TY - JOUR
T1 - Traboulsi syndrome due to ASPH mutation
T2 - an under-recognised cause of ectopia lentis
AU - NIHR BioResource Consortium
AU - Kulkarni, Nainesha
AU - Lloyd, Ian C.
AU - Ashworth, Jane
AU - Biswas, Susmito
AU - Black, Graeme C.M.
AU - Clayton-Smith, Jill
PY - 2019/10/1
Y1 - 2019/10/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85071784404&partnerID=8YFLogxK
U2 - 10.1097/MCD.0000000000000287
DO - 10.1097/MCD.0000000000000287
M3 - Article
C2 - 31274573
AN - SCOPUS:85071784404
SN - 0962-8827
VL - 28
SP - 184
EP - 189
JO - Clinical dysmorphology
JF - Clinical dysmorphology
IS - 4
ER -