Lecture 2

Question 1

Most common autosomal dominant CT disease in north America

Answer 1

Stickers Syndrome

-Associated with abnormal collagen

Question 2

Systemic and ocular signs of stickers

Answer 2

Hypermobile joints
Hearing difficulties
Cleft pallate
Epicanthal folds

Vitreous degeneration 
Light fundus 
Myopia 
Lattice 
RPE abnormalities 
70% have Retinal breaks, cataracts

Question 3

Glass wool appearance to vitreous

Answer 3

Amyloid degeneration

Question 4

Amyloid degen has ocular manifestations in __% of patients

Answer 4

10%

Question 5

Retinoschisis is technically the splitting of retinal layers at the

Answer 5

NFL

Question 6

X linked retinoschisis. How many have peripheral schisis?

Answer 6

half

Question 7

Wagners has a high risk of ___

Answer 7

Retinal detachment

Question 8

Wagners has what type of atrophy

Answer 8

called Wagners Hereditary vitreoretinal degeneration

Also has choroioretinal atrophy

Question 9

How to manage Wagners

Answer 9

Refer for genetic testing, VCAN gene. Autosomal dominant.

Question 10

What is the difference between RPE pigmentation in Wagners and Favre’s?

Answer 10

Wagners- Scatterd RPE pigmentation

Favre’s- clumped and near vessels in the form of bony spicules

Question 11

Which has complaints of night vision

Answer 11

Favre’s

Question 12

X linked retinoschisis vs Favre’s EOG and ERG

Answer 12

Schisis
EOG- altered
ERG- subnormal

Favres
EOG- Subnormal
ERG- abnormal

Question 13

Sticklers. What is the % of retinal breaks, RD, and cataracts?

Answer 13

70%

Question 14

Primary vitreous only consists of the

Answer 14

Hyaloid artery system

Turns into tunica vasculosa lentis (nourishes lens as it grows)

Question 15

Anterior findings in PFV

Answer 15

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

Question 16

Epicapsular stars

Answer 16

Remnant of the tunica vasculosa lentis on the anterior lens capsule.

Question 17

Persistent pupillary membrane

Answer 17

Remnant of tunica vasculosa lentis on the iris

Question 18

Mittendorf dot

Answer 18

Remnant of hyaloid artery on the posterior lens capsule, usually nasal.

Question 19

Posterior findings in PFV

Answer 19

Leukocoria bc vitreous opacification 
Microophthalmia 
Retinal folds due to traction
vitreous stalks 
Macula pigment disruption 
Clear lens 
Strab

Question 20

Management of PFV

Answer 20

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.