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dc.contributor.authorSnead, M P
dc.contributor.authorRichards, A J
dc.contributor.authorMcNinch, A M
dc.contributor.authorAlexander, P
dc.contributor.authorMartin, H
dc.contributor.authorNixon, T R W
dc.contributor.authorBale, P
dc.contributor.authorShenker, N
dc.contributor.authorBrown, S
dc.contributor.authorBlackwell, A M
dc.contributor.authorPoulson, A V
dc.date.accessioned2021-11-07T01:47:49Z
dc.date.available2021-11-07T01:47:49Z
dc.date.issued2021-10-05
dc.identifier.citationEye (London, England)
dc.identifier.issn0950-222X
dc.identifier.otherPMC8491173
dc.identifier.other34611315
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/330413
dc.description.abstractIn 2011 NHS England commissioned a new national specialist MDT service for patients and families affected by Stickler syndrome. The Stickler syndromes form part of the spectrum of inherited vitreoretinopathies and are the most common cause of retinal detachment in childhood and the most common cause of familial retinal detachment. Now in its 10th year, the Stickler Highly Specialised Service (HSS) has assessed 1673 patients from 785 families. Using a combination of accurate phenotyping and molecular genetic analysis it is possible to identify the underlying genetic mutation in over 95% of cases including those with deep intronic mutations likely to be missed by conventional exome panel analysis and which require whole gene sequencing and supplementary functional analysis to confirm pathogenicity. The vast majority that presents to ophthalmologists will be from one of three autosomal dominant sub-groups with a high associated risk of retinal detachment but the diagnosis is often overlooked, especially in adults. In contrast to many other blinding retinal conditions, blindness through giant retinal tear detachment particularly in children is largely preventable provided these high-risk groups are identified and appropriate evidence-based prophylaxis offered. This article summarises ten selected briefcase histories from the national dataset with key learning points from each.
dc.languageeng
dc.rightsAttribution 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.sourceessn: 1476-5454
dc.sourcenlmid: 8703986
dc.titleStickler syndrome - lessons from a national cohort.
dc.typeArticle
dc.date.updated2021-11-07T01:47:49Z
dc.identifier.doi10.17863/CAM.77856
rioxxterms.versionofrecord10.1038/s41433-021-01776-8
rioxxterms.versionVoR
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0/
dc.contributor.orcidSnead, M P [0000-0003-0042-8659]


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Attribution 4.0 International
Except where otherwise noted, this item's licence is described as Attribution 4.0 International