Exudative retinopathy in a girl with alstrom syndrome due to a novel mutation
- 18 June 2007
- journal article
- Published by BMJ in British Journal of Ophthalmology
- Vol. 91 (7) , 983-984
- https://doi.org/10.1136/bjo.2005.088781
Abstract
A twelve year old girl of ethnic Pakistani origin presented with marked deterioration of vision in her right eye over the previous year. She had attended our institution with cone-rod retinal dystrophy (ERG demonstrated absent photopic response & markedly reduced rod response), infantile-onset obesity, cardiomyopathy, sensorineural deafness, …Keywords
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