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Traboulsi syndrome due to ASPH mutation: an under-recognised cause of ectopia lentis
Nainesha Kulkarni1, Ian C Lloyd2,3, Jane Ashworth2
1School of Medical Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Oxford Road.
Abstract:
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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