Abstract
Retinitis pigmentosa (RP) is a group of hereditary, degenerative retinal disorders characterized by progressive retinal dysfunction, outer retina cell loss, and retinal tissue atrophy. It eventually leads to tunnel vision and legal or total blindness. Here, we aimed to reveal the causal gene and mutation contributing to the development of autosomal recessive RP (arRP) in a consanguineous family. A novel homozygous mutation, c.4845delT (p.K1616Rfs*46), in the ATP-binding cassette subfamily A member 4 gene (ABCA4) was identified. It may reduce ABCA4 protein activity, leading to progressive degeneration of both rod and cone photoreceptors. The study extends the arRP genotypic spectrum and confirms a genotype–phenotype relationship. The present study may also disclose some new clues for RP genetic causes and pathogenesis, as well as clinical and genetic diagnosis. The research findings may contribute to improvement in clinical care, therapy, genetic screening, and counseling.
Highlights
Retinitis pigmentosa (RP, OMIM 268000) is a heterogeneous group of hereditary, degenerative retinal disorders with the estimated worldwide prevalence of 1/3000–1/7000
RP is a class of inherited degenerative retinal diseases characterized by progressive retinal dysfunction, outer retina cell loss, and retinal tissue atrophy, eventually leading to tunnel vision and legal or total blindness [7,28]
The variant was present in three patients, and absent from an unaffected family member, the 100 normal controls, the dbSNP142, the 1000 Genomes Project, NHLBI ESP6500, and Exome Aggregation Consortium (ExAC)
Summary
Retinitis pigmentosa (RP, OMIM 268000) is a heterogeneous group of hereditary, degenerative retinal disorders with the estimated worldwide prevalence of 1/3000–1/7000. It affects approximately 0.1% of population in China [1,2]. Its features include night blindness, narrowed vision fields, gradually decreasing visual acuity, and fundus lesions eventually leading to tunnel vision and legal blindness [3,4]. It is frequently accompanied by cataracts, astigmatism, myopia, keratoconus, and hearing impairment except for those with Usher syndrome, which is characterized by RP and congenital deafness [5]. The products of these genes participate in various molecular signal pathways, including, but not limited to, photoreceptor development, retinoid cycle, phototransduction, cilia, outer segment development, and protein transport [13]
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