Autosomal dominant optic atrophy and cataract

Orpha code: 67036OMIM code: 165300

Definition

A form of autosomal dominant optic atrophy characterized by an early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes. It is caused by mutations in the <i>OPA3</i> gene (19q13.32).

Disease data
Classification

Disease

Synonyms
Autosomal dominant optic atrophy type 3
Autosomalna dominująca atrofia nerwu wzrokowego typu 3
OPA3, autosomalna dominująca
OPA3, autosomal dominant
ORPHA code
67036
OMIM code
165300
ICD10 code
H47.2
ICD11 code
-

No additional description.

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