Optic Nerve Disease

Question 1

Optic nerve hypoplasia gene

Answer 1

• HESX1 (AD)
• only 1% of cases

Question 2

First tier test for optic nerve hypoplasia

Answer 2

CMA

Question 3

The only optic nerve disease that is non-progressive

Answer 3

optic nerve hypoplasia

Question 4

Leber hereditary optic neuropathy
* inheritance
* group more affected
* outlook

Answer 4

• maternal inheriance (mito)
• more common in males
• spontaneous recovery can happen in certain variants

Question 5

Optic atrophy vision loss expectations

Answer 5

• slowly progressive
• color vision loss
• acuity varies from 20/20 to legal blindness or worse

Question 6

Characteristic imaging finding for optic atrophy

Answer 6

temporal pallor of optic nerve

Question 7

Optic atrophy
* age of onset
* gene
* inheritance

Answer 7

• <20 yo
• OPA1
• AD

Question 8

What is Wolfram syndrome?

Answer 8

Syndromic form of optic atrophy

Question 9

Wolfram syndrome genes (2)

Answer 9

• WFS1
• CISD2

syndromic optic atrophy

Question 10

Wolfram Syndrome phenotype

Answer 10

• optic nerve atrophy
• hearing loss
• diabetes