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Traboulsi syndrome due to ASPH mutation

an under-recognised cause of ectopia lentis

Kulkarni, Naineshaa; Lloyd, Ian C.b,,e; Ashworth, Janeb; Biswas, Susmitob; Black, Graeme C.M.c,,d; Clayton-Smith, Jillb,,c NIHR BioResource Consortium

doi: 10.1097/MCD.0000000000000287
Original Articles
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Traboulsi syndrome is an extremely rare ophthalmological disorder characterised by facial dysmorphism, lens dislocation, anterior segment abnormalities and spontaneous filtering blebs. It is caused by pathogenic variants in the ASPH gene. To date, only 13 individuals with Traboulsi syndrome from three families have been reported in the literature. We report the first UK family with Traboulsi syndrome associated with two novel ASPH variants. This condition, which has some phenotypic overlap with both Marfan syndrome and homocystinuria, is most likely under ascertained, and we further delineate the clinical features to aid its recognition.

aSchool of Medical Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Oxford Road

bDepartment of Paediatric Ophthalmology, Manchester Royal Eye Hospital

cManchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester

dDivision of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester

eDepartment of Clinical and Academic Ophthalmology, Great Ormond St Hospital, London

fNIHR BioResource Consortium, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, UK

Received 4 April 2019 Accepted 16 May 2019

Correspondence to Nainesha Kulkarni, The University of Manchester, Oxford Road, Manchester, M13 9PL, UK, e-mail: nainesha.kulkarni@outlook.com

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