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Items: 4

1.

Leber optic atrophy

Leber hereditary optic neuropathy (LHON) typically presents in young adults as bilateral, painless, subacute visual failure. The peak age of onset in LHON is in the second and third decades of life, with 90% of those who lose their vision doing so before age 50 years. Very rarely, individuals first manifest LHON in the seventh and eighth decades of life. Males are four to five times more likely to be affected than females, but neither sex nor mutational status significantly influences the timing and severity of the initial visual loss. Neurologic abnormalities such as postural tremor, peripheral neuropathy, nonspecific myopathy, and movement disorders have been reported to be more common in individuals with LHON than in the general population. Some individuals with LHON, usually women, may also develop a multiple sclerosis-like illness. [from GeneReviews]

MedGen UID:
182973
Concept ID:
C0917796
Disease or Syndrome
2.

Leber hereditary optic neuropathy, autosomal recessive

MedGen UID:
1786310
Concept ID:
C5543589
Disease or Syndrome
3.

Arteriosclerosis, severe juvenile

MedGen UID:
395330
Concept ID:
C1859725
Disease or Syndrome
4.

Central retinal vessel vascular tortuosity

The presence of an increased number of twists and turns of retinal blood vessels (arteries, arterioles, veins, venules). [from HPO]

MedGen UID:
867211
Concept ID:
C4021569
Finding
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