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X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients
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  1. D Pimenides1,2,
  2. N D L George3,
  3. J R W Yates1,
  4. K Bradshaw2,
  5. S A Roberts4,
  6. A T Moore5,
  7. D Trump1,6
  1. 1Department of Medical Genetics, University of Cambridge and Addenbrooke’s NHS Hospital Trust, Cambridge, UK
  2. 2Department of Ophthalmology, Addenbrooke’s NHS Hospital Trust, Cambridge, UK
  3. 3Department of Ophthalmology, Ninewells Hospital, Dundee, UK
  4. 4Biostatistics Group, Division of Epidemiology and Health Sciences, Faculty of Medical and Health Sciences, University of Manchester, UK
  5. 5Institute of Ophthalmology and Moorfields Eye Hospital, London, UK
  6. 6Academic Unit of Medical Genetics, St Mary’s Hospital and Centre for Molecular Medicine, Faculty of Medical and Health Sciences, University of Manchester, UK
  1. Correspondence to:
 Professor D Trump
 Academic Unit of Medical Genetics, St Mary’s Hospital, Hathersage Rd, Manchester M13 0JH, UK; dorothy.trumpman.ac.uk

Abstract

Background: Inactivating mutations of the gene RS1 lead to X-linked retinoschisis, a progressive retinal dystrophy characterised by schisis within the inner layers of the neuroretina. The mutation spectrum is large and the phenotype variable.

Aim: To determine whether there is a correlation between mutation type and disease severity.

Methods: We identified the causative mutation in 86 affected patients and examined each of these patients in detail. Different categories of mutation were compared for each phenotypic characteristic.

Results: We found a reduction in visual acuity with increasing age and worsening macular pathology in patients over 30 years old (p⩽0.001), but there was no correlation between mutation type and severity of disease. Furthermore, we found a wide variation in phenotype even within families.

Conclusions: Identifying the causative mutation in patients with X-linked retinoschisis is helpful in confirming diagnosis and in counselling of family members but cannot be used to predict prognosis for an individual patient.

  • DVA, distant visual acuity
  • FERG, full field electroretinogram
  • NVA, near visual acuity
  • XLRS, X-linked juvenile retinoschisis
  • genotype
  • phenotype
  • retinoschisin
  • retinoschisis

https://doi.org/10.1136/jmg.2004.029769

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    Footnotes

    • We are indebted to Janice and John Pownall and Perkin-Elmer for charitable support. The study benefited from funding from the Medical Research Council, the Wellcome Trust, and the Guide Dogs for the Blind Association. DP was a Wellcome Trust Ophthalmology Training Fellow and NDLG was supported by the Guide Dogs for the Blind Association.

    • Competing interests: none declared