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Peds > anomalies > Flashcards

anomalies Flashcards

1
Q

anterior megalophthalmos
assoc
findings

A

assoc: marfans
mucolipidosis type II
Apert’s syndrome

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2
Q

cornea plana

A

chromosome 12
assoc: sclerocornea, angle closure glaucoma
K 20-30 (equal to sclera)
path: diffuse scarring/vascularization of stroma, thick epi, absent Bowman’s, thin descemets

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3
Q

Megalocornea

A

newborn with horizontal diameter > 12mm
X-linked
M>F (9:1)
Assoc: Marfan’s, alport’s, down’s syndrome, craniosynostosis
Findings: weak zonules, large cornea, sublxated lens, ectopic pupil

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4
Q

Microcornea

A

less than 9 mm
AD or sporadic, arrested development at 5 mo
dwarfism
Ehlers-danlos syndrome
Findings: hyperopic, cataract or coloboma, PHPV, glaucoma - angle closure or open angle

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5
Q

axenfeld’s anomaly

A 
AD
posterior embryotoxon
iris processes to scleral spur
50% develop glaucoma
FOXC1, PAX6, REIG1, REIG2
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6
Q

Alagille’s Syndrome

A

axenfeld’s (posteior embryotoxon with iris strands to SS)
Pus pigmentary retinopathy, esotropia, corectopia
Systemic: absent deep tendon reflexes
absent facies
pulmonic valve stenosis
chrom 20p12 - ERG and EOG abnormal

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7
Q

Reiger’s anomaly

A

axenfelds (posterior embryotoxon + iris strands to SS) + iris hypoplasia with holes
50% develop glaucoma
RIEG1, REIG2, FOXC1, PAX6

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8
Q

Reiger’s syndrome

A

Reiger’s anomaly (axenfelds + iris hypoplasia + holes)
With mental retardation
dental, craniofacial, GU skeletal abnormalities also

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9
Q

Peter’s anomaly

A

central corneal leukoma (defect in Descemet’s membrane)
absence of endothelium
iris adhesions with lens involvement
also - cardiac, craniofacia, skeletal abnormalities
mostly sporadic
80% bilateral
PAX6 (11p13), PTX2, CYP1B1, FOXC1

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10
Q

Differential for cloudy cornea

A 
STUMPED
Sclerocornea
Trauma - tears in Descemet's membrane
Ulcer
Metabolic
Peter's anomaly
Edema (CHEDS)
Dermoids
Also: CHSD, rubella, poserior keratocouns, congenital corneal staphyloma
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11
Q

CHED - congenital hereditary endothelial dystrophy
CHED1
CHED2

A

rare
bilateral corneal clouding
chromosome 20p
CHED 1- AR (2 yo, pain, tearing, photophobia, progressive)
CHED 2 - AR - more common, at birth, nystagmus, no pain/tearing, nonprogressive

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12
Q

Congeital hereditary stromal dystrophy

A 
rare
AD
nonprogressive
clear peripherally, no edema
can cause strabismus, nystagmus, ambylopia
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13
Q

dermoid

A

solid, yellow-white choristoma
25% bilateral
Assoc: Goldenhar’s syndrome, linear sebaceous nevus syndrome
limbal - inferior temporal (most common)
complications: astigmatism, ambylopia

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14
Q

Aniridia

types, genetics, associations

A

hereditary or sporadic PAX6
AN1 - AD (2/3) only have eye involvement
AN 2 - sporadic (1/3) - associated with Wilm’s tumor and WAGR (wilms, aniridia, GU abnml, mental retardation
AN 3 - AR - Gillespie’s syndrome - mental retardation and ataxia

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15
Q

Gillespie syndrome

A

AR
Aniridia (2% of cases)
mental retardation
ataxia

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16
Q

Aniridia - associations

A 
foveal and optic nerve hypoplasia
glaucoma (30-50%)
cataracts (50-80%)
nystagmus
photophobia
amblyopia
limbal stem cell deficiency

PAX6 (11p13)

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17
Q

iris coloboma

location and associations

A

most commonly inferiornasal
assoc: Goldenhar’s syndrome, CHARGE, trisomy 13,18,22, chrom 18 deletion, Klinefelter’s syndrome, Turner’s syndrome, Meckel’s syndrome, basal cell nevus syndrome, linear sebaceous nevus syndrome

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18
Q

Ectropion uveae

Congenital iris ectropion syndrome

A

ectropion of posterior pigment epithelium onto anterior surface of the iris
Assoc: NF and Prader-Willi

unilateral, high iris insertion, angle dysgenesis, glaucoma, smooth crypt-less iris

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19
Q

corectopia

Dyscoria

A

displacement of pupil
assoc: axenfeld-reiger syndrome, iridocorneal endothelial syndrome uveitis, trauma

abnormally shaped pupil
assoc: PS, axenfeld-reiger syndrome, ectopia lentis et pupillae

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20
Q

Brushfield’s spots

Lisch Nodules

A

in 85% of down syndrome pts
focal areas of iris stromal hyperplasia surrounded by relative hypoplasia

NF-1
neural crest hamartomas
increase in frequency and number with age

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21
Q

JXG

A

histiocytic proliferation
yellow-tan nodules
spontaneous hyphemas with iris involvement
rarely have orbital granulomas
often regress by age 5
Path: proliferation of histiocytes with Touton giant cells

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22
Q

Mittendorf’s dot

A

white opacity on posterior lens

remnant of tunica vasculosa lentis where hyaloid artery is inserted

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23
Q

Lenticonus

A

cone-shaped lens abnormalities

Anterior - bilateral M>F
Alport’s (anterior lenticonus, nerphritis, deafness)

Posterior - unilateral, F>M, more common

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24
Q

microspherophakia

A

small, spherical lens
bilateral
sonules visable
pupillary block can occur - tx is cycloplegic
Assoc: Weill-marchesani, Alport’s syndrome, congenital rubella, peter’s anomaly

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25
Q

Optic nerve hypoplasia

A 
small disc
vessels exit centrally
double ring sign
APD
amblyopia
nystagmus

need: MRI and endocrine work-up

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26
Q

Associations with optic nerve hypoplasia

A

maternal diabetes, anticonvulsants, alcohol, LSD, quinine
Midline brain defects
Pituitary dysfunction
aniridia
CHARGE
Demorsier’s syndrome (septo-optic dysplasia)

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27
Q

De Morsier’s syndrome

A

= septo-optic dysplasia
bilateral ON hypoplasia
midline CNS anomalies (absent septum pellucidum)
pituitary/hypothalamus deficiency

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28
Q

Optic Pit

Congenital vs Aquired

A

unilateral
depression in ON with peripapillary RPE changes
inferior-temporal most common
40-45% develop serous RD or macular retinoschisis

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29
Q

Optic nerve coloboma

A

incomplete closure of embryonic fissure
inferonasal
assoc with other colobomas/small eyes
Rare assoc with basal encephalocele

30
Q

Optic nerve coloboma assoc with multisystem gene disorders

A 
Meckel-Gruber syndrome
Golz's focal dermal hypoplasia
Lenz microphthalmia syndrome (X-linked_
Renal-coloboma syndrome (AD - PAX2)
CHARGE syndrome
31
Q

CHARGE syndrome

A 
Coloboma
Heart defect
Atresia choanae
Retarded growth
Genital anomalies
Ear anomalies/deafness
32
Q

Morning Glory Disc Anomaly

A

Unilateral, F, high myopia
Poor vision, RAPD
no other colobomas
30% develop peripapillary nonrhegmatogenous RD
Retinal vessels are straight and exit from the borders

33
Q

What to worry about with morning glory disc anomalies

A

transphenoidal basal encephalocele

34
Q

Acquired optic atrophy

A 
compressive tumors:
craniopharyngioma
ON or chiasmal glimoas
hydrocephalus
neonatal anoxia
35
Q

Leber’s hereditary optic neuropathy -
Triad
demographics
Genes

A

circumpapillary telangiectasia
pseudoedema of the disc
absence of fluorescein staining of ON/vessels
M:F (9:1)
sequential bilateral vision loss
Maternal mitochondrial DNA
11778 (worst, most common), 3460, 14484 (best prog)

Red green VA loss

36
Q

Dominant optic atrophy
signs
gene

A 
= Kjer's syndrome(AD)
most common optic atrophy
Bilateral, symmetric
temporal pallor
OPA 1 (3q28)
VA 20/40-20/200
Blue/yellow vision loss
37
Q

Behr’s optic atrophy

A

Recessive (BehRRR)
infantile, severe VA loss < age 5
M&raquo_space;> F

38
Q

Behr’s syndrome

A 
AR optic atrophy (M >>> F)
menal retardation
cerebellar ataxia
hypertonia
nystagmus
39
Q

Optic nerve drusen
associations
complications

A

sporadic or AD
75% bilateral, prelaminar portion of ON
Assocc: Angioid streaks, RP, Alagille’s syndrome
Comp: VF defect, enlarged blind spot, rarely AION, CNV

40
Q

Ectopia lentis associated with

A
  1. Simple ectopia lentis (AD)
  2. ocular trauma
  3. Aniridia
  4. Ectopia lentis et pupillae (AR)
  5. Marfan’s (superior temporal)
  6. Homocystinuria (inferior nasal)
  7. Weill Marchesani
  8. hyperlysinemia
  9. Syphilis
  10. Ehlers-Danlos
41
Q

bilateral congenital cataracts

A 
idiopathic (60%)
TORCHS (3%)
hereditary (AD- 30%)
maternal drug/malnutrition
trauma
42
Q

Anterior polar

A 
usually sporadic 
nonprogressive
unilateral
not visually significant
associated with microphthalmos and anterior lenticonus
43
Q

Lamellar

A

unilateral or bilateral, sand dollar
if bilateral - AD, neonatal hypoglycemia, galactosemia
progresses to be visually signficant eventually (later in life)

44
Q

nuclear

A 
usually AD (esp if bilateral)
need to be removed early
45
Q

Sutural cataract

A

bilateral opacification of Y sutures

46
Q

posterior lenticonus

A

unilateral, sporadic
F > M
assoc with PHPV

47
Q

Posterior polar

A

larger,
more visually significant
AD (if bilateral)

48
Q

Work up for bilateral cataract

A

urinalysis (look for reducing substances (galactosemia, amino acids - lowe’s syndrome)
Ca/phos, glucose, TORCHS titers
Karyotype - trisomy 13, 18, 21, turner’s cri-du-chat
audiogram - rubella, alport’s
red blood cell galactokinase levels

49
Q

work-up for unilateral cataract

A

trauma/child abuse

TORCHS titers

50
Q

DDx for leukocoria

A 
cataract
retinoblastoma
PFV
toxoplasmosis
toxocariasis
RD
ROP
Coats Disease
Coloboma
Norrie's disease
incontinentia pigmenti
medulloepithelioma
51
Q

indications for cataract surgery

A

central cataract > 3 mm
dense nuclear cataract
nystagmus or strabismus
near vision worse than 20/50 or 20/60

52
Q

primary congenital glaucoma

A

AR, sporadic
Chrom 2
CYP1B1, GLC3A
K diameter birth >12 mm, 1-2 yrs > 12.5 mm, older > 13 mm.
Habb’s striae - circumfrencial or horizontal
Tearing, photophobia, blepharospasm
progressive myopia

53
Q

Associations with primary congenital glaucoma

A

aniridia, axenfeld/reiger/peter’s anomaly, microcornea, sclerocornea, ROP, PHPV, tumors

54
Q

PHPV (PFV)

A

unilateral, sporadic
microphthalmic
vascularized retrolental plaque (can contain cartilage)
angle closure glaucoma, Vit heme RD

55
Q

Sturge-Weber

A

sporadic
facial hemangiomas - nevus flammeus (port-wine stain). V1 and V2
bilateral in 10%
glaucoma in 33% (early because of traneculodysgenesis, late because of incr episcleral venous pressure)

56
Q 
tricks tor remember phakomatoses
W rule
S Rule
Glaucoma in who?
Inheritance
A

AD except Ataxia telengectasia (AR)
*I smell A RAT (AR - AT)
W = sporadic (Sturge Weber/ Wyburn- Mason)
S = Seizures (Tuberous sclerosis/Sturge-Weber)
50% Glaucoma risk if upper lid involved (NF, Sturge-weber)

57
Q

Neurofibromatosis

A 
AD
NF-1 (chrom 17)
cafe au lait, axial/groin freckles, optic nerve glioma, lisch nodules (increase with age), sphenoid wing dysplagia
NF-2 chrom 22
PSC cataracts, acuoustic neuroma, ataxia
58
Q

Von-Hippel-Lindau

A

AD, chrom 3 (three names, three organs, chrom 3)
50% bilateral
hamartomas of eye, brain, kidney
retinal angiomas, CNS tumors, visceral lesions, renal cell carcinoma, pheochromocytoma

59
Q

Tuberous sclerosis

A

AD
adenoma sebaceum, MR, epilepsy = Volt’s triad
acsterocytic hamartoma of retina, astrocity hamartoma of ON,
facial angiofibromas, ash leaf spots, shagreen patches
MR, seizures, cerebral calcifications

60
Q

Ataxia telangeictasia

A 
AR (only phakomatoses that is AR)
dilated conj vessels, impaired convergence, nystagmus, IgA deficiency = increase infections/malignancy
MR
cerebellar ataxia
thymic hypoplasia
61
Q

Wyburn-Mason syndrome

A

sporadic
Racemose hemangioma of retina
AV malformations in ipsilateral brain - Siezures, mental changes, VF defects)

62
Q

retinal cavernous hemangioma

A

cluster of grapes

fluid levels without leakage on FA

63
Q

Incontinentia Pigmenti

A

Xlinked Dom - only in females, lethal in males
proliferative retinal vasculopathy
RD
retrolental membrane
alopecia
microcephaly, hydrocephalus, seizures, MR
missing or cone shaped teeth

64
Q

DDx for intraocular cartilage

A

PHPV
medulloepithelioma
teratoma
trisomy 13

65
Q

When to treat ROP

A

zone 1 stage 3
zone 1 any stage with plus disease
zone 2 stage 2 or 3 with plus disease

66
Q

DDx for retinal dragging

A

ROP
PHPV
FEVR
Toxocara

67
Q

ROP threshold disease

A

Zone 1 or 2, stage 3 with plus disease

5 contiguous or 8 noncontiguous hours

68
Q

FEVR

A

AD or X linked
chrom 11 (EVR 1,2,3)
progressive developmental abnormalitiy of peripheral retinal vasculature

69
Q

Coats’ disease

A

sporadic, M&raquo_space;> F (10:1)
90% unilateral
leukocoria, strabismus
telangiectatic vessels with subretinal lipid in OPL,
noncalcified yellow subretinal lesions
Exudative RD in 2/3
FA - blood-fluid levels with saccular aneurysms

70
Q

Norrie’s Disease

A 
X linked
bilateral leukocoria (white/hemorrhagic retrolental mass) , peripheral NV, retinal necrosis

ASSOC: deafness MR

71
Q

Stargardt’s

A

AR
juvenile macular degeneration with flecks
nyctolopia and decr VA in first 2 decades
bilateral pisciform, yellow-white flecks, beaten-bronze appearance, bull’s eye maculopathy

Dark choroid due to lipofuscin accumulation in lipofuscin

72
Q

Best’s disease

A

AD

Peds (5 decks)

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