Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 (CRB1) Gene
- 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.
DOIAbstract
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 <20 years. Because of the early onset of disease in patients who have RP with PPRPE, we considered CRB1 to be a good candidate gene for Leber congenital amaurosis (LCA). Mutations were detected in 7 (13%) of 52 patients with LCA from the Netherlands, Germany, and the United States. In addition, CRB1 mutations were detected in five of nine patients who had RP with Coats-like exudative vasculopathy, a relatively rare complication of RP that may progress to partial or total retinal detachment. Given ...
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