Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome

Orpha code: 251279OMIM code: 611040

Definition

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
Classification

Disease

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

No additional description.

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