Exudative vasculopathy in a child with Leber congenital amaurosis.
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.
Department of Ophthalmology, Royal Children's Hospital, Brisbane, Queensland, Australia. Electronic address: thomas.moloney@health.qld.gov.au.
Thomas P
TP
Moloney
Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane.
Chirag
C
Patel
Department of Ophthalmology, Royal Children's Hospital, Brisbane, Queensland, Australia; Paediatrics and Child Health, School of Medicine, University of Queensland, Brisbane.
Glen A
GA
Gole
D000293:Adolescent; D000951:Antigens, Neoplasm / Q000235:genetics; D014408:Biomarkers, Tumor / Q000235:genetics; D018797:Cell Cycle Proteins; D017679:Cryotherapy; D003598:Cytoskeletal Proteins; D005122:Exudates and Transudates; D005260:Female; D006801:Humans; D017075:Laser Coagulation; D057130:Leber Congenital Amaurosis / Q000150:complications* / Q000235:genetics; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics; D015861:Retinal Neovascularization / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D058456:Retinal Telangiectasis / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D014792:Visual Acuity / Q000502:physiology; D014823:Vitreous Hemorrhage / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy
D000951:Antigens, Neoplasm; D014408:Biomarkers, Tumor; D018797:Cell Cycle Proteins; C493903:Cep290 protein, human; D003598:Cytoskeletal Proteins; D009363:Neoplasm Proteins