Eye finding genoderms

Question 1

Comma-shaped corneal opacities?

Answer 1

X-linked icthyosis

Question 2

Whorl-like corneal opacities?

Answer 2

Fabry disease

Question 3

Keratoconus (gradual bulging from normal round shape to cone shape)

Answer 3

Down syndrome, atopic dermatitis

Question 4

Painful keratitis, dendritic corneal ulcers (pseudoherpetic)?

Answer 4

Richner-Hanhart syndrome

Question 5

Photophobia, keratitis, neovascularization, eventual blindness?

Answer 5

KID syndrome

Question 6

Anterior subcapsular cataracts?

Answer 6

Atopic dermatitis

Question 7

Lester iris (hyperpigmentation around pupillary margin of iris)?

Answer 7

Nail-patella syndrome

Question 8

Heterochromia iridis (two different eye colors in same individual)?

Answer 8

Waardenburg syndrome

Question 9

Lisch nodules (pigmented hamartomatous nevi in iris)?

Answer 9

Neurofibromatosis

Question 10

Coloboma (defect in iris)?

Answer 10

Goltz syndrome

Question 11

Ectopia lentis (lens dislocation), downward?

Answer 11

Homocystinuria

Question 12

Ectopia lentis (lens dislocation), upward?

Answer 12

Marfan syndrome

Question 13

Anterior uveitis, lacrimal gland enlargement with increased lacrimation?

Answer 13

Sarcoidosis

Question 14

Uveitis (anterior or posterior), glaucoma?

Answer 14

Behcet’s disease

Question 15

Angioid streaks

Answer 15

Pseudoxanthoma elasticum, lead poisoning

Question 16

Congenital hypertrophy of retinal pigment epithelium (CHRPE)?

Answer 16

Gardner syndrome

Question 17

Retinitis pigmentosa (salt/pepper)?

Answer 17

Cockayne syndrome, refsum disease

Question 18

Perifoveal glistening white dots in ocular fundus?

Answer 18

Sjogren-Larsson syndrome

Question 19

Retinal phagomas (hamartomas)?

Answer 19

Tuberous sclerosis