Cataracts

1/3 genetic, 1/3 diseases, 1/3 idiopathic

monocular are not metabolic or genetic

capsule forms in 5th week and limits entry of organisms

opacities >3mm are visually significant

Anterior

polar

1/3 are bilateral

abnormal separation of lens from surface ectoderm

90% sporadic

pyramidal

2 mm projecting cone with surrounding cortical opacity

cones can be fibrotic and touch to fragment

bilateral and sporadic

subcapsular

idiopathic, trauma, often acquired

X linked dominant

Difficult capsulorhexis

in general, congenital origin

either the embryonic or fetal nucleus

usually non-progressive

bilateral are often AD inherited

Sutural

Lamellar

acquired usually after 6 months

progressive

hypoglycemia and galactosemia can cause lamellar pattern

Posterior

Posterior lenticonus

looks like PSC, bowl like central outpouching

unilateral, progressive

at surgery, post capsule often thin wispy and difficult to peel off opacity

PHPV

posterior capsular

associated with Down’s syndrome

Oil Drop cataract

associated with galatosemia

Lowe's

XLR

often with early death

ocular

most commonly small thick opaque bilateral cataracts

pupils can be very miotic with lens adhesions

female carriers have white punctate opacities throughout their lenses

glaucoma in 50% by age 6 but can be early on

corneal keloids

Hallerman Streif

Labs

especially to exclude Lowe's, galactosemia

consider TORCHS titers even in unilateral cases

Urine

reducing substances, aminoacids, blood/protein

copper, sediment

Blood

Ca+2/phos, glaucoma, amino acids, TORCHS serology, others

PHPV

wide spectrum of presentation

congenital, nonhereditary, usually unilateral

not associated with other defects except cataracts

US/CT very diagnostic

natural history of untreated eyes with moderately severe disease is progressive shallowing of anterior chamber, cataract formation, and angle closure glaucoma

Pseudogliomas

benign neoplasm

astrocytic harmartoma

can mimic RB, involvement of disc, multifocal, bilateral

usually with tuberous sclerosis, rarely with neurofibromatosis

little postnatal growth

von Hippel angioma

medulloepithelioma

uveitis

nematode endophthalmitis

usually older boys, inflammation more

inactive lesions show more changes than RB (cataract, synechiae, etc)

ELISA + 90% with 1:8 dil

retinitis, old VH

Non-rhegmatogenous retinal detachment

Coats'

usually older boys age 8-10 years old

anomalous grapelike clusters of leaking blood vessels

serous RD with dilated vessels can look like retinoblastoma

aneurysmal dilation can look like angioma, but no feeder vessels

about one half of untreated patients will progress

treatment includes laser and cryotherapy

retinal dysplasia

juvenile retinoschisis

Misc

retinal hemorrhage

retinal folds

colobomas

Retinoblastoma

1:20,000 births, becoming more common

6% with FH, 25% have genetic mutation 13q14 with low esterase D levels

1-3 y.o., present older when unilateral

70% are unilateral with 30% bilateral

1/5 of unilateral on presentation get 2nd eye affected later

signs different for endophytic/exophytic

metastasis late with spinal cord, bone, skull, lymph nodes, abdomen

pineal gland trilateral tumor with very poor prognosis

up to 50% with secondary cancers especially osteogenic sarcoma, fibrosarcoma, rhabdomyosarcoma many years later

Genetic risk

history

determine if germline or somatic

germline in multiplex and multifocal cases

simplex disease with unifocal RB has 12% risk for germline mutation

remember carrier status due to 80% penetrance

unaffected parents with one child mutifocal RB have 6% risk for second child

examine family for regressed retinocytoma

Molecular genetic analysis

can find the specific gene mutation using Southern blotting

RFLP’s to do linkage studies

Diffuse infiltrating RB

(1%) likely to be missed

occurs later (6 y.o.), unilateral, grows slower

RX

CT, MRI: look for calcification, pineal gland

U/S: A scan with high internal reflectivity and echo spikes from calcification, B scan with orbital shadowing

bone scan, bone marrow, lumbar puncture as needed

with massive tumor, enucleation may be primary procedure

external beam radiation, Episcleral plaque, Photocoagulation, cryotherapy

systemic chemotherapy

5 yr survival >90%, poorer with metastasis

Histology

Flexner Wintersteiner rosettes -an attempt to make photoreceptors with clear lumen

fleurette with outer segs of photoreceptors

Homer Wright rosette- lumen with neurofibrillary material, also in medulloblastoma, neuroblastoma

pseudorosette-tumor around necrosis

viable tumor around vessels with areas of necrosis

ROP

85% of ROP is transient disease with spontaneous regression

examine all children born under 32 weeks or weighing less than 1,500 gm

CRYO-ROP study had 6% of children <1251 gm reach threshold, 20% prethreshold, 60% have some ROP

initial exam at a post-conceptual age of 32 weeks

plus disease is retinal tortuosity and dilation, pupil rigidity, vitreous haze

plus disease with ROP Zone I = rush disease, exam q48 hrs

rx

decreases the risks of a bad outcome by 50%

treat for 5 continuous clock hours or 8 total clock hrs of Stage 3 plus disease

cryotherapy or indirect laser