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Legg-Calve-Perthes’ disease: an opportunity to prevent blindness?
  1. Aijing Wang1,2,
  2. Thomas Nixon2,
  3. Howard Martin1,2,
  4. Allan Richards1,2,
  5. Annie McNinch1,2,
  6. Philip Alexander1,
  7. Rathin Pujari1,
  8. Peter Bale3,
  9. Nicholas Shenker3,
  10. Philip Bearcroft4,
  11. Senjah Brown1,
  12. Adrian Blackwell1,
  13. Arabella Poulson1,
  14. Martin Snead1,2
  1. 1NHS England Highly Specialised Stickler Syndrome Diagnostic Service, Addenbrooke's Hospital, Cambridge, UK
  2. 2Vitreoretinal Research Group, John van Geest Centre for Brain Repair, University of Cambridge, Cambridge, UK
  3. 3Department of Rheumatology, Cambridge University NHS Foundation Trust, Addenbrooke's Hospital, Cambridge, UK
  4. 4Department of Radiology, Addenbrooke's Hospital, Cambridge, Cambridgeshire, UK
  1. Correspondence to Martin Snead, NHS England Highly Specialised Stickler Syndrome Diagnostic Service, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK; mps34{at}


Legg-Calve-Perthes’ disease (LCP) is defined as avascular necrosis of the femoral head in a child and may present to a variety of disciplines from general practice to orthopaedics, paediatrics, rheumatology and more. The Stickler syndromes are a group of disorders of type II, IX and XI collagen associated with hip dysplasia, retinal detachment, deafness and cleft palate. The pathogenesis of LCP disease remains an enigma but there have been a small number of cases reporting variants in the gene encoding the α1 chain of type II collagen (COL2A1). Variants in COL2A1 are known to cause type 1 Stickler syndrome (MIM 108300, 609508), which is a connective tissue disorder with a very high risk of childhood blindness, and it is also associated with dysplastic development of the femoral head. It is unclear whether COL2A1 variants make a definitive contribution to both disorders, or whether the two are indistinguishable using current clinical diagnostic techniques. In this paper, we compare the two conditions and present a case series of 19 patients with genetically confirmed type 1 Stickler syndrome presenting with a historic diagnosis of LCP. In contrast to isolated LCP, children with type 1 Stickler syndrome have a very high risk of blindness from giant retinal tear detachment, but this is now largely preventable if a timely diagnosis is made. This paper highlights the potential for avoidable blindness in children presenting to clinicians with features suggestive of LCP disease but with underlying Stickler syndrome and proposes a simple scoring system to assist clinicians.

  • Ophthalmology
  • Paediatrics
  • Genetics

Data availability statement

All data relevant to the study are included in the article or uploaded as supplementary information.

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Data availability statement

All data relevant to the study are included in the article or uploaded as supplementary information.

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  • Contributors AW: writing original draft, review and editing. TN: data curation, review and editing. HM: lab analysis. AR: lab analysis. AMcN: data curation. PA: data curation. RP: data curation. PBa: writing, review and editing. NS: writing, review and editing. PBe: writing, review and editing. SB: project administration. AB: project administration. AP: data curation. MS: conceptualisation, data curation, formal analysis, writing, review and editing.

  • 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.

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