ONH - HEREDITARY OPTIC NEUROPATHIES

Question 1

symptoms of hereditary optic neuropathies?

Answer 1

• permanent vision loss

Question 2

tx for ONH hereditary conditons?

Answer 2

• no tx
• refer for genetic counseling
• refer to low vision specialist

Question 3

what is dominant optic atrophy? what is the inheritance pattern?

Answer 3

AD condition characterized by bilateral degeneration of the optic nerve

Question 4

onset of dominant optic atrophy?

Answer 4

around age 5

Question 5

what is the most common herediatry optic neuropathy?

Answer 5

dominant optic atrophy

Question 6

symptoms of dominant optic atrophy?

Answer 6

• symmetrical slow progressive vision loss in the first decade (up to 20/800)

Question 7

signs of dominant optic atrophy?

Answer 7

• temporal optic disc pallor (more common)
• VF defects – central or cecocentral scotoma
• dyschromatopsia (color blindness)

Question 8

what is Leber’s hereditary optic neuropathy?

Answer 8

it is a maternally inherited mitochondrial Dz

Question 9

onset of Leber’s hereditary optic neuropathy?

Answer 9

age 10-30

Question 10

symptoms of Leber’s hereditary optic neuropathy?

Answer 10

• severe, acute, painless loss of central vision in one eye which will progress to the second eye within days to months
• VF defects – cnetral or cecocentral scotoma

Question 11

signs of Leber’s hereditary optic neuropathy?

Answer 11

• ONH hyperemia (redness)
• ONH telangiectasia (engorged spidery clumping of capillaries)
• ONH pseduoedema (swelling of the peripapillary ON fiber)
• optic atophy