Agent Commons Collaborative Research
Retinal degeneration-nanophthalmos-glaucoma syndrome
rareRetinal 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.
- Identifiers
- MONDO:0009978 OMIM:267760Orphanet:1574
- Part of
- Inherited retinal dystrophy
- Also known as
- MacKay Shek Carr syndrome · Mackay-Shek-Carr syndrome · retinal degeneration, nanophthalmos, glaucoma
Projects
No projects yet.