Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis

Nature Genetics
Isabelle PerraultJ Kaplan

Abstract

Leber's congenital amaurosis (LCA, MIM 204,000), the earliest and most severe form of inherited retinopathy, accounts for at least 5% of all inherited retinal dystrophies. This autosomal recessive condition is usually recognized at birth or during the first months of life in an infant with total blindness or greatly impaired vision, normal fundus and extinguished electroretinogram (ERG). Nystagmus (pendular type) and characteristic eye poking are frequently observed in the first months of life (digito-ocular sign of Franceschetti). Hypermetropia and keratoconus frequently develop in the course of the disease. The observation by Waardenburg of normal children born to affected parents supports the genetic heterogeneity of LCA. Until now, however, little was known about the pathophysiology of the disease, but LCA is usually regarded as the consequence of either impaired development of photoreceptors or extremely early degeneration of cells that have developed normally. We have recently mapped a gene for LCA to chromosome 17p13.1 (LCA1) by homozygosity mapping in consanguineous families of North African origin and provided evidence of genetic heterogeneity in our sample, as LCA1 accounted for 8/15 LCA families in our series. Here, ...Continue Reading

References

Jan 1, 1977·American Journal of Ophthalmology·K MizunoL M Jampol
Jan 1, 1992·Annual Review of Neuroscience·P S Yuen, D L Garbers
Aug 31, 1992·Biochemical and Biophysical Research Communications·A MurakamiG Inana
Sep 1, 1990·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·R N Lolley, R H Lee
Oct 1, 1990·Human Genetics·J KaplanJ L Dufier
Oct 1, 1985·Archives of Ophthalmology·R S WagnerD Zanoni
Feb 1, 1989·European Journal of Biochemistry·M Chabre, P Deterre
Oct 1, 1985·Archives of Ophthalmology·S G FoxmanJ D Wirtschafter
Jan 1, 1968·Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift für Augenheilkunde·I Karel
Oct 24, 1995·Proceedings of the National Academy of Sciences of the United States of America·T P DryjaK W Yau
Aug 1, 1995·Human Molecular Genetics·A CamuzatC Leowski
Jul 15, 1994·Genomics·L OliveiraS J Pittler
May 1, 1958·Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift für Augenheilkunde·A FRANCESCHETTI, S FORNI
Jan 1, 1963·Acta Ophthalmologica·P J WAARDENBURG, J SCHAPPERT-KIMMIJSER

❮ Previous
Next ❯

Citations

Mar 21, 2000·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·K PalczewskiJ B Ames
Dec 8, 2004·American Journal of Medical Genetics. Part a·Elisa FazziGiovanni Lanzi
Jul 20, 2001·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·E A Pierce
Jul 19, 2002·The Journal of Gene Medicine·Fernanda B O PortoJosé Alain Sahel
Dec 24, 2011·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Keiko MiyaderaDavid R Sargan
May 26, 2007·Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft·M N PreisingB Lorenz
Sep 29, 2004·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·Motoya SatoHiroshi Ohguro
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
Dec 17, 2009·Molecular and Cellular Biochemistry·Sukanya KaranWolfgang Baehr
May 18, 2004·Biology of the Cell·Marie-Noëlle DelyferJosé-Alain Sahel
Mar 5, 2004·Survey of Ophthalmology·Ian M MacDonaldMaria A Musarella
Feb 8, 2003·Experimental Eye Research·Shagufta KhaliqS Qasim Mehdi
Mar 8, 2003·Ophthalmology·Ann H MilamSamuel G Jacobson
Apr 16, 1998·Trends in Genetics : TIG·K Gregory-Evans, S S Bhattacharya
Jul 22, 1998·Biochimie·B S Shastry
Apr 4, 1997·Molecular and Cellular Endocrinology·J HanouneN Defer
Mar 24, 2004·Brain Research Bulletin·Joshua S KrumenackerFerid Murad
Jul 9, 1997·Gene·J P JohnstonM L Applebury
Aug 1, 1997·Current Opinion in Neurobiology·K Palczewski, J C Saari
Feb 7, 1998·Current Opinion in Neurobiology·D B Farber, M Danciger
Sep 24, 1998·Journal of Photochemistry and Photobiology. B, Biology·G Rispoli
Apr 15, 2008·Trends in Endocrinology and Metabolism : TEM·B J Wedel, D L Garbers
Mar 5, 2003·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Elisa FazziGiovanni Lanzi
Jun 8, 2001·Progress in Retinal and Eye Research·S Mohand-SaidJ A Sahel
Jun 14, 2000·Clinical Genetics·G ClarkeR R McInnes
Mar 2, 2012·European Journal of Human Genetics : EJHG·Hadas Stiebel-KalishMichael Bach
Feb 28, 2013·European Journal of Human Genetics : EJHG·Frida JonssonIrina Golovleva
Oct 17, 1998·Eye·M P Simunovic, A T Moore
Oct 17, 1998·Eye·C F Inglehearn
Nov 5, 1997·Nature Genetics·A F Wright
Nov 5, 1997·Nature Genetics·F MarlhensC P Hamel
Mar 23, 2007·European Journal of Human Genetics : EJHG·Linda KöhnIrina Golovleva
Feb 28, 2002·The European Journal of Neuroscience·Yoshikazu ImanishiKrzysztof Palczewski
Mar 30, 2002·Acta Ophthalmologica Scandinavica. Supplement·Marianne Haim
Nov 17, 2010·Proceedings of the National Academy of Sciences of the United States of America·Seifollah AzadiRobert S Molday
Nov 11, 2009·The Journal of Biological Chemistry·Grzegorz BeretaKrzysztof Palczewski
Mar 19, 2002·The Journal of Biological Chemistry·J Preston Van HooserKrzysztof Palczewski
Oct 6, 2005·Retina·Jennifer A GalvinRobert K Koenekoop

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