Autosomal recessive isolated optic atrophy
Synonyms: Autosomal recessive non-syndromic optic atrophy
A rare hereditary optic atrophy characterized by an early onset of bilateral optic nerve degeneration without other systemic features. Clinical manifestations include pallor of the optic disks severe but slowly progressing visual impairment and in some patients also paracentral scotoma photophobia and dyschromatopsia.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Autosomal recessive isolated optic atrophy?
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