Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome

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Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome

Synonyms: Nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome

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.

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 March 2024

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Clinical Trials

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