissue in normal locationChoristoma: Normal tissue in wrong location
What does "S-shaped eyelid" indicates?
Plexiform neurofibroma
What are the pathology of neurofibroma?
Well circumscribed, unencapsulated proliferation of schwann cells, perineural cells and axonsStains with S-100
What systemic disease is associated with optic nerve glioma?
NF 1
What is the most common primary orbital malignancy in children?
Rhabdomyosarcoma
What is the average age of diagnosis of Rhabdomyosarcoma?
8 years. (90% before age 16)
What is the most common location of rhabdomyosarcoma?
Superonasal orbit. Usually unilateral, acute presentation
What is the most common site of metastases of Rhabdo?
Chest
What are the types of Rhabdo?
Embryonal: Most commonPleomorphic: Least common, best prognosisAlveolar: Poorest prognosis(very high mortality)Botryoid: Subtype of embryonal
What are the treatment options for Rhabdo?
Urgent bx, XRT or chemo for microscopic metastases
Child with acute proptosis and periorbital ecchymosis (raccoon eyes). What is the diagnosis?
Neuroblastoma
What is the most common site of metastases for neuroblastoma?
In children it is boneIn adults it is uveal tract
Name the group of disorders that result from abnormal proliferation of histiocytes (Langerhans cells)?
Histiocytosis X (Langerhans cell histiocytosis)
Name the diagnosis:CT finding of "lytic lesions of orbital roof with progressive proptosis"
Eosinophic granuloma
What is the triad of langerhans cell histiocytosis (LCH) or (Hand-Schuller-Christian disease)
ProptosisLytic skull defectsDiabetes INSIPIDUS
What is the most common location of LCH?
Superolateral orbit
What is the most common viral infection associated with Burkitt's lymphoma?
EBV
What sinus is usually affected by Burkitt's lymphoma?
Maxillary sinus in black children
Name the diagnosis:"Path with "malignant B cells in "starry sky" appearance of histiocytes"
Burkitt's lymphoma
What is the most common week of gestation for failure of facial fissures to close?
6th-7th week of gestation
What craniofacial syndrome is associated with lower lid colobomas?
Goldenhar's syndrome
Name the syndromeOther name: Oculoauriculovertebral dysplasiaAbnormalities of 1st and 2nd brachial archesAssociated with Duane's syndrome
Goldenhar's syndrome
Name the syndrome.Proptosis, V-pattern XT, nystagmus, hypertelorism, shallow orbits, optic atrophy-due to kinking or stretching of optic nerve or narrowing of optic canal
Crouzon's syndrome. AD or sporadic
Name the syndrome. "Crouzon's + syndactyly"
Apert's syndrome (AD). Associated with increase in paternal age
Name the syndrome.White forelock, telecanthus, heterchromia iridis, fundus hypopigmentation and sensorineural hearing loss
Waardenburg's syndrome (AD)
What is the difference between telecanthus and hypertelorism?
Telecanthus: Increased inner canthal distance(ICD) and puncta and normal IPD, smaller palpebral fissure length (PFL)Hypertelorism: Increased IPD, ICD and normal PFL
Name the syndrome:RD, cataracts and or glaucoma, high myopia. micrognathia, glossoptosis. Close association with Stickler's syndrome
Pierre Robin sequence
Define the following terms:AblepharonAnkyloblepharonEuryblepharonBlepharophimosis
Ablepharon: Absence of eyelidsAnkyloblepharon: Partial or complete fusion of lid marginsEuryblepharon: Horizontal shortening of palpebral fissure due to inferior insertion of lateral canthal tendonBlepharophimosis: Horizontally and vertically shortened palpebral fissures with poor levator function
What is the triad of blepharophimosis?
Ptosis, Telecanthus, Epicanthus inversus
Name few causes of Ankyloblepharon?
SJS, OCP, thermal or chemical burns or inflammation
What is the triad of Horner's syndrome?
Ptosis, miosis and anhydrosis
What is the most common cause of congenital eCtropion?
Vertical shortening of Anterior lamella
What is the most common cause of congenital eNtropion?
Vertical shoterning of posterior lamella, tarsal plate defects, lid retractor dysgenesis
What is Distichiasis?
Partial or complete accessory row of eyelashes growing from posterior to meibomian orifices
Define the following terms:Epicanthus tarsalisEpicanthus inversusEpicanthus PalpebralisEpicanthus supraciliaris
Epicanthus tarsalis: Prominent fold in upper eyelidEpicanthus inversus: Prominent fold in LLEpicanthus Palpebralis: Fold equally distributed in UL & LLEpicanthus supraciliaris: Fold arises from eyebrow and extends to lacrimal sac
What is the diagnosis? Bluish swelling inferior and nasal to medial canthus present at birth
Dacryocystocele. Usually due to amniotic fluid or mucus
What are the most common organisms that cause dacryocystitis?
S. Pneumo, S.aureus, H.flu, Klebsiella, pseudomonas
Which valve was being covered by membrane in NLD?
Valve of Hasner
What are the treatment options for NLD in children?
Crigler's massage, probing and irrigation by age 13 months (95% cure rate), Silicone intubation if probing is unsuccessful, DCR after multiple failures
What is ocular melanocytosis?
Unilateral excessive pigment in uvea, sclera and episclera.
What is Nevus of Ota?
Ocular melanocytosis associated with pigmentation of eyelid skin
Define ophthalmia neonatorum?
Conjunctivitis within first month of life. Papillary conjunctivitis with no follicular reaction in neonate due to immaturity if immune system.
Name the types of ophthalmia neonatorum?
Chemical: first 24 hours due to silver nitrateN. Gonorrhea: 1-2 days. can occur with PROMChlamydia: 2-4 daysHSV: 5-14 days
What are the findings of N. Gonorrhea conjunctivitis?
Severe purulent d/c, chemosis, eyelid edema, hemorrhagic, may develop corneal ulceration or perforation.
What is the treatment for N. Gonorrhea conjunctivitis?
IV ceftriaxone and topical bacitracin. Treat for possible Chlamydia conjunctivitis.
What is the treatment for chlamydial conjunctivitis?
Topical and PO erythromycin (syrup) to prevent pneumonitis, treat mother and sexual partners with doxycycline
What are the signs of neonatal conjunctivitis? (Chlamydia)
Acute mucopurulent d/c, papillary rxn, pseudomembranes. Associated with pneumonitis, otitis, nasopharyngitis, gastritis
What is the most common cause of pediatric conjunctivitis compared to adults?
Bacterial (50-80%) in childrenViral in adults
What are the demographics of vernal keratoconjunctivitis?
Seasonal (spring) allergic conjunctivitis. M>F, onset by age 10 and resolves by puberty.
What factors are associated with VK?
Atopic dermatitis (85%), fam hx of atopy (66%)
What are the findings of VK?
Horner-trantus dots, shield ulcers, limbal follicles, copious ropy mucus, pseudomembrane, keratitis, micropannus,
What are Horner-trantas dots?
Elevated white accumulations of eosinophils at limbus
Name the diagnosis?Bilateral, thick pseudomembranous (woody appearance) conjunctivitis in children, common among young girls
Ligneous conjunctivitis
What is the pathology of VK?
High levels of histamine and IgE in tears, mast cells, eosinophils, basophils
What is the pathology of ligneous?
Acelluar eosinophilic hyaline material, IgG, T-cells, mast cells and eosinophils
What is the most common descent affected by Kawasaki?
Japanese descent
What is the diagnostic criteria for Kawasaki disease?
Need 5 of 6:Fever, bilateral conjunctivitis (90%), strawberry tongue, b/l nongranulomatous uveitis(80%), rash, cervical LAD, lesions of extremties (edema, erythema, desquamation)
What is the treatment for Kawasaki dz?
Aspirin.
What is the life threatening feature of Kawasaki disease?
Coronary artery aneurysm or MI
What diseases are associated with anterior megalophthalmos?
Marfan's, mucolipidosis type II, Apert's syndrome
What is congenital corneal staphyloma?
Protuberant corneal opacity due to intrauterine keratitis
What diseases are associated with cornea plana?
Scleroplana, microcornea and angle closure glacoma
Define megalocornea?
Horz diameter of cornea > 12 mm in newborns and > 13 mm in adults
What diseases are associated with megalocornea?
Marfan's, Alport's, Down, dwarfism, craniosynostosis and facial hemiatrophy
What are the complications of megalocornea?
Ectopia lentis, glaucoma, cataract-PSC
What are the findings of megalocornea?
large cornea, zonular dehiscence, phacodenesis, hypoplastic iris, ectopic pupil
What are the characteristics of megalocornea?
X-linked, b/l, 90% males, some AR, non progressive
Define microcornea?
Corneal diameter < 9 mm in newborns and < 10 mm in adults. AD or sporadic
What diseases are associated with microcornea?
Dwarfism, Ehlers-Danlos sx
What are the findings of microcornea?
small cornea, hyperopia, PHPV, microphakia, ACG or POAG
Define posterior keratoconus?
Discrete posterior corneal indentation with stromal haze and thinning
What are the characteristics of posterior keratoconus?
F>M, non progressive, usually central and unilateral, anterior corneal surface is normal, causes irregular astigmatism, VA is good.
What are the characteristics of anterior segment dysgenesis?
B/l, congenital, hereditary d/o affecting anterior segment structures
What are the findings of Axenfeld's anomaly?
Posterior embryotoxon, anteriorly displaced Schwalbe's line, 50% develop glaucoma, AD.
What are the findings of Alagille's syndrome?
Axenfeld's plus pigmentary retinopathy, corectopia, esotropia, biliary hypoplasia. ERG and EOG are abnl
What are the findings of Rieger's anomaly?
Axenfeld's plus iris hypoplasia with holes, glaucoma
What are the findings of Rieger's syndrome?
Reiger's anomaly plus MR and systemic abnl
What are the findings of Peter's anomaly?
Central corneal leukoma, iris adhesions, phacodenesis, 50% develop glaucoma. Usually sparadic, b/l (80%), AR or AD
What is the mnemonic for anterior segment dysgenesis?
STUMPED. (Sclerocornea, trauma, ulcer, metabolic dz, Peter's, Edema(CHED), Dermoids
What are the ocular findings of syphilis?
Interstitial keratitis, ectopia lentis, Argyll Roberson pupil, optic atrophy, salt and pepper retinopathy
What is Hutchinson's triad?
Interstitial keratitis, hutchinson's teeth and deafness
What is the most common location of coloboma?
Inferonasal
What ocular conditions are associated with Corectopia?
Ectopia lentis et pupillae, Axenfeld's Reiger syndrome, ICE, uveitis or trauma
What ocular conditions are associated with Dyscoria?
Posterior synechiae, Axenfeld Reiger syndrome, ectopia lentis et pupillae
What forms the persistent pupillary membrane?
Remnants of anterior tunica vasculosa lentisType I: iris to iris bridgeType II: iris to lens, may have associated anterior polar cataract
What are Brushfield's spots? Where are they usually seen?
Focal areas of iris stromal hyperplasia surrounded by relative hypoplasia. 85% in down syndrome.
What are lisch nodules and which disease are they associated with?
Neural crest hamartomas, associated with NF 1
Name the disease with the following pathology? Diffuse non necrotizing proliferation of histiocytes with scattered touton giant cells
Juvenile xanthogranuloma (JXG)
What is mittendorf's dot?
Small white opacity on posterior lens capsule. Remnant of the posterior tunica vasculosa lentis
What is microphakia associated with?
Lowe's syndrome
What diseases are associated with microspherophakia?
Weil-Marchesani, Lowe's, and Alport's syndromes, congenital rubella, Peter's.
What is the treatment for microspherophakia?
Cyclopegia (to tighten zonules, flatten lens and pull it posteriorly)
What diseases are associated with bilateral congenital cataracts?
Usually AD, DM, galactosemia, Lowe's.
What are the complications of congenital cataracts?
Irreversible nystagmus. Need treatment by age 3 months
What causes unilateral cataracts?
PHPV, anterior polar or posterior lenticonus. Requires treatment by 6-8 weeks of life.
What are sutural cataracts?
AR, bilateral opacities of Y sutures. Occurs during development of fetal lens nucleus.
What are crystalline cataracts?
B/l, refractile rhomboid crystals (containing tyrosine and cysteine) radiating outward from the center of the lens into the juvenile nucleus
What are coronary cataracts? what are they associated with?
Small punctate bluish opacities, wreath like cortical opacities encircling the nucleus in radial fashion. Associated with down syndrome
What is the etiology of bilateral cataracts?
30% Hereditary, 30% systemic syndromes, 30% idiopathic
What is the genetic predisposition of bilateral cataracts?
AD, AR X-linked
What chromosomal abnormalities are associated with congenital cataracts?
TRisomy 13 (Patau sx), Trisomy 18, Trisomy 21 (Downs), Turner's syndrome, Cri-du-chat sx
Name the enzyme deficiency that leads to galactosemia?
Galactose-1-P-uridyl transferase (most common)GalactokinaseUridine diphosphate (UDP) galactose-4-epimerase
What is the triad of Alport's syndrome?
Anterior lenticonus, deafness, hemorrhagic nephropathy /renal failure. (XR)
Name the etiology depending on the type of cataracts:1. Oil droplet cataract2. Cornea verticillata w/spoke like cataracts3. Punctate iridescent opacities in anterior and posterior cortex4. Snow flake or coronary cataracts5. Posterior spoke like opacity cataracts6. Pearly white nuclear opacities
1. Galactosemia2. Fabry's disease3. Hypocalcemia4. Down syndrome5. Hurler's6. Rubella cataracts
What is the etiology of unilateral cataracts?
1. Idiopathic (80%)2. Ocular abnormalities (10%): Posterior lenticonus, PHPV, tumors as (RB, medulloepithelioma), anterior segment dysgenesis3. Trauma (10%)4. Intrauterine infections: Rubella
What is the ddx for leukocoria?
Cataract, RB, Toxoplasmosis, toxocariasis, RD, ROP, PHPV, Coats, coloboma, Norrie's, myelinated nerve fibers, retinal dysplasia, retinoschisis, medulloepithelioma
What is the ddx of congenital cataracts and glaucoma?
Lowe's, Hallermann-Streiff syndrome and rubella
Which trimester is critical for rubella infection for worse prognosis?
Maternal infection in the 1st trimester
What are the findings of neonate from maternal rubella infection?
B/l cataracts (white pearly nuclear opacities with retention virus in the lens nuclei which can disseminate into persistent AC inflammation following cataract sx), salt and pepper fundus, (+/- glaucoma), microphthalmos, necrotizing iridocyclitis and corneal clouding.Other systemic findings: PDA, deafness, and MR
Define congenital, infantile and juvenile glaucoma?
Congenital: < 3 months of age Infantile: 3 months to 3 years of ageJuvenile: 3 years to 35 years of age
What is the triad of congenital glaucoma?
Epiphora, photophobia, and blepharospasm
What are the findings of congenital glaucoma?
IOP > 21, C/D >0.3, (cupping is reversible), buphthalmos (corneal diameter>13 mm, Haab's striae (circumferential or horizontal DM), corneal edema, scarring, astigmatism and myopia
What are the causes of oblique or vertical striae?
trauma or forceps delivery
Name the syndromes associated with congenital glaucoma?
Lowe's, Sturge-weber (50% if nevus flammeus involves upper eyelid), NF (25% if plexiform neurofibroma involves UL), congenital rubella, marfan's, weil-marchesani, stickler's, Hurler's and hunter
What is the best time to measure IOP in a patient under anesthesia?
As soon as anesthesia was administered
Name the anesthetic agetns that raise the IOP?
Ketamine and succynylcholine
What are the treatment options for congenital glaucoma?
Medical therapy is a temporizing measure. Surgery is definitive treatment. Age< 18 months, goniotomyAge> 18 months, trabeculectomyIF either of them fails escalate the therapy to trabeculectomy with mitomycin C
What is the most common cause of anterior uveitis in children?
RF-, ANA+, pauciarticular (<5 joints) arthritis in girls < 16 years of age
What is the ddx of posterior uveitis?
Toxoplasmosis, toxocariasis, POHS, HSV, syphilis, SO, masquerade sx (RB,JXG, leukemia, lymphoma, melanoma, IOFB, RRD, RP, MS)
What is the most common infectious cause of posterior uveitis?
Toxoplasmosis (98% congenital)Tachyzoite form is responsible for inflammation
What are the findings of congenital toxo from first trimester infection?
neonatal convulsions, intracerebral calcifications, retinitis
What are the findings of congenital toxo from second trimester infection?
Retinitis
What are the ocular findings with congenital toxo?
INACTIVE chorioretinal scar in posterior pole, often in macula, ACTIVE white fluffy lesion (headlight in fog) adjacent to the scar.
What is the treatment regimen for toxoplasmosis?
4 drug regimen:Abx: Clindamycin SulfadiazinePyrimethamine with folinic acidOR bactrim. Steroids after 2-4 days of starting abx. (NEVER be given w/o abx)
What causes ocular toxocariasis?
Secondary infection from larval form of dog roundworm, toxocara canis. Acquired by ingestion of soil.
How to diagnosis toxocariasis?
AC tap for eosinophils, ELISA and stool for ova/parasites
What is the treatment modality for toxocariasis?
Topical steroids, cyclopegia for uveitis, PPV and surgical repair of RD
What is the cause of PHPV or PFV?
Due to incomplete regression of tunica vasculosa lentis and primary vitreous
Name the ocular abnormality?Microphthalmia, retrolental plaque, elongated ciliary processes, shallow AC, NVI, cataract, angle closure glaucoma, VH or RD
Persistent fetal vasculature PFV
Name the enzyme deficiencies?Taysach'sSandhoff'sGM1 gnagliosidosesHurler'sHunter'sFabry'sMetachromic leukodystrophyKrabbe's diseaseGaucher's diseaseNiemann pick diseaseCystinosisGlaactosemiaRefsum'sAdreno leukodystrophyHomocystinuria
Taysach's - Hexosaminidase A - ARSandhoff's - Hexosaminidase B- ARGM1 gangliosidoses - (b-galactosidase A,B and C) - ARHurler's - (a-iduronidase)- ARHunter's- Iduronate sulfatase - XRFabry's - (a-galactosidase) - XRMetachromic leukodystrophy - Arylsulfatase (AR)Krabbe's disease - Galactocerebrosidase (AR)Gaucher's disease - (b-galactosidase) - ARNiemann pick disease - Sphingomyelinase - ARCystinosis - Defective transport of cysteine - ARGlaactosemia - (Gal-1-UDP transferase) - ARRefsum's - Phytanic acid oxidase- (AR)Adreno leukodystrophy - Peroxismal d/o (XR, AR)Homocystinuria - Cystathionine synthase - AR
What are the risk factors for ROP?
Low birth weight (< 1.5 Kg), prematurity and coexisting illness
By what gestational age retina finishes vascularization?
36 weeks for nasal retina and 40 weeks for temporal retina
What is the zone classification of ROP?
Zone 1: centered on ON with radius of (2 x the distance from ON to fovea)Zone 2: centered on ON with radius of (4x the distance from ON to fovea)Zone 3: Centered on ON to the aura temporally with the remaining crescent anterior to zone 2
What are the stages of ROP?
Stage 1: Demarcation lie between vascular and avascular retinaStage 2: Elevated ridgeStage 3: Ridge with tufts of extraretinal blood vessels (popcorn)Stage 4: subtotal RD (Extrafoveal-4A, Foveal-4B)Stage 5: Total RD with funnel
What are the risk factors for ROP?
Low birth weight (< 1.5 Kg), prematurity (<30 weeks of gestation) and coexisting illness
What are the indications for laser to peripheral retina in ROP?
Any zone with plus diseaseZone 1, Stage 3 regardless of plus disease
What are the conclusions from ETROP study?
Early laser therapy for any zone with plus diseaseZone 1, Stage 3 regardless of plus disease
What are the conclusions from Cryo-ROP study?
Cryo therapy preserves VA in eyes with threshold disease. Entire avascular retina in zone 2 w/o ridge
Define plus disease in ROP?
Engorged tortuous vessels around the disc, vitreous haze, iris vascular congestion, progressive vascular incompetence- poor prognostic sign
What are the conclusions from ETROP study?
Any zone with plus diseaseZone 1, Stage 3 regardless of plus disease
What are the conclusions from Cryo-ROP study?
PRP to the entire avascular retina in zone 2 w/o ridge
What are the conclusions of BEAT-ROP study?
Avastin of 0.025 ml in zone 1, stage 3 disease
What is the genetic predisposition of FEVR?
AD, AR(most severe form), x-linked
What are the stages of FEVR?
Stage 1: Avascular periphery Stage 2: NV (2A: w/o exudates, 2B: w/ exudates)Stage 3: Extramacular RD (3A: w/o exudates, 3B: w/ exudates)Stage 4: Macular involving RD (4A: w/o exudates, 4B: w/ exudates)Stage 5: TRD
What are the findings of Leber's miliary aneurysms?
Also called Coats disease.Leucokoria, strabismus, telengiectatic blood vessels, non calcified yellow lesions, exudative RD, MAs, capillary non perfusion in the periphery
Name the disease from the below FA findings?FA: blood fluid levels, saccular aneurysms (light bulb aneurysms) of retinal arterioles and venules.
Coats disease
What is the treatment for Coats disease?
Cryo or Laser to stop the leaking blood vessels
Name the disease?XL recessive, b/l leukocoria, retinal dysplasia, peripheral NV, hemorrhagic RD and retinal necrosis, deafness and MR
Norrie disease
What is the most common hereditary macular dystrophy?
StargardtSecond most common: BEST disease
What is the genetic makeup of Stargardt?
Chr 1, ABCA4, AR, less commonly AD
What are the most common fundus findings of Stargardts?
B/l pisciform lesions, yellow-white flecks, bulls eye maculopathy, beaten metal appearance fundus, salt and pepper pigmentary changes
What is the pathognomonic sign of stargardt on FA?
Silent choroid (due to accumulation of lipofuscin in RPE)
What is the genetic make up of Best disease?
Chr 11, VMD (BEST 1) encodes bestrophin 1 located in basolateral aspect of RPE
What are the stages of BEST or vitelliform disease?
S1: Previtelliform: Submacular yellow dotS2: Vitelliform stage: Yellow-orange egg yolk appearanceS3: Pseudohypopyon stage: Layering of lipofusin, RPE atrophyS4: Scrambled egg: irregular subretinal spotsS5: Round chorioretinal atrophy: atrophic scarS6: CNV stage
What is the age of onset of Stargardt and Best diseases?
Stargardt: Progression with onset in the first 2 decadesBest: Progression with onset in the first decade
Name the disease.Disease onset in first decade with drusen progressing to chorioretinal atrophy with staphyloma of macula. Progression to CNV eventually
North Carolina macular dystrophy
What are the associations of RP?
Keratoconus, CME, Coats disease, optic disc drusen, myopia
What is the triad of RP?
Waxy pallor to the ON, bone spicules, vascular attenuation
What is the ddx of nyctalopia?
Uncorrected myopia, Vitamin A deficiency, Zinc def, choroideremia, PRP, CSNB, gyrate atrophy and Goldman-Favre disease
What is the pathology of "bone spicules"?
RPE cells invade retina and surround retinal vessels
Name the syndrome?Kidney failure, anterior lenticonus with anterior polar cataract, deafness.
Alport's syndrome
Name the phenomenon?Golden-brown fundus (yellow/green sheen) in light adapted state, normal colored fundus in dark adapted state
Mizou-Nakamura phenomenon
What are the ERG findings of Oguchi's disease?
Absent B-wave, only scotopic a-waveOguchi's is mapped to chr 2
Name the disease?Onset during late childhood with nyctalopia, photophobia, constricted VF in affected males
Choroideremia (XL-recessive). Mutation in CHM gene that encodes for Geranylgeranyl transferase Rab escort protein
Name the disease with deficiency of Ornithine aminotransferase and elevated ornithine levels and low lysine levels?
Gyrate atrophy (mapped to chr 10), AR disease with mutation in gene OAT.
What are the fundus findings of Gyrate atrophy?
Scalloped areas of absent choriocapillaries with abrupt transition between normal and atrophic RPE. Myopia (90%), cataracts, vitreous degeneration and CME
What is the treatment for gyrate atrophy?
Restrict Arginine, supplement Vitamin B6 (Pyridoxine).
What is sectoral RP? What is the most common quadrant affected?
B/l RP retinal changes limited to 1 or 2 quadrants with most commonly involved inferonasal quadrant. Abnl ERG, VF but good prognosis
What is tapetoretinal degeneration?
Process that involves the outer half of the retina (photoreceptor/RPE). RPE = tapeum nigran (black carpet)
What are Leber Congenital Amaurosis ?
Early onset retinal dystrophies are collectively termed as LCA
Name the disease?Reduced vision from birth, nystagmus, round, black pigmented flecks in the fundus, oculodigital reflex. possible cataracts and keratoconus
LCA
What is oculodigital reflex?
The tendency to rub or poke into the eyes. Usually seen in LCA diseases
What is the LCA mutation that has been treated with gene therapy?
RPE65. Treated with gene therapy by using AAV
What is the ddx of Bull's-Eye maculopathy?
Stargardt dz, cone and cone-rod dystrophies, Hydroxychloroquine or chleorquine, ARMD, chronic macular hole, central areolar choroidal atrophy, Olivopontocerebellar atrophy, ceroid lipofuscinosis
Name the disease:Nyctalopia, increased sensitivity to blue light, deep nummular pigment deposition in retina, optically empty vitreous. Related to Goldmann-Favre syndrome.
Enhanced S-cone syndrome.
What is the genetic make up of Enhanced S-cone syndrome?
AR, mutations in NR2E3
Name the syndrome:RP with DEAFNESS, ataxia, MR, rickets
Usher syndrome
Name the syndrome:RP with DEAFNESS, ANOSMIA, ataxia, ichthyosis, cardiac adnormalities
Refsum's disease
What is the genetic makeup of Refsum's disease?
Deficiency of Phytanic acid oxidase, AR
What other ocular syndromes are associated with hearing loss?
Cogan's (IK + hearing loss)Sticklers (optically empty vitreous+ hearing loss)Waardenburg-Klein (iris heterochromia+white forelock+hearing loss)Duane's (15% has hearing loss)
What is the difference in treatment in stargardt Vs RP?
Stargardt: Limit or avoid Vitamin ARP: Supplement Vitamin A
Name the syndrome: Pigmentary retinopathy with flat ERG, polydactly, MR, short stature, obesity
Bardet-Biedl syndrome
Name the disease:Ptosis, ophthalmoplegia, strabismus, retinal degeneration, cardiac conduction defects, only males are affected
CPEO, mitochondrial inheritance, 50% +Fam Hx,
Name the gene involved in Juvenile retinoschisis?
X-linked recessive, (XLRS1-retinoschisin)
Characteristics: Males, bilateral, present at birth, progresses rapidlytill age 5 and stable by age 20.
Cleavage at NFL (usually inferotemporal location)
What type of scotoma is noted with retinoschisis?
Absolute scotoma
Name the syndrome?
Optically empty vitreous, Lattice, RD, optic atrophy, high degree of myopia
Stickler's syndrome
Genes involved: COL11A1, COL11A2, COL2A1
Name the syndrome with charateristics similar to stickler's but short stature, stubby hands and feet with ectopia lentis?
Weill-Marchesani syndrome
What is the name of the lethal condition with Albinism and severe clotting disorder?
Hermansky-Pudlak syndrome.
Commonly seen in Peurto-ricans
What is the name of the lethal condition with Albinism and recurrent infections, pancytopenia and malignancies?
Chediak-Higashi syndrome
What are the 3 types of cones in the retina?
L- long wavelength- Red
M- Medium wavelngth-Green
S-short wavelength-Blue
What are the typical abnormal colors in CONGENITAL dyschromatopsia?
What are the typical abnormal colors in ACQUIRED dyschromatopsia?
Red-green
Blue-yellow
What is the pathology of CHRPE?
Densely packed melanocytes with larger melanosomes leading to increased thickness of RPE. RPE atrophy at places lead to lacunae with choroidal show
What systemic disease is CHRPE ("bear tracks") associated with?
FAP- AD-mapped to chr 5
Gardner's syndrome (variant of FAP) -colonic polyps
Order colonoscopy
What is the ddx of CHRPE?
Choroidal nevus or melanoma
Metastases
Reactive hyperplasia of RPE
BDUMP
Adenoma of retina
Combined hamartoma
Massive gliosis of retina
What is the most common INTRAOCULAR malignancy in children?
RB
90% dx by 5 years of age. M=F, mapped to chr 13
94% sporadic, 6% AD
Bilateral cases are familial
What is the chance of having a child with RB in the following conditions?
+ fam Hx:
- Parents with 1 affected child
- Affected parent
- Fam Hx:
- Parents with 1 affected child
+ fam Hx:
- Parents with 1 affected child - 40%
- Affected parent-40%
- Fam Hx:
- Parents with 1 affected child-6%
What are the complications of endophytic RB?
Arises from inner retina and grows into the vitreous, simulate endophthalmitis with pseudohypopyon
What are the complications of exophytic RB?
Arises from outer retina and grows toward choroid causing RD, extend through sclera, and simulate Coats disease or truamatic RD
What are the poor prognostic signs of RB?
Bilateral tumor DOES NOT worsen the prognosis. It is the status of the tumor in the worse eye.
ON invasion, extrascleral extension, vitreous seeding, uveal invasion.
What is trilateral retinoblastoma?
- Bilateral RB with pineolablastoma or parasellar neuroblastoma.
- Occurs in 3% of children in unilateral RB
- 8% of children in bilateral RB
What histologic markers help with tumor differentiation in RB?
- Homer-Wright Rosettes
- Flexner-Wintersteiner rosette
- Fleurettes
- Pseudorosettes
What are the diagnostic tools of RB?
- Blood: Elevated LDH
- US: Acoustic solidity with high internal reflectivity
- FA: early hyperflourescence with late leakage
- MRI: ON involvement and pineal tumor
- CT: calcifications(less preferred due to radiation)
- Metastatic w/u: bone scan, LP, bone marrow bx
Name the chromosomes involved in the following phacomatoses?
- NF 1
- NF2
- VHL
- TS
- Ataxia-Telengiectasia
- Sturge-Weber
- Wyburn-Mason
- NF 1 -17 - AD
- NF2 - 22 - AD
- VHL - 3 - AD
- TS - 9 - AD
- Ataxia-Telengiectasia - 11 - AR
- Sturge-Weber - None - sporadic
- Wyburn-Mason - none - sporadic
What is the criteria for dx of NF1?
- 6 or more cafe-au-lait spots
- 2 or more neurofibromas
- or 1 plexiform neurofibroma
- Freckling of intertriginous areas
- Optic nerve glioma
- 2 or more Lisch nodules
- First degree relative with NF1
What are the criteria for dx of NF2?
- B/l cerebellar-pontine angle tumors (acoustic neuromas, hearing loss, ataxia, HA)
- First degree relative with NF2
- Fam hx of either unilateral acoustic neuroma or 2 of the following meningioma, schwannoma, neurofibroma, glioma, PSC
- May have pheochromocytoma
- NO lisch nodules
What is the mechansim of glaucoma in sturge-weber syndrome?
NV, increased episcelral venous pressure, and immature angle structures
What is the triad of Tubersous sclerosis?
Adenoma sebaceum, MR, seizures (epilepsy)
What are the ocular findings of tuberous sclerosis?
- Astrocytic hamartoma of the retina (flat or mulberry shaped in the posterior pole)
- astrocytic hamartoma of the optic nerve
What are the ocular findings of Ataxia-telengiectasia?
Prominent conjunctival vessels, impaired convergence, nystagmus and oculomotor apraxia
What are the ocular findings of incontinentia pigmenti?
X-linked dominant (only in females, lethal in males0
Proliferative retinal vasculopathy (resembles ROP), may have RD and retrolental membrane
What are the ocular findings of optic nerve hypopliasia and complications?
- Double ring sign, +RAPD
- strabismus, nystagus, amblyopia, , VF defects
What are the ocular findings of De-Morsier's syndrome?
- B/l ON hypoplasia
- Septum pellucidum abnormality
- Pituitary and hypothalmus deficiency
- Agenesis of corpus callosum
- May have chaismal abnormalities with VF defects
What is the most important work up in De-Morsier syndrome?
Endocrine consult
What is the most common location for optic pit?
Inferotemporal area
What is the most common complication of optic pit?
Serous RD extending from the pit
What are the associations of optic disc drusen?
- Angioid streaks
- RP
- Alagille's syndrome
What is the pathology of optic disc drusen?
Clacified hyaline bodies
Stain + for Ca2+, aminoacids, hemosiderin and mucopolysaccharides
Stain NEG for amyloids
What is the most common mutation in Leber's hereditary optic neuropathy (LHON)?
Mitochondrial mutationin motochondrial gene NADH.
Most common 11778
Greatest penetrance 3460
Best prognosis 14484
M:F 9:1,
What is the age of onset of LHON?
15 and 30 with subacute sequential bilateral vision loss (=20/200).
Triggered by tobacco or alcohol
What are the most commonly seen mitochondrial diseases?
Maternal inherited diabetes and deafness (MIDD)
LHON
Kearns-sayre syndrome
What are the ocular findings of mitochondrial diseases?
CPEO, ptosis, pigmentary retinopathy, retrochiasmal vision loss, optic atrophy
What is the pathology of mitochondrial diseases?
"ragged red" fibers on muscle bx
What is the origin of insertion of oblique muscles? rectus muscles and levator papebrae?
- All rectus muscles: Annulus of zinn
- SO and LP: Orbital apex above the annulus of zinn
- IO: periosteum of maxillary bone
Damage to which muscle during strabismus surgery results in mydriasis?
Inferior oblique.
Inferior division of CN III upto the IO carries parasympathetic supply to iris constrictor
Describe the course of visual development in children?
- At birth: blinking response to light
- 7 days: vestibulo-ocular response
- 2 months: Fixation well developed
- 6 months: VER acuity at adult level
- 2 years: snellen at adult level
- 7 years: stereoacuity at adult level
What is the purpose of worth 4 dot test?
To determine bonicularity and to determine the size and location of suppression scotoma in strabismus patients.
What is the purpose of 4D baseout prism test?
To detect small suppression scotomas
Define amblyopia?
Unilateral or bilateral reduction in VA that cannot be attributed to any structural abnormality of the eye or visual system.
What are the types of amblyopia?
Strabismic
Refractive
Deprivational amblyopia
How much of refractive error cause refractive amblyopia?
Ametropia:
- 5D of hyperopia
- -8D of myopia
- 2.5D of astigmatism
Anisometropia:
- 1D of Hyperopia
- -3D of myopia
- 1.5D of astigmatism
What is the Hering's law?
Equal and simultaneous innervation to synergistics muscles
What is primary deviation in paralytic strabimus?
What is secondary deviation in paralytic strabimus?
Deviation measured with normal fixating eye
Deviation measured with paretic eye fixation. It is always larger than primary deviation.
What is Sherrington's law?
law of SAME eye muscles. Innervation to the ipsilateral antagonist decreases while innervation to the agonist inreases.
Eg: lateral rectus and medial rectus in the same eye
What is Hering's law?
Law of BOTH eyes: Equal and simultaneous innervation to synergistic muscles.
Define optical axis and visual axis?
Optical axis: A line drawn through the center of cornea, lens and fovea
Visual axis: A line drawn through the fixating point and fovea
Pupillary axis: A line drawn through the center of the pupil to the fovea
Define angle alpha?
Define angle Kappa?
Angle between visual axis and optical axis. Important in pseudophakic IOL centration.
Angle between visual axis and pupillary axis. Important in corneal refractive procedures.
What are the characteristics of positive angle kappa and negative angle kappa?
Positive angle kappa:
- Temporal postion of fovea
- Light reflex appears nasal
- pseudoXT or mask ET
Negative angle kappa:
- Nasal postion of fovea
- Light reflex appears temporal
- pseudoET or mask XT
What tests are used for DETECTION of deviations?
What tests are used for MEASURMENT of deviations?
Detection:
- Corneal light reflexes
- Monocular cover-uncover tests
Measurements:
- Modified Krimsky's
- Hirschberg's
- Simultaneous prism cover-uncover tests
- Alternate cover testing
What does double maddox rod measures?
Torsions
What are the 3 steps in Parks-Beilchowsky three step?
1. Which eye has hyperdeviation
2. Is hyperdeviation greater in right or left gaze?
3. Is hyperdeviation worse with right or left head tilt?
What are the characteristics of congenital nystagmus?
- Horizontal and long-standing
- Null point is present
- Dampened by convergence
- Absent while sleeping
- OKN reversal in 60%
- No oscillopsia
- May develop a head posture
What diseases are associated with congenital nystagmus?
Albinism, aniridia, LCA, ON hypoplasia, congenital cataracts, achromatopsia
How to distinguish latent vs congenital nystagmus?
Latent nystagmus:
- worsens towards the viewing eye with covering one eye
- slow phase velocity decreases
Congenital nystagmus:
- Reversal of OKN drum
- dampens with convergence
- slow-phase velocity worsens
What are the characteristics of latent nystagmus?
- Jerk nystagmus towards the viewing eye on monocular viewing
- Normal OKN reponse
- Decreasing slow phase velocity exponentially
- Associated with infantile esotropia and DVD
- Normal VA when both eyes are open
What is Alexander's rule of nystagmus?
Nystagmus intensity increases when looking toward fast phase and decreases when looking toward slow phase (ie, ADduction nulls, therefore no head posture)
What is sensory nystagmus? What diseases are associated with sensory nystagmus?
A form of pendular nystagmus due to vision loss, more common than congenital nystagmus
Associated diseases:
- Aniridia, albinism, CSNB, ON coloboma, ON hypoplasia, cataracts, LCA, b/l macular coloboma
What is the triad of spasmus nutans?
- Simmering nystagmus
- Head bobbing
- Torticolis
What needs to be ruled out with spasmus nutans?
Chiasmal glioma.
Spasmus nutans usual onset is during the first year of life with spontaneous resolution by age 3 years
What are the characteristics of congenital esotropia?
- M=F, present by 6 months of age
- +fam hx of strabismus
- Associated with cerebral palsy or hydrocephalus
- deviation >/= 30PD
Treatment:
- Treat amblyopia first
- Early sx: bilateral MR recession, or unilateral LR resection and MR recession
Define convergence and divergence insufficiency?
Convergence insufficiency: XT greater at near than distance
Diveregence insufficiency: ET greater at distance than near
How to distinguish congenital superior oblique palsy from acquired SO palsy?
Congenital:
- Due to long or floppy or absent SO tendon
- Fuse large amplitudes (15PD or more)
- Head tilt
- Facial asymmetry
Acquired:
- Due to trauma
What muscle is involved in Brown's syndrome? and what causes Brown's?
SO tendon sheath syndrome. Inability to ELEVATE in ADDuction.
Congenital or acquired
Causes: Trauma, inflammation, iatrogenic (following SO tuck, glaucoma drainage implant, scleral buckle)
What measurement is clinically significant in A pattern stabismus?
>10 PD of divergence from upgaze to downgaze
What measurement is clinically significant in V pattern stabismus?
>15PD of covergence from upgaze to downgaze
What is the mnemonic for A and V pattern strabismus?
MALE (Medial rectus to the Apex and Lateral rectus to the Empty space
What are the findings of Duane's retraction syndrome?
- Cocontraction of MR and LR muscles causing retraction of the globe with secondary narrowing of palpebral fissure
- Vertical deviations with charactersitics of upshoot and downshoot
- Head turn is common
What is the etiology of Duane's syndrome?
Abnormal innervation of LR by a branch of CN III.
Possible mechanisms:
- Hypoplasia of CN6 nucleus
- Fibrosis of LR
- Midbrain pathology
What are the types of Duanes?
Type 1:
- Limitation of abDuction, retraction of globe, narrowing of palpebral fissure
Type 2:
- Limitation of ADDuction, appears exotropic
Type 3:
- Limitation of abDuction and aDDuction
What are the treatment modalities for Duane's?
Treat for amblyopia and refrative error first, then surgery
Indications for sx:
- abnormal head position or
- deviation in primary gaze
For globe retraction: simultaneous LR recession
For upshoot or downshoot: splitting of LR or Faden procedure
AVOID muscle resection: worsens globe retraction and upshoot and downshoots
What cranial nerves are involved in Mobius syndrome?
CN 6 and 7 palsies. Due to aplasia of involved brain sem nuclei.
What are the ocular findings of Mobius syndrome?
Esotropia with limitation of ABduction (CN 6 palsy). Exposure keratitis with poor lid closure (Cn 7 palsy)
What causes anterior segment ischemia, what are the findings and how to treat?
Cause: Sx on 3 or more eye muscles.
Findings: Anterior uveitis and corneal edema
Treat with topical steroids
What is oculocardiac reflex?
Bradycardia with traction of EOMs, especially MR
What medicine causes malignant hyperthermia?
Succinylcholine and inhalation agents
What are the signs of malignant hyperthermia?
Tachycardia, unstable BP, arrhythmias, increased temp, muscle rigidity, cyanosis and dark urine
What is the purpose of red-glass test?
To check for anomalous retinal correspondence (ARC) and to avoid post-operative diplopia surprises
How to perform and interpret red-glass test?
1. Measure patient's deviation with a prism
2. Place the red-glass on non deviating eye and ask the patient to focus on the white light
Interpretation:
- If they see "1 light" - Suppression
- If they see "pink" - harmonious ARC
- If they see "2 lights":- Unharmonious ARC
