Exudative vasculopathy in a child with Leber congenital amaurosis

J AAPOS. 2014 Jun;18(3):297-9. doi: 10.1016/j.jaapos.2014.01.006. Epub 2014 Apr 24.

Abstract

Leber congenital amaurosis is a severe retinal dystrophy that causes blindness or severe visual impairment, usually before the age of 1 year. We present the case of a 13-year-old girl with Leber congenital amaurosis who developed an exudative vasculopathy. She was successfully treated with cryotherapy and argon green laser. To our knowledge, only 4 cases of this condition in patients with Leber congenital amaurosis have been reported previously. This phenotype may be related to c.2991+1655A>G (p.Cys998X) mutations in the CEP290 gene.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Antigens, Neoplasm / genetics
  • Biomarkers, Tumor / genetics
  • Cell Cycle Proteins
  • Cryotherapy
  • Cytoskeletal Proteins
  • Exudates and Transudates
  • Female
  • Humans
  • Laser Coagulation
  • Leber Congenital Amaurosis / complications*
  • Leber Congenital Amaurosis / genetics
  • Mutation
  • Neoplasm Proteins / genetics
  • Retinal Neovascularization / diagnosis
  • Retinal Neovascularization / etiology*
  • Retinal Neovascularization / therapy
  • Retinal Telangiectasis / diagnosis
  • Retinal Telangiectasis / etiology*
  • Retinal Telangiectasis / therapy
  • Visual Acuity / physiology
  • Vitreous Hemorrhage / diagnosis
  • Vitreous Hemorrhage / etiology*
  • Vitreous Hemorrhage / therapy

Substances

  • Antigens, Neoplasm
  • Biomarkers, Tumor
  • Cell Cycle Proteins
  • Cep290 protein, human
  • Cytoskeletal Proteins
  • Neoplasm Proteins