Retinal degeneration-nanophthalmos-glaucoma syndrome

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Synonyms: Mackay-Shek-Carr syndrome

Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction) cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive.

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 Data version May 2024

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