Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome

Orpha code: 251279OMIM code: 611040

Definicja

Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localized foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity, and, on occasion, acute-angle glaucoma.

Disease data
Klasyfikacja

Disease

Synonimy
Nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
Kod ORPHA
251279
Kod OMIM
611040
Kod ICD10
Q15.8
Kod ICD11
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl