Retinal degeneration-nanophthalmos-glaucoma 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.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 7

HPO ID Term Frequency
HP:0000505 Visual impairment Very frequent (99-80%)
HP:0000512 Abnormal electroretinogram Very frequent (99-80%)
HP:0000545 Myopia Very frequent (99-80%)
HP:0000568 Microphthalmia Very frequent (99-80%)
HP:0000648 Optic atrophy Very frequent (99-80%)
HP:0007703 Abnormality of retinal pigmentation Very frequent (99-80%)
HP:0000639 Nystagmus Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID