×
Entrez Id:
5959
Gene Symbol:
RDH5
RDH5
0.800
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
5959
Gene Symbol:
RDH5
RDH5
0.800
Biomarker
disease
HPO
×
Entrez Id:
5959
Gene Symbol:
RDH5
RDH5
0.800
GeneticVariation
disease
ORPHANET
×
Entrez Id:
5959
Gene Symbol:
RDH5
RDH5
0.800
GeneticVariation
disease
CLINVAR
×
Entrez Id:
6017
Gene Symbol:
RLBP1
RLBP1
0.730
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
6017
Gene Symbol:
RLBP1
RLBP1
0.730
Biomarker
disease
HPO
×
Entrez Id:
6017
Gene Symbol:
RLBP1
RLBP1
0.730
CausalMutation
disease
CLINVAR
×
Entrez Id:
6017
Gene Symbol:
RLBP1
RLBP1
0.730
Biomarker
disease
CTD_human
×
Entrez Id:
6010
Gene Symbol:
RHO
RHO
0.710
CausalMutation
disease
CLINVAR
×
Entrez Id:
6010
Gene Symbol:
RHO
RHO
0.710
Biomarker
disease
HPO
×
Entrez Id:
6010
Gene Symbol:
RHO
RHO
0.710
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
6010
Gene Symbol:
RHO
RHO
0.710
Biomarker
disease
CTD_human
×
Entrez Id:
5961
Gene Symbol:
PRPH2
PRPH2
0.700
Biomarker
disease
HPO
×
Entrez Id:
5961
Gene Symbol:
PRPH2
PRPH2
0.700
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
5961
Gene Symbol:
PRPH2
PRPH2
0.700
GeneticVariation
disease
ORPHANET
×
Entrez Id:
5961
Gene Symbol:
PRPH2
PRPH2
0.700
Biomarker
disease
CTD_human
×
Entrez Id:
6010
Gene Symbol:
RHO
RHO
0.710
Biomarker
disease
BEFREE
However, fundus appearance, adaptometric findings, and rhodopsin determinations serve to distinguish fundus albipunctatus from other flecked retina diseases.
3500444
1987
×
Entrez Id:
5961
Gene Symbol:
PRPH2
PRPH2
0.700
GermlineCausalMutation
disease
ORPHANET
A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens.
8485575
1993
×
Entrez Id:
6010
Gene Symbol:
RHO
RHO
0.710
GeneticVariation
disease
ORPHANET
Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene.
8554077
1996
×
Entrez Id:
6017
Gene Symbol:
RLBP1
RLBP1
0.730
GeneticVariation
disease
UNIPROT
Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa.
9326942
1997
×
Entrez Id:
6017
Gene Symbol:
RLBP1
RLBP1
0.730
GeneticVariation
disease
UNIPROT
Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens.
10102299
1999
×
Entrez Id:
6017
Gene Symbol:
RLBP1
RLBP1
0.730
GermlineCausalMutation
disease
ORPHANET
Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens.
10102299
1999
×
Entrez Id:
5959
Gene Symbol:
RDH5
RDH5
0.800
GeneticVariation
disease
BEFREE
Our results suggest that mutant alleles in RDH5 are a cause of fundus albipunctatus , a rare form of stationary night blindness characterized by a delay in the regeneration of cone and rod photopigments.
10369264
1999
×
Entrez Id:
5959
Gene Symbol:
RDH5
RDH5
0.800
GeneticVariation
disease
UNIPROT
Our results suggest that mutant alleles in RDH5 are a cause of fundus albipunctatus , a rare form of stationary night blindness characterized by a delay in the regeneration of cone and rod photopigments.
10369264
1999
×
Entrez Id:
5959
Gene Symbol:
RDH5
RDH5
0.800
CausalMutation
disease
CLINVAR
These findings strongly implicate defects of RDH5 as the cause of fundus albipunctatus and point to a heterogeneity of RDH5 mutations in this form of congenital stationary night blindness with variable expressivity.
10617778
1999