May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
Phenotypic and Molecular Analysis of RP and LCA Patients With Coats-Like Exudative Vasculopathy Without the RP12 Phenotype
Author Affiliations & Notes
  • L. I. van den Born
    The Rotterdam Eye Hospital, Rotterdam, The Netherlands
  • K. W. Littink
    The Rotterdam Eye Hospital, Rotterdam, The Netherlands
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
  • S. Yzer
    The Rotterdam Eye Hospital, Rotterdam, The Netherlands
  • J. P. Martinez Ciriano
    The Rotterdam Eye Hospital, Rotterdam, The Netherlands
  • G. S. Baarsma
    The Rotterdam Eye Hospital, Rotterdam, The Netherlands
  • A. I. den Hollander
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
  • F. P. M. Cremers
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
  • Footnotes
    Commercial Relationships  L.I. van den Born, None; K.W. Littink, None; S. Yzer, None; J.P. Martinez Ciriano, None; G.S. Baarsma, None; A.I. den Hollander, None; F.P.M. Cremers, None.
  • Footnotes
    Support  SWOO-Flieringa Foundation, The Rotterdam Eye Hospital
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 3105. doi:https://doi.org/
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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. doi: https://doi.org/.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: : 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.

Methods: : 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.

Results: : 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.

Conclusions: : 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.

Keywords: retinal degenerations: hereditary • genetics 
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