Retinal degeneration-nanophthalmos-glaucoma syndrome

Orpha code: 1574OMIM code: 267760

Definicja

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
Klasyfikacja

Malformation syndrome

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

No additional description.

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