Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa

Documenta Ophthalmologica. Advances in Ophthalmology
Kentaro KurataYoshihiro Hotta

Abstract

This study reports the ophthalmic and genetic findings of a Japanese patient with autosomal recessive retinitis pigmentosa (arRP) caused by retinitis pigmentosa 1 (RP1) mutations. The 34-year-old female patient and her unaffected parents underwent comprehensive ophthalmic examinations, including visual acuity measurements, perimetry, electroretinography (ERG), and optical coherence tomography. Fundus autofluorescence was also evaluated in the patient. To identify potential pathogenic variants, 111 inherited eye disease genes were examined by targeted next-generation sequencing. The patient had night blindness from the first decade of her life. Fundus examination revealed typical RP findings with additional macular degeneration. Her visual field and acuity were severely affected, and ERG scans showed undetectable responses. Bioinformatics analysis revealed two heterozygous potentially pathogenic variants in RP1 in the patient, one of which is novel. Co-segregation analysis in the unaffected parents confirmed that the two variants were in trans. The parents were both carriers of one RP1 variant but did not show any visual symptoms. Therefore, the identified compound heterozygous variants were proposed as the probable arRP-causing...Continue Reading

References

Feb 28, 2002·The British Journal of Ophthalmology·K DietrichE Apfelstedt-Sylla
Jul 29, 2003·Investigative Ophthalmology & Visual Science·Sharon B SchwartzEdwin M Stone
Jun 9, 2004·American Journal of Ophthalmology·Miyuki KawamuraMakoto Tamai
Jun 28, 2005·Investigative Ophthalmology & Visual Science·S Amer RiazuddinJ Fielding Hejtmancik
Nov 23, 2006·Lancet·Dyonne T HartongThaddeus P Dryja
Mar 11, 2008·Nature Biotechnology·Nayanah Siva
Oct 28, 2008·Human Mutation·Jianghua OuRolf H Sijmons
Apr 3, 2009·Investigative Ophthalmology & Visual Science·Hardeep Pal SinghChitra Kannabiran
Nov 26, 2009·Investigative Ophthalmology & Visual Science·Li Jia ChenChi Pui Pang
Dec 2, 2011·Current Genomics·Marzio ChizzoliniFrancesco Parmeggiani
Feb 10, 2012·The British Journal of Ophthalmology·May Al-RashedFowzan S Alkuraya
Feb 16, 2012·Human Mutation·Kornelia NevelingHans Scheffer
Jun 19, 2014·Database : the Journal of Biological Databases and Curation·Xia RanZi-Bing Jin
Oct 31, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Xiu-Feng HuangZi-Bing Jin
Dec 17, 2014·Documenta Ophthalmologica. Advances in Ophthalmology·Daphne L McCullochMichael Bach
Mar 20, 2015·G3 : Genes - Genomes - Genetics·Débora Y C BrandtDiogo Meyer
Jun 23, 2015·Journal of Ophthalmology·Katsuhiro HosonoYoshihiro Hotta
Feb 26, 2016·Journal of Human Genetics·Koichiro HigasaFumihiko Matsuda
Jan 1, 2015·Human Genome Variation·Yumi Yamaguchi-KabataMasao Nagasaki

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Citations

Mar 29, 2019·International Journal of Molecular Sciences·Kentaro KurataYoshihiro Hotta
Dec 14, 2019·Ophthalmic Genetics·Maan Abdullah AlbarrySulman Basit
Sep 15, 2020·Chinese Neurosurgical Journal·Mousa TaghipourMeisam Ghanbari

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