Congenital Stationary Night Blindness
Gene: RDH5
Main features are fleck retina and night blindness. More than 20 families with bi-allelic disease reported, older reports of mono-allelic disease.Created: 27 Oct 2021, 4:58 a.m. | Last Modified: 27 Oct 2021, 4:58 a.m.
Panel Version: 0.17
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Fundus albipunctatus (MIM#136880)
Publications
Gene: rdh5 has been classified as Green List (High Evidence).
Phenotypes for gene: RDH5 were changed from Achromatopsia, Cone, and Cone-rod Dystrophy; Fundus albipunctatus, 136880; Fundus albipunctatus; Congenital Stationary Night Blindness to Fundus albipunctatus (MIM#136880); Congenital Stationary Night Blindness
Publications for gene: RDH5 were set to
Mode of inheritance for gene: RDH5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of inheritance for gene: RDH5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: RDH5 was added gene: RDH5 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: RDH5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: RDH5 were set to Achromatopsia, Cone, and Cone-rod Dystrophy; Fundus albipunctatus, 136880; Fundus albipunctatus; Congenital Stationary Night Blindness