Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 ( CRB1) Gene

Mutations in the crumbs homologue 1 ( CRB1) gene cause a specific form of retinitis pigmentosa (RP) that is designated “RP12” and is characterized by a preserved para-arteriolar retinal pigment epithelium (PPRPE) and by severe loss of vision at age

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Bibliographic Details
Published in:American journal of human genetics 2001-07, Vol.69 (1), p.198-203
Main Authors: Hollander, Anneke I. den, Heckenlively, John R., van den Born, L. Ingeborgh, de Kok, Yvette J.M., van der Velde-Visser, Saskia D., Kellner, Ulrich, Jurklies, Bernhard, van Schooneveld, Mary J., Blankenagel, Anita, Rohrschneider, Klaus, Wissinger, Bernd, Cruysberg, Johan R.M., Deutman, August F., Brunner, Han G., Apfelstedt-Sylla, Eckart, Hoyng, Carel B., Cremers, Frans P.M.
Format: Article
Language:English
Subjects:
Adult
Age of Onset
Biological and medical sciences
Blindness - genetics
Blindness - pathology
Child
DNA Mutational Analysis
Female
Genes, Recessive - genetics
Genotype
Humans
Infant
Male
Medical sciences
Mutation - genetics
Ophthalmology
Optic Atrophies, Hereditary - genetics
Optic Atrophies, Hereditary - pathology
Pedigree
Phenotype
Retinitis Pigmentosa - genetics
Retinitis Pigmentosa - pathology
Retinopathies
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Description
Summary:Mutations in the crumbs homologue 1 ( CRB1) gene cause a specific form of retinitis pigmentosa (RP) that is designated “RP12” and is characterized by a preserved para-arteriolar retinal pigment epithelium (PPRPE) and by severe loss of vision at age
ISSN:0002-9297
1537-6605
DOI:10.1086/321263