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Items: 3

1.

Optic atrophy 5

OPA5 is an autosomal dominant form of nonsyndromic optic atrophy, manifest as slowly progressive visual loss with variable onset from the first to third decades. Additional ocular abnormalities may include central scotoma and color vision defects. The pathogenesis is related to defective mitochondrial fission (summary by Gerber et al., 2017). For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500). [from OMIM]

MedGen UID:
377837
Concept ID:
C1853139
Disease or Syndrome
2.

Optic atrophy 8

Optic atrophy-8 (OPA8) is an autosomal dominant neurologic disorder characterized by progressive visual loss during the first or second decade of life. Some patients may have additional features, mainly late-onset sensorineural hearing loss. For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500). [from OMIM]

MedGen UID:
898923
Concept ID:
C4085249
Disease or Syndrome
3.

Abnormality of pattern visual evoked potentials

MedGen UID:
892912
Concept ID:
C4072946
Finding
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