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Clin Dysmorphol. 2019 Oct;28(4):184-189. doi: 10.1097/MCD.0000000000000287.

Traboulsi syndrome due to ASPH mutation: an under-recognised cause of ectopia lentis.

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School of Medical Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Oxford Road.
Department of Paediatric Ophthalmology, Manchester Royal Eye Hospital.
Department of Clinical and Academic Ophthalmology, Great Ormond St Hospital, London.
Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester.
Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester.


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.

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