Foveal hypoplasia-presenile cataract syndrome

Orpha code: 2253OMIM code: 136520

Definicja

A rare genetic ocular disease characterized by congenital nystagmus (horizontal, vertical and/or torsional), foveal hypoplasia, presenile cataracts (with typical onset in the second to third decade of life), and normal irides. Corneal pannus and/or optic nerve hypoplasia may also be present.

Disease data
Klasyfikacja

Disease

Synonimy
O'Donnell-Pappas syndrome
Zespół O'Donnella i Pappasa
Kod ORPHA
2253
Kod OMIM
136520
Kod ICD10
H26.0
Kod ICD11
9C2Y

No additional description.

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