The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations

Archives of Ophthalmology
Sharola DharmarajIrene Maumenee

Abstract

To describe the phenotype of Leber congenital amaurosis (LCA) in 26 probands with mutations in aryl hydrocarbon receptor interacting protein-like 1 protein (AIPL1) and compare it with phenotypes of other LCA-related genes. To describe the electroretinogram (ERG) in heterozygote carriers. Patients with AIPL1-related LCA were identified in a cohort of 303 patients with LCA by polymerase chain reaction single-strand confirmational polymorphism mutation screening and/or direct sequencing. Phenotypic characterization included clinical and ERG evaluation. Seven heterozygous carrier parents also underwent ERG testing. Seventeen homozygotes and 9 compound heterozygotes were identified. The W278X mutation was most frequent (48% of alleles). Visual acuities ranged from light perception to 20/400. Variable retinal appearances, ranging from near normal to varying degrees of chorioretinal atrophy and intraretinal pigment migration, were noted. Atrophic and/or pigmentary macular changes were present in 16 (80%) of 20 probands. Keratoconus and cataracts were identified in 5 (26%) of 19 patients, all of whom were homozygotes. The ERG of a parent heterozygote carrier revealed significantly reduced rod function, while ERGs for 6 other carrier pa...Continue Reading

Citations

Sep 15, 2004·Proceedings of the National Academy of Sciences of the United States of America·Xiaoqing LiuTiansen Li
Jan 1, 2010·Human Molecular Genetics·Lindsay T KirschmanVisvanathan Ramamurthy
May 26, 2007·Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft·M N PreisingB Lorenz
Dec 17, 2009·Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus·Daniel C Chung, Elias I Traboulsi
Oct 1, 2009·Clinical & Experimental Ophthalmology·Monika PradhanAndrea Vincent
Dec 8, 2004·Brain Research. Molecular Brain Research·Michael A DyerMelanie M Sohocki
Oct 22, 2013·Seminars in Ophthalmology·Han-Ying Peggy Chang, James Chodosh
Jul 18, 2008·Progress in Retinal and Eye Research·Anneke I den HollanderFrans P M Cremers
Oct 3, 2014·Human Molecular Genetics·Cristy A KuVisvanathan Ramamurthy
Oct 1, 2016·Seminars in Ophthalmology·Maan Alkharashi, Anne B Fulton
Jul 27, 2007·Clinical & Experimental Ophthalmology·Robert K KoenekoopFrans P M Cremers
Aug 6, 2009·Cornea·Nitin UdarM Cristina Kenney
Oct 4, 2017·Human Molecular Genetics·Pooja BiswasRadha Ayyagari
Feb 9, 2012·Cornea·Yee Onn KokSeng Chee Loon
Aug 13, 2011·Current Opinion in Ophthalmology·Anya A Trumler
Oct 3, 2019·Ophthalmic Genetics·Ling WanLulin Huang
Oct 16, 2015·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·A HedergottA Neugebauer
Apr 23, 2020·Annual Review of Vision Science·Sionne E M Lucas, Kathryn P Burdon
Jun 6, 2013·The Journal of Biological Chemistry·Anurima MajumderNikolai O Artemyev
May 31, 2012·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·Robert B HufnagelRobert A Sisk
Sep 20, 2020·International Journal of Molecular Sciences·Mayur Choudhary, Goldis Malek
Jul 26, 2017·Proceedings of the National Academy of Sciences of the United States of America·Ravi P YadavNikolai O Artemyev
Dec 2, 2017·Journal of Cellular and Molecular Medicine·Saber ImaniJunjiang Fu
May 20, 2020·Frontiers in Cell and Developmental Biology·Raju V S Rajala
Feb 17, 2015·World Journal of Clinical Cases·Oscar Francisco Chacon-Camacho, Juan Carlos Zenteno
Dec 4, 2020·The Application of Clinical Genetics·Srikanta Kumar PadhySubhadra Jalali
Aug 3, 2020·Cornea·Luca BuzzonettiPaola Valente
Oct 23, 2019·Experimental Eye Research·Altaf A Kondkar, Khaled K Abu-Amero

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