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A.I. Den Hollander, S.D. van der Velde-Visser, M. Zonneveld, R.K. Koenekoop, U. Kellner, I.L. van den Born, J.R. Heckenlively, C.B. Hoyng, F.P. Cremers; Mutation Analysis of CRB1 in Patients With Retinitis Pigmentosa, Leber Congenital Amaurosis and Classic Coats Disease . Invest. Ophthalmol. Vis. Sci. 2003;44(13):2309.
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Purpose: Previously, we identified the CRB1 gene and found mutations in patients with retinitis pigmentosa type 12 (RP12), characterized by preserved para-arteriolar retinal pigment epithelium (PPRPE), in patients with Leber congenital amaurosis (LCA), and in RP patients with Coats-like exudative vasculopathy. We performed mutation analysis on additional RP patients with PPRPE and/or Coats-like exudative vasculopathy and LCA patients. In addition, we screened a panel of ‘classic' RP patients, and patients with classic Coats disease. Methods: Mutation analysis was performed on DNA samples of 97 Dutch patients with ‘classic' RP, 44 Canadian LCA patients and 18 patients with classic Coats disease by single-stranded conformational analysis (SSCA) using primer sets to amplify exons 1-12 of the CRB1 gene. DNA samples of RP patients with PPRPE and/or Coats-like exudative vasculopathy were screened by sequencing. Results: We identified CRB1 mutations in 21 of 31 (68%) RP patients with PPRPE, in 4 of 7 (57%) RP patients with PPRPE and Coats-like exudative vasculopathy, and in 3 of 9 (33%) ‘classic' RP patients with Coats-like exudative vasculopathy. In 97 ‘classic' RP patients we identified CRB1 mutations in only 1 (1%) patient. In 44 Canadian LCA patients we identified CRB1 mutations in only 1 (2%) patient, while we had previously identified CRB1 mutations in 7 of 52 (13%) LCA patients, predominantly of German origin. No mutations were detected in patients with classic Coats disease. Conclusions: CRB1 mutations are an important cause of RP with PPRPE and/or Coats-like exudative vasculopathy, but not of ‘classic' RP. RP with PPRPE and/or Coats-like exudative vasculopathy are genetically heterogeneous, since we did not detect CRB1 mutations in all patients. The frequency of CRB1 mutations is considerably lower in Canadian than in German LCA patients.
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