-
a novel homozygous missense mutation, (c.602 C > T) in exon 4 of the RDH5 gene (MIM: 601617) was identified. This mutation resulted in substitution of phenyl alanine for serine at amino acid 201 (p.Ser201Phe) of the RDH5 gene. Identification of this mutation reveals the allelic heterogeneity of RDH5 in patients with retinitis pigmentosa phenotype.
-
We conclude that the expression of Rlbp1 and Rdh5 critically depends on functional Mitf in the RPE and suggest that MITF has an important role in controlling retinoid processing in the RPE.
-
A novel c.832C>T (p.Arg278Ter) nonsense mutation in RDH5 was identified. Preserved rod function was observed in one young subject in this study.
-
Macular cone density is lower and the regularity of the macular cone mosaic spatial arrangement is disrupted in eyes with fundus albipunctatus.
-
RDH5 sequence analysis revealed a novel five base pair deletion, c.913_917delGTGCT (p.Val305Hisfs*29), in family A, and a novel missense mutation, c.758T>G (p.Met253Arg), in family B with fundus albipunctatus.
-
Four novel RDH5 gene mutations were identified in fundus albipunctatus Israeli patients. Of them, the null mutations c.343C>T (p.R54X) and c. 242delTGCC were the most prevalent.
-
The proband had a compound heterozygotic missense mutation of Cys59Ser (TGC --> AGC) and a nonsense mutation of Trp95ter (TGG --> TGA) in the RDH5 gene.
-
The clinical and electrophysiologic phenotype of patients with RDH5 retinopathy is variable.
-
Mutations in RDH5 associated with fundus albipunctatus seem to prevent normal lipofuscin accumulation.
-
An amino acid important for steroid/retinoid discrimination was identified and its significance was highlighted by the results of molecular modeling studies.
-
Macular dystrophy is caused by the RDH5 mutation as a phenotype variation in fundus albipunctus.
-
Macular dystrophy is caused by the RDH5 gene mutation as a phenotype variation in fundus albipunctatus.
-
Fundus changes due to Fundus albipunctatus associated with mutations in the RDH5 gene.
-
RDH5 gene mutations cause a progressive cone dystrophy or macular dystrophy as well as night blindness. The clinical phenotype including electrophysiological responses varied among patients with the RDH5 gene mutations.
-
A homozygous G490T (Val164Phe) missense RDH5 gene mutation was detected.
-
Homozygous Gly107Arg mutation in the RDH5 gene in two unrelated Japanese families with fundus albipunctatus.
-
Cone dystrophy can be present in patients with fundus albipunctatus, not only elderly men but also young women.
-
Our study indicates that different mutations in the RDH5 gene can cause phenotypic variations of either fundus albipunctatus or familial fleck retina with night blindness.
-
study describes an unusual family which included a mother with fundus albipunctatus and three children with typical retinitis pigmentosa; a novel RDH5 mutation was found
