Ocular Manifestations of Systemic Disease

Question 1

ectopia lentis + ? = meets criteria for Marfan

Answer 1

• dilation of aortic root
  OR
• FBN1 mutation

Question 2

Which 2 genetic syndromes are associated with ectopia lentis?

lens falls out of place or is dislocated

Answer 2

1. Marfan Syndrome
2. Homocystinuria

Question 3

Gene associated with ectopia lentis

Answer 3

FBN1

Question 4

Well-Marchesani ocular finding

Answer 4

• microspherophakia
• micro = small
• sphero = spherical
• phakia = lens
• lens falls out forward pushing on iris leading to glaucoma

Question 5

Weill-Marchesani genes and inheritance

Answer 5

• AD = FBN1
• AR = ADAMTS10, ADAMTS17, LTPB2

Question 6

Maternally inherited deafness-diabetes gene

Answer 6

MT-TL

Question 7

WAGR is associated with

Answer 7

aniridia

Question 8

Cat eye syndrome is associated with

Answer 8

coloboma

Question 9

NF1

Answer 9

Lisch nodules

Question 10

incontinetia pigmenti

Answer 10

• retinal nonperfusion
• leaky
• grows weird
• male lethal