Congenital nystagmus
Gene: RDH5
Older reports of AD inheritance.Created: 27 Oct 2021, 4:56 a.m. | Last Modified: 27 Oct 2021, 4:56 a.m.
Panel Version: 0.9502
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Fundus albipunctatus (MIM#136880)
Publications
PubMed: 14718298 Fishman et al. (2004) evaluated the molecular genetic defects associated with autosomal recessive retinitis punctata albescens in 5 patients from 3 families. One of the probands was compound heterozygous for mutations in the RLBP1 gene; her parents manifested round white deposits in the retina. The other 2 probands had no detected pathogenic mutations in the RLBP1 gene or in 3 other genes evaluated: RDH5, RBP3 (180290), and RDH8 (608575)
PubMed: 11812441 Nakamura and Miyake (2002) reported fundus albipunctatus and a novel macular dystrophy in a 9-year-old boy who was a compound heterozygote for mutations in the RDH5 gene (601617.0006-601617.0007). The authors described the patient's macular findings, visual acuity, and electrophysiologic responses. They concluded that the macular dystrophy was caused by the RDH5 mutations as a phenotype variation of fundus albipunctatus.
Main features are fleck retina and night blindnessCreated: 27 Oct 2021, 12:42 a.m. | Last Modified: 27 Oct 2021, 12:42 a.m.
Panel Version: 0.96
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Fundus albipunctatus 136880
Publications
Variants in this GENE are reported as part of current diagnostic practice
PMID: 32232344
25 patients from 22 families reported
variable degree of macular involvement was noted
NOTE: OMIM lists AD and AR. However, unable to find any AD reportsCreated: 22 Feb 2021, 10:01 p.m. | Last Modified: 22 Feb 2021, 10:01 p.m.
Panel Version: 0.6418
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Fundus albipunctatus (MIM#136880)
Publications
Gene: rdh5 has been classified as Red List (Low Evidence).
Phenotypes for gene: RDH5 were changed from Congenital Stationary Night Blindness; Fundus albipunctatus; Fundus albipunctatus, 136880; Achromatopsia, Cone, and Cone-rod Dystrophy to Fundus albipunctatus, MIM# 136880
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
Gene: rdh5 has been classified as Red List (Low Evidence).
gene: RDH5 was added gene: RDH5 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: RDH5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RDH5 were set to Congenital Stationary Night Blindness; Fundus albipunctatus; Fundus albipunctatus, 136880; Achromatopsia, Cone, and Cone-rod Dystrophy