Exudative vasculopathy in a child with Leber congenital amaurosis

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• 作者：Thomas P. Moloney ; BSc ; MBBS^a ; ^{thomas.moloney@health.qld.gov.au" class="auth_mail} ; Chirag Patel ; MD^b ; Glen A. Gole ; MD ; FRANZCO^a ; ^c
• 刊名：Journal of American Association for Pediatric Ophthalmology and Strabismus
• 出版年：June 2014
• 年：2014
• 卷：18
• 期：3
• 页码：297-299
• 全文大小：323 K

文摘

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.