Lecture 2 Flashcards
Most common autosomal dominant CT disease in north America
Stickers Syndrome
-Associated with abnormal collagen
Systemic and ocular signs of stickers
Hypermobile joints
Hearing difficulties
Cleft pallate
Epicanthal folds
Vitreous degeneration Light fundus Myopia Lattice RPE abnormalities 70% have Retinal breaks, cataracts
Glass wool appearance to vitreous
Amyloid degeneration
Amyloid degen has ocular manifestations in __% of patients
10%
Retinoschisis is technically the splitting of retinal layers at the
NFL
X linked retinoschisis. How many have peripheral schisis?
half
Wagners has a high risk of ___
Retinal detachment
Wagners has what type of atrophy
called Wagners Hereditary vitreoretinal degeneration
Also has choroioretinal atrophy
How to manage Wagners
Refer for genetic testing, VCAN gene. Autosomal dominant.
What is the difference between RPE pigmentation in Wagners and Favre’s?
Wagners- Scatterd RPE pigmentation
Favre’s- clumped and near vessels in the form of bony spicules
Which has complaints of night vision
Favre’s
X linked retinoschisis vs Favre’s EOG and ERG
Schisis
EOG- altered
ERG- subnormal
Favres
EOG- Subnormal
ERG- abnormal
Sticklers. What is the % of retinal breaks, RD, and cataracts?
70%
Primary vitreous only consists of the
Hyaloid artery system
Turns into tunica vasculosa lentis (nourishes lens as it grows)
Anterior findings in PFV
Leukocoria from vessels --> intralenticular hemes Microophthalmia Cataract Shallow AC Drawn in ciliary process / ectropion uveal *the above 4 contribute to glaucoma Strab/amblyopia due to opacification Iris coloboma
Epicapsular stars
Remnant of the tunica vasculosa lentis on the anterior lens capsule.
Persistent pupillary membrane
Remnant of tunica vasculosa lentis on the iris
Mittendorf dot
Remnant of hyaloid artery on the posterior lens capsule, usually nasal.
Posterior findings in PFV
Leukocoria bc vitreous opacification Microophthalmia Retinal folds due to traction vitreous stalks Macula pigment disruption Clear lens Strab
Management of PFV
Surgery when obstructing visual axis (don’t want strab), retinal traction could lead to detachment, or there is a risk of angle closure glaucoma.
Differentiate between ROP and retinoblastoma.
