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A novel mutation in RDH5 gene causes retinitis pigmentosa in consanguineous Pakistani family.

Genes & genomics - 1 May 2018

Sultan Neelam, Ali Irfan, Bukhari Shazia Anwer, Baig Shahid Mahmood, Asif Muhammad, Qasim Muhammad, Naseer Muhammad Imran, Rasool Mahmood

Abstract excerpt

Retinitis pigmentosa (RP) is the most frequent genetically and clinically heterogeneous inherited retinal degeneration. To date, more than 80 genes have been identified that cause autosomal dominant, autosomal recessive and X linked RP. However, locus and allelic heterogeneity of RP has not been fully captured yet. This heterogeneity and lack of an accurate genotype phenotype correlation makes molecular...

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Identifiers

PMID: 29892959
DOI: 10.1007/s13258-018-0657-5

Genes

RDH5

Variants

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