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Findings that shed new light on the possible pathogenesis of a disease or an adverse effect
CASE REPORT
Intermediate uveitis in a child with phosphatase and tensin homolog gene mutation and Bannayan-Riley-Ruvalcaba syndrome
  1. Daphna Prat1,2,
  2. Iris Ben Bassat Mizrachi1,2 and
  3. Vicktoria Vishnevskia-Dai1,2
  1. 1 The Goldschleger eye institute , Department of Ophthalmology, Sheba Medical Center, Tel Hashomer, Israel
  2. 2 Sackler school of medicine, Tel Aviv university, Tel Aviv, Israel
  1. Correspondence to Dr Vicktoria Vishnevskia-Dai, vivida65{at}gmail.com

Abstract

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a congenital disorder characterised by macrocephaly, multiple hamartomas, lipomas, and pigmented macules of the glans penis. Intermediate uveitis is characterised by chronic inflammatory cells aggregates on the pars plana (snowbanks) and within the vitreous cavity (snowballs). We describe what we believe to be the first case of intermediate uveitis associated with BRRS. Early examination under anaesthesia should be considered in the management of young children diagnosed with this syndrome in order to provide appropriate ocular evaluation, treatment and follow-up. Further research is needed to establish a better understanding of the ophthalmic manifestations of this syndrome.

  • ophthalmology
  • neurology
  • neuro genetics

https://doi.org/10.1136/bcr-2017-224079

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    Footnotes

    • Patient consent for publication Parental/guardian consent obtained.

    • Contributors The manuscript has not been previously published in whole or in part and is not submitted elsewhere for review. All three authors have made substantial contributions to this manuscript. DP contributed in reporting, conception and design, acquisition of data, analysis and interpretation of data. VV-D contributed in planning, conduct, reporting, conception and design, acquisition of data, analysis and interpretation of data. IBBM contributed in conduct, reporting, conception and interpretation of data.No author as financial disclosures to state.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.