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L. I. van den Born, K. W. Littink, S. Yzer, J. P. Martinez Ciriano, G. S. Baarsma, A. I. den Hollander, F. P. M. Cremers; Phenotypic and Molecular Analysis of RP and LCA Patients With Coats-Like Exudative Vasculopathy Without the RP12 Phenotype. Invest. Ophthalmol. Vis. Sci. 2008;49(13):3105.
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Coats-like exudative vasculopathy is a rare complication in patients with retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA). The association of Coats-like exudative vasculopathy and RP with preserved para-arteriolar retinal pigment epithelium (RP12) caused by mutations in the CRB1 gene has been established. The purpose of this project was to study RP and LCA patients with Coats-like exudative vasculopathy without the RP12 phenotype and to identify the genetic causes.
Eight RP patients of 7 families (3 patients of 2 autosomal recessive families, 1 patient of an autosomal dominant family and 4 simplex patients), and 3 isolated LCA patients with uni or bilateral exudative vasculopathy were examined including electroretinography (11 patients), perimetry (10 patients), and fundus photography (10 patients). On 3 patients follow-up of more than 20 years was available. Blood samples were obtained for DNA analyses.
Four patients presented with atypical RP and four with classic RP. The fundus abnormalities in the LCA patients varied. Age at recent examination ranged from 4 to 64 years (median 34 years). Visual acuity was 20/200 or less in 14 eyes of 11 patients. Complications of the Coats-like exudative vasculopathy included cystoid macula edema (9 eyes), vitreous hemorrhage (1 eye), exudative retinal detachment (3 eyes) and neovascular glaucoma (4 eyes). Two atypical RP patients of 1 family carried compound heterozygous CRB1 mutations. One patient with classic RP was found to have one CRB1 mutation. The dominant RP patient carried a causative mutation in the PRPF8 gene. In one LCA patient, compound heterozygous CEP290 mutations were detected. No novel mutations were identified.
Coats-like exudative vasculopathy in RP and LCA patients leads to a rapid loss of (residual) visual function. Besides mutations in the CRB1 gene, PRPF8 and CEP290 mutations may be associated with RP and LCA with Coats-like exudative vasculopathy.
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