Retinal degeneration-nanophthalmos-glaucoma syndrome

Orpha code: 1574OMIM code: 267760

Definition

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.

Disease data
Classification

Malformation syndrome

Synonyms
Mackay-Shek-Carr syndrome
Zespół Mackay'a, Sheka i Carra
ORPHA code
1574
OMIM code
267760
ICD10 code
H35.5
ICD11 code
9E1Y

No additional description.

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