Retinal dystrophies caused by mutations in RPE65: assessment of visual functions

The British Journal of Ophthalmology
C P HamelB Arnaud

Abstract

To characterise the disease in patients with mutations in RPE65. Individuals from two families were studied clinically. 13 and 20 year old compound heterozygote individuals from one family with R234X and 1121delA mutations showed nystagmus, macular dystrophy and low contrasted spots in the fundus. Some heterozygotes had macular drusen. A 40 year old compound heterozygote individual from another family with L22P and H68Y mutations had few bone spicule pigment deposits and macular atrophy. Compound heterozygote individuals had severe rod-cone dystrophies featuring few pigment deposits in the fundus, pigment epithelium atrophy, and early involvement of the macula, with variations in severity leading to the diagnosis of Leber's congenital amaurosis or retinitis pigmentosa. Macular drusen in heterozygotes carrying a null allele may reflect the decreased capacity in the RPE65 function.

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Citations

Sep 21, 2004·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·Lena IvertPeter Gouras
Nov 27, 2004·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·Karina PaunescuBirgit Lorenz
Mar 7, 2006·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·Leila El MatriFrancis L Munier
Aug 2, 2003·Progress in Retinal and Eye Research·Debra A Thompson, Andreas Gal
Oct 6, 2005·Retina·Jennifer A GalvinRobert K Koenekoop
Apr 20, 2005·Proceedings of the National Academy of Sciences of the United States of America·Samuel G JacobsonJean Bennett
Apr 8, 2014·Comptes rendus biologies·Christian P Hamel
Jan 1, 2013·Drug Discovery Today. Therapeutic Strategies·Konstantin Petrukhin
Feb 13, 2016·Journal français d'ophtalmologie·A ChebilL El Matri
Apr 20, 2010·Progress in Retinal and Eye Research·Artur V Cideciyan
Feb 5, 2005·Ophthalmology·Jennifer A GalvinRobert K Koenekoop
Nov 27, 2004·Clinica Chimica Acta; International Journal of Clinical Chemistry·D Y WangC P Pang
Nov 25, 2006·Journal of Theoretical Biology·Hao GuoElizabeth R Gaillard
Mar 25, 2006·Journal of Theoretical Biology·Hao GuoElizabeth R Gaillard
Nov 13, 2003·Vision Research·Rita S SitorusMarkus N Preising
Jul 1, 2005·Physiological Reviews·Olaf Strauss
Feb 20, 2004·Public Health Nutrition·I Darnton-HillW P T James
Feb 8, 2020·Retina·Laurence H M PierracheL Ingeborgh van den Born

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