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Advanced bilateral persistent fetal vasculature associated with a novel mutation in the Norrie gene
  1. S Dhingra1,
  2. D J Shears2,
  3. V Blake3,
  4. H Stewart4,
  5. C K Patel5
  1. 1Eye Department, Royal Berkshire Hospital, Reading RG1 5AN, UK
  2. 2Department of Clinical Genetics, Churchill Hospital, Old Road, Headington, Oxford OX3 7LJ, UK
  3. 3Merseyside and Cheshire Regional Molecular Genetics Laboratory, Liverpool Women’s Hospital NHS Trust, Crown Street, Liverpool L8 7SS, UK
  4. 4Department of Clinical Genetics, Churchill Hospital, Old Road, Headington, Oxford OX3 7LJ, UK
  5. 5Radcliffe Infirmary, Woodstock Road, Oxford OX2 6HE, UK
  1. Correspondence to: S Dhingra Eye Department, Royal Berkshire Hospital, Reading RG1 5AN, UK; drsumitdhingra{at}hotmail.com

https://doi.org/10.1136/bjo.2005.088625

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    Unilateral cases of persistent fetal vasculature (PFV) are sporadic,1 while bilateral cases may be associated with X linked Norrie disease.2 Associated sensorineural deafness and mental retardation in males3 may be absent,4 and genetic testing can be useful in separating sporadic PFV from Norrie disease as the following report illustrates.

    Case report

    A male proband (III:1, fig 1), the first child of healthy non-consanguineous white parents, was born by normal vaginal delivery, at term, following normal pregnancy and weighed 3.64 kg. Bilateral PFV was noted (fig 2) with a normal systemic examination including hearing test. During bilateral vitreo-lensectomy, severe retinal and optic nerve dysplasia was found. The four generation family history …

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