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A novel mutation in the RDS gene in an Italian family with pattern dystrophy
  1. F Testa1,
  2. V Marini1,2,
  3. S Rossi1,
  4. E Interlandi1,
  5. A Nesti1,
  6. M Rinaldi1,
  7. M Varano1,3,
  8. C Garré1,2,
  9. F Simonelli1
  1. 1Department of Ophthalmology, Seconda Università di Napoli, Via Pansini 5, 80131 Napoli, Italy
  2. 2Department of Oncology, Biology and Genetics, University of Genova, Largo Rosanna Benzi, 10, 16132 Genova, Italy
  3. 3G B Bietti Foundation for the Study and Research in Ophthalmology, Via Livenza 3 00198 Roma, Italy
  1. Correspondence to: Francesca Simonelli P.zza Leonardo, 14, 80129 Napoli, Italy; franctestin.it

https://doi.org/10.1136/bjo.2004.064188

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    The term “pattern dystrophy” (PD) of the retina refers to a group of inherited dystrophies characterised by deposition of abnormal pigment at the level of retinal pigment epithelium (RPE).1

    Several studies have correlated PD with mutations in the RDS gene.2–7 Therefore, mutations in the same RDS gene have been reported to be associated with other retinal diseases.3,4

    Here we report the clinical features of an Italian family (fig 1) affected by autosomal dominant PD associated with a new mutation in the RDS gene.

    Figure 1

     Pedigree of family with autosomal dominant pattern dystrophy. Square: male; circle: female; solid symbol: affected; open symbol: unaffected.

    Case reports

    The proband I-1 is a 76 year old man who referred with progressive reduction of visual acuity at approximately 50 years of age; he showed an uncorrected visual acuity of 20/400 in the right eye and 20/100 in the left eye in lateral gaze position. Examination of the retina showed pink optic nerve heads, normal retinal vessels, …

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    Footnotes

    • Competing interests: none declared