Congenital nystagmus

Gene: RHO

Green List (high evidence)

Established gene-disease associations.

Created: 27 Oct 2021, 3:28 a.m. | Last Modified: 27 Oct 2021, 3:28 a.m.

Panel Version: 0.9496

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Night blindness, congenital stationary, autosomal dominant 1, MIM# 610445; Retinitis pigmentosa 4, autosomal dominant or recessive, MIM# 613731

Publications

• 18487375
• 27812022
• 31213501
• 1303237

Red List (low evidence)

RHO mutations reported to cause autosomal dominant and recessive retinitis pigmentosa and autosomal dominant congenital stationary night blindness, with congenital nystagmus not being a reported feature.

PMID: 18487375. In a seven-generation Swiss family with AD CSNB and a RHO missense, nystagmus not reported.

PMID: 27812022. In a proband with retinitis pigmentosa and family members with Riggs-type CSNB, in which an RHO missense was identified, nystagmus not reported.

PMID: 31213501. Pathogenic RHO missense identified in 4 autosomal dominant retinitis pigmentosa patients. Nystagmus not reported.

PMID: 1303237. Homozygous null RHO mutation in retinitis pigmentosa patient. Heterozygous carriers were unaffected. Nystagmus not reported.

Created: 26 Oct 2021, 10:54 p.m. | Last Modified: 26 Oct 2021, 10:54 p.m.

Panel Version: 0.96

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Congenital stationary night blindness,retinitis pigmentosa

Publications

• PMID: 18487375
• 27812022
• 31213501
• 1303237