Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort

Investigative Ophthalmology & Visual Science
Ditta ZoborSusanne Kohl

Abstract

Mutations in the retinitis pigmentosa-1-like-1 (RP1L1) gene are the major cause of autosomal dominant occult macular dystrophy (OCMD), while recessive mutations have been linked to autosomal recessive retinitis pigmentosa (arRP). We present the clinical phenotype of a large German OCMD cohort, as well as four RP patients. A total of 42 OCMD patients (27 families) and 4 arRP patients (3 families) with genetically confirmed mutations in RP1L1 were included. Genomic DNA was analyzed by targeted analysis of the c.133C>T;p.R45W mutation for all RP or macular dystrophy-related genes. All patients underwent ophthalmologic examination including psychophysical tests, electrophysiology, fundus autofluorescence (FAF), and spectral domain optical coherence tomography (SD-OCT). Follow-up time was up to 12 years. In 25 OCMD index patients genomic testing revealed the heterozygous mutation c.133C>T;p.R45W in RP1L1; one patient was homozygous for the mutation. Two OCMD patients displayed the variants c.3599G>A;p.G1200D and c.2849G>A;p.R950H, respectively, in a heterozygous state. All OCMD patients showed characteristic clinical findings and typical microstructural photoreceptor changes. Two arRP patients displayed the novel homozygous mutation...Continue Reading

References

Sep 15, 1989·American Journal of Ophthalmology·Y MiyakeY Kawase
Nov 1, 1996·American Journal of Ophthalmology·Y MiyakeH Terasaki
Jan 1, 1997·Human Mutation·R A SpritzR G Weleber
Jan 15, 2000·The British Journal of Ophthalmology·S FujiiM Yamamoto
Apr 18, 2002·Proceedings of the National Academy of Sciences of the United States of America·Jiangang GaoJian Zuo
Mar 29, 2003·Klinische Monatsblätter für Augenheilkunde·Hannes WildbergerArmin Junghardt
Apr 30, 2003·American Journal of Ophthalmology·Mineo KondoYozo Miyake
Sep 26, 2003·Investigative Ophthalmology & Visual Science·Qin LiuEric A Pierce
Jul 23, 2004·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Qin LiuEric A Pierce
May 3, 2005·Journal of Medical Genetics·S KhaliqS Q Mehdi
Feb 28, 2006·Documenta Ophthalmologica. Advances in Ophthalmology·Jonathan S Lyons
Mar 27, 2009·Ophthalmic Surgery, Lasers & Imaging : the Official Journal of the International Society for Imaging in the Eye·Hideki KoizumiRichard F Spaide
Aug 7, 2009·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Tetsuji YamashitaJian Zuo
Sep 10, 2010·American Journal of Human Genetics·Masakazu AkahoriTakeshi Iwata
May 11, 2011·Archives of Ophthalmology·Kaoru FujinamiYozo Miyake
Nov 1, 2011·Documenta Ophthalmologica. Advances in Ophthalmology·Donald C HoodUNKNOWN International Society For Clinical Electrophysiology of Vision
Apr 17, 2012·Optometry and Vision Science : Official Publication of the American Academy of Optometry·Takaaki HayashiHiroshi Tsuneoka
Nov 15, 2012·Methods in Molecular Biology·Kornelia NevelingRob W J Collin
Dec 12, 2012·Archives of Ophthalmology·Connie J ChenMorton F Goldberg
Apr 27, 2013·Documenta Ophthalmologica. Advances in Ophthalmology·Takashi OkunoTsunehiko Ikeda
Jun 8, 2013·Investigative Ophthalmology & Visual Science·Seong Joon AhnSe Joon Woo
May 20, 2014·Documenta Ophthalmologica. Advances in Ophthalmology·Hidenori TakahashiHidetoshi Kawashima
Feb 11, 2015·Japanese Journal of Ophthalmology·Yozo Miyake, Kazushige Tsunoda
Feb 19, 2015·BioMed Research International·Sachiko KikuchiHiroshi Takahashi
Jun 11, 2015·Documenta Ophthalmologica. Advances in Ophthalmology·Daphne L McCullochMichael Bach
Sep 12, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Nisha PatelFowzan S Alkuraya
Nov 7, 2015·Investigative Ophthalmology & Visual Science·Ayami NakanishiHiroko Terasaki

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Citations

Dec 14, 2019·Ophthalmic Genetics·Maan Abdullah AlbarrySulman Basit
Mar 17, 2020·Investigative Ophthalmology & Visual Science·Dan-Dan WangJi-Hong Wu
May 17, 2019·Journal of Ophthalmology·Yu Fujinami-YokokawaOn Behalf Of Japan Eye Genetics Consortium
Nov 15, 2019·Investigative Ophthalmology & Visual Science·Natsuko NakamuraYozo Miyake
Feb 10, 2020·The Journal of Molecular Diagnostics : JMD·Ana Rodríguez-MuñozJosé M Millán
Dec 17, 2020·Retina·Prithvi RamtohulWon Ki Lee
Jul 25, 2020·American Journal of Ophthalmology·Lizhu YangUNKNOWN East Asia Inherited Retinal Disease Society Study Group
Dec 31, 2021·Ophthalmic Genetics·George J ManayathVenkatapathy Narendran

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