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Literature summary for extracted from

  • Gonzalez-Fernandez, F.; Kurz, D.; Bao, Y.; Newman, S.; Conway, B.; Young, J.; Han, D.; Khani, S.
    11-cis Retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus (1999), Mol. Vis., 5, XI-XII.
No PubMed abstract available


Application Comment Organism
medicine examination of two unrelated families, each family with two affected members with typical fundus albipunctatus. RDH5 mutations were found in the affected siblings in both families. The proband in one has a homozygotic Gly238Trp missense mutation (GGG to TGG) involving exon 4 and in the other carries compound heterozygotic changes Arg280His (CGC to CAC) and Ala294Pro (GCC to CCC) in exon 5. The disease phenotype is only manifested in family members with two abnormal RDH5 alleles consistent with autosomal recessive inheritance in both pedigrees Homo sapiens


Organism UniProt Comment Textmining
Homo sapiens Q92781