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Exudative retinopathy in a girl with alström syndrome due to a novel mutation
  1. Devina Gogi1,
  2. Jackie Bond2,
  3. Vernon Long3,
  4. Eammon Sheridan4,
  5. C G Woods5
  1. 1Department of Ophthalmology, St James’s University Hospital, Leeds, UK
  2. 2Department of Ophthalmology & Neuroscience, Leeds Institute of Molecular Medicine, St James’s University Hospital, Leeds, UK
  3. 3Department of Ophthalmology, St James’s University Hospital, Leeds, UK
  4. 4Department of Clinical Genetics, St. James’s University Hospital, Leeds, UK
  5. 5Department of Medical Genetics, Cambridge Institute of Medical Research, Addenbrookes Hospital, Cambridge, UK
  1. Correspondence to: MrVernon Long Consultant Ophthalmologist, St. James’s University Hospital, Leeds. LS9 7TF, UK

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Coats disease is an uncommon telangiectatic retinal exudation that is most often seen in males. Similar changes are an uncommon but well known complication of retinitis pigmentosa, occurring in up to 3.6% of the affected individuals.1 This association has not been reported with Alström syndrome. Alström syndrome is a rare autosomal recessive disorder caused by mutations in a novel gene of unknown function, ALMS1,2 widely expressed in centrosomes and the base of cilia.3,4 We report an Asian girl with bilateral congenital cone-rod dystrophy due to Alström Syndrome who developed subretinal exudation resembling Coats disease.

Case report

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, …

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