Congenital nystagmus
Gene: RDH5

RDH5 (retinol dehydrogenase 5)
EnsemblGeneIds (GRCh38): ENSG00000135437
EnsemblGeneIds (GRCh37): ENSG00000135437
OMIM: 601617, Gene2Phenotype
RDH5 is in 4 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

10369264

Created: 27 Oct 2021, 4:56 a.m.
Last Modified: 27 Oct 2021, 4:56 a.m.
Panel version: Imported from Mendeliome panel version 0.9502

Belinda Chong (Victorian Clinical Genetics Services)

Red List (low evidence)

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 blindness
Created: 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

Created: 27 Oct 2021, 12:42 a.m.
Last Modified: 27 Oct 2021, 12:42 a.m.
Panel version: 0.96

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

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 reports
Created: 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

32232344

Created: 22 Feb 2021, 10:01 p.m.
Last Modified: 22 Feb 2021, 10:01 p.m.
Panel version: Imported from Mendeliome panel version 0.6418

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Red
Royal Melbourne Hospital
Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Fundus albipunctatus, MIM# 136880

OMIM

601617

Clinvar variants

Variants in RDH5

Penetrance

None

Publications

Panels with this gene