post seg

Question 1

– Inherited genetic mutations (usually bilateral, some has systemic manifestations)
– Chromosomal abnormalities and syndromes (Down’s syndrome)
– Intrauterine infections (Rubella, Chickenpox, CMV, Toxoplasmosis)
– Persistent hyperplastic primary vitreous (PHPV)
– Metabolic disorders (Wilson’s)
– Unknown in some cases (especially unilateral)

Answer 1

cataract

Question 2

Most common intraocular malignancy of childhood

Usually

Answer 2

retinoblastoma

Question 3

Management:
– Treatment: very complex, depends on
number, size and location • Irradiation
• Cryotherapy
• Laser photocoagulation
• Chemotherapy
• Enucleation: advanced cases
– Genetic counseling
– All family members should have a
complete eye exam
Prognosis: Often fatal if tumor spreads beyond the eye

Answer 3

retinoblastoma

Question 4

 Genetic counseling for parents who have a child with retinoblastoma:
• Unilateral with no FHx: 1% chance of sibling having retinoblastoma
• Bilateral with no FHx: 8% chance of sibling having retinoblastoma
• 2 children with retinoblastoma, hereditary form, 40% chance of 3rd child having retinoblastoma
Genetic counseling for parents who have retinoblastoma: what’s the chance their child get it
• Non-hereditary,unilateralcase–10%chance
• Bilateral–50%

Answer 4

retinoblastoma

Question 5

unilateral retinoblastoma with no FHx: chance for sibling

Answer 5

1% chance of sibling having retinoblastoma

Question 6

bilateral retinoblastoma with no FHx: chance of sibling

Answer 6

8% chance of sibling having retinoblastoma

Question 7

Failure of primary vitreous to regress
May present as leukocoria
 Features:
– Dense, white vitreous band extending from disc to fundus periphery or to the back of lens
– Could be vascularized (persistent hyaloid artery)
– Can cause retinal traction/detachment – Associated relative microphthalmos

Answer 7

persistent hyperplastic primary vitreous (PHPV)

Question 8

bergmeister’s papillae and mittendorf dot can be seen in what disease?

Answer 8

PHPV

Question 9

Most common cause in pediatric population is trauma
Other causes
– Proliferative retinopathy
– High myopia
– ROP
– Aphakia
– Lattice degeneration

Answer 9

retinal detachment

Question 10

Growth of abnormal blood vessels in the retina of some premature infants
In most premature infants, blood vessel growth continues after birth until the entire retina contains normal vessels
In ROP, blood vessel growth stops after birth, so normal blood vessels do not extend to the edges of the retina
2 phases: Acute v.s. regression phase

Answer 10

retinopathy of prematurity (ROP)

Question 11

Area of avascular retina needs the nutrients and oxygen that are normally provided by retinal blood supply

Sends out signals that stimulate the growth of new blood vessels (i.e. VEGF)

Neovascularization creates leaky vessels that allow fluid into the retina and vitreous, causing scarring

Scarring pulls the retina away from the back of the eye towards the vitreous

Retinal detachment and vision loss

Answer 11

order of retinopathy of prematurity (ROP)

Question 12

Risk Factors:

• Premature Birth (

Answer 12

risk factors of ROP

Question 13

Zones: Location of retina affected
– Zone 1: Circular area with ONH in the center
– Zone 2: concentric annular area from nasal ora to temporal equator
– Zone 3: Temporal crescent
 Sectors:
– “clock hours”

Answer 13

international classification of ROP (ICROP)

Question 14

which zone is more severe in terms of ROP

Answer 14

zone 1: CLOSES to onh

Question 15

Stages: referring to the acute disease phase
– Stage 1: line of demarcation
Distinct border between vascularized and avascular retina
– Stage 2: ridge of elevated tissue
– Stage 3: neovascularization with extraretinal
fibrovascularization
– Stage 4: retinal detachment • 4a: macular not involved
• 4b: macular detached
– Stage 5: total retinal detachment

Answer 15

stages of acute disease phase for ROP

Question 16

what stage for acute disease phase represents least severe stage?

Answer 16

stage 1

Question 17

Plus disease: posterior venous dilation and arteriolar tortuosity
More likely to occur when ROP is more posterior
Accompanied by vitreous haze, iris vessel engorgement

Answer 17

ICROP

Question 18

– Distinct border between vascularized and avascular
retina
• Flat at the border
• Vascularized = pinkish & translucent • Avascular = whitish & opaque

Answer 18

ROP STAGE 1

Question 19

– Elevated ridge of tissue forms between vascularized
and avascular retina
– Neovascularization begins forming at ridge

Answer 19

ROP STAGE 2

Question 20

– Fibrovascular tissue extends from
the ridge into the vitreous
– Continuous sheet of solid pink tissue, unlike neo in DM
– May see “plus” disease at this stage

Answer 20

ROP stage 3

Question 21

– Partial retinal detachment that may or may not involve the macula
– Usually results in vision worse than 20/200

Answer 21

ROP stage 4

Question 22

– Partial retinal detachment that may or may not involve the macula
– Usually results in vision worse than 20/200

Answer 22

ROP stage 5

Question 23

– Total retinal detachment – May present as leukocoria

– Most likely visual outcome is light perception or no light perception

Answer 23

ROP stage 5

Question 24

2 phases of natural history of ROP

Answer 24

ACUTE and regression phase

Question 25

lineal progression – Relationship of ROP onset to retinal immaturity – Chronological age v.s. “corrected” age of the infant: ROP onset directly relates to the postgestational or postmenstrual age – Screening at this age for early treatment

Answer 25

acute phase of rop

Question 26

cicatricial/scaring phase | – Most unfavorable complications arise at this phase

Answer 26

regression phase of ROP

Question 27

Late Complications from ROP regression – Poor Visual Acuity – Myopia – Strabismus – Amblyopia – Glaucoma – Peripheral Retinal Breaks Stage 1 and 2, mostly regress without consequences More important prognostic indicators: – Absence of zone I involvement or plus disease (

Answer 27

PROGNOSIS OF ROP

Question 28

which phase are optometrists least likely to see for ROP?

Answer 28

ACUTE PHASE *were usually watching the regression phase (scarring)

Question 29

which stages of ROP will regress without consequences?

Answer 29

1 and 2

Question 30

Severe visual impairment present at or within 1 yr of life Responsible for 10 - 18% of congenital blindness Autosomal recessive inheritance

Answer 30

leber's congenital amaurosis

Question 31

OCULODIGITAL SIGN (eye rubbing) IS A CHARACTERISTIC OF WHAT DISEASE?

Answer 31

LEBER'S CONGENITAL AMAUROSIS

Question 32

``` Diagnosis: – Visually inattentive infant – Severely reduced visual acuity – Pendular nystagmus – Poor pupillary light response – High hyperopia common – Often associated with mental retardation or deafness – ERG: essential for diagnosis – both photopic and scotopic responses are extinguished ```

Answer 32

LEBER'S congenital amaurosis

Question 33

Fundus Appearance – At birth, often normal • May have white flecks, pigment clumping or macula pigment dysplasia – By adolescence, • Pigmentary Retinopathy • Vessel Attenuation • Optic atrophy

Answer 33

leber's congenital amaurosis

Question 34

 Night-blindness Variable vision loss: normal to mild loss Color vision and VF normal Normal fundus appearance ERG: normal photopic response, decreased scotopic response Inheritance: X-linked (most common), AR or AD Failure of communication between the rod photoreceptor inner segment and the bipolar cell

Answer 34

congenital stationary night blindness

Question 35

Reduced vision, nystagmus and poorly developed macula and fovea Found in albinism and aniridia May also be an isolated abnormality

Answer 35

foveal hypoplasia

Question 36

Both share the same chromosomal locus Both caused by abnormal accumulation of lipofuscin in RPE Characteristic yellowish-white pisciform flecks Fundus Flavimaculatus: mostly periphery – No acuity loss unless macula involved

Answer 36

stargardt's/fundus fal

Question 37

Stargardt’s disease: mostly macular – Presents at age 8 - 14 years – Slow, symmetrical progressive vision loss to 20/200 by age of 30 – Early in disease fundus may appear normal – Later loss of FR, then round, grayish or pigmented macular atrophy (beaten-metal appearance)

Answer 37

stargardt's/fundus flavimaculatus

Question 38

``` Retinal signs – Marked RPE changes, usually present at the 1st decade – “Salt and Pepper” RPE changes in early stage, start at equatorial region – Bone Spicules – Optic atrophy – Vessel attenuation Clinical symptoms usually present by age of 30 Numerous systemic associated ```

Answer 38

retinitis pigmentosa

Question 39

``` Oculoneurocutaneous syndrome Diverse ocular findings Uveal track (80%), Lid (25%), Cornea (25%), Optic nerve (12%), Retina (9%), Conjunctiva (4%) Diagnosis of NF 1 – Most have 2 or more of... 1. Café au lait spots 2. Plexiform neurofibroma 3. Inguinal/axial freckling 4. Optic nerve glioma 5. Lisch nodules 6. Family history S-shaped lid in plexiform neurofibroma  ```

Answer 39

neurofibromatosis

Question 40

lisch nodules, optic nerve glioma, optic atrophy secondary to optic nerve glioma

Answer 40

characteristics of neurofibromatosis

Question 41

Approximately 25% of Type 1 diabetics have retinopathy within 5 years of diagnosis – After 10 years, 60% – After 15 years, 80% (25% have proliferative changes) – 70% of Type 1 will develop proliferative retinopathy Must follow closely throughout life and educate patients about potential complications

Answer 41

diabetes

Question 42

child will most likely present in your office with which type diabetes

Answer 42

type 1

Question 43

Mutation in hemoglobin gene causing “sickled” shape Sickle cell syndromes common in 10% of African- Americans – Sickle-cell trait (SA) - 8 - 9% – Sickle-cell anemia (SS) - 0.4% • Worst systemically, few ocular complications • 30% of children have non-proliferative signs – Hemoglobin C Disease (SC) - 0.1 - 0.3% • Milder systemic, proliferative retinopathy common – Thalassemia (S-Thal) - 0.5 - 1% • Rare in US, proliferative retinopathy common

Answer 43

sickle cell syndrome

Question 44

``` Comma-shaped vessels in conjunctiva  Non-proliferative retinopathy – Venous tortuosity – Sunburst pigmentation – Salmon patch hemorrhages Proliferative retinopathy – Retinal neovascularization (fan-shaped) ```

Answer 44

sickle cell syndrome

Question 45

Congenital malformation, stationary Can occur in isolation or as a component of the syndrome of septo-optic dysplasia Can be monocular or binocular May vary in severity and extent of vision loss, ranging from near normal to no light perception

Answer 45

optic nerve hypoplasia

Question 46

what does hypoplasia mean?

Answer 46

underdeveloped

Question 47

hallmarks of optic nerve hypoplasia

Answer 47

small optic disc and peripapillary halo surrounding the onh (double ring sign)

Question 48

```  Small optic disc  Peripapillary halo surrounding the ONH (“double ring” sign)  Normal or slightly tortuous vessel  Decreased foveal reflex  Retinal nerve fiber layer thinning ```

Answer 48

ocular signs of optic nerve hypoplasia

Question 49

prevalence of onh in north america

Answer 49

unknown

Question 50

one of the leading causes of blindness?

Answer 50

onh

Question 51

ONH may be a component of the syndrome of septo- optic dysplasia – Include midline brain malformations and hypopituitarism. Neuroimaging may show – Hypoplasia of the corpus callosum, – agenesis of the septum pellucidum, – or pituitary malformations Most of the clinical symptoms are related to dysfunction of the hypothalamus – Hypopituitarism: GH deficiency (70%), hypothyroidism (43%), adrenal insufficiency (27%) – Thirst/hunger – Sleep dysruption – Temperature dysregulation

Answer 51

onh and systemic association

Question 52

septo-optic dysplasia refers to what part of brain?

Answer 52

– Include midline brain malformations and hypopituitarism.

Question 53

what disease is not as rare as the others?

Answer 53

onh

Question 54

Usually located inferior temporally | Over 50% will develop serous retinal detachment, with associated vision loss if macula is affected

Answer 54

optic nerve pit

Question 55

Right fundus of a 19- year-old woman with a visual acuity reduced to 6/36 due to a serous macular detachment associated with an optic disc pit (a) and attached macula following vitrectomy, photocoagulation and gas, with a final visual acuity of 6/12 (b).

Answer 55

optic nerve pit