A TRAIL OF CASE OF TRABOULSI SYNDROME

To report a 4 years follow-up of a patient with a rare congenital ophthalmological disorder known as Traboulsi syndrome. It is characterized by ectopia lentis, congenital blebs, and facial dysmorphism. A 28-year-old female was identified with Traboulsi syndrome based on the typical facial, ocular features, and evidence from literature. This case report discusses the clinical aspects of the syndrome such as its long-term sequelae, complications, and management outcomes.

Dr Rajendra Prasad Centre for Ophthalmic Sciences

AIIMS

New Delhi

A 28-year-old women presented to us 4 years back with complaints of defective vision in both eyes since her childhood which they first noticed in 2011 (presented outside).  On presentation to RPC, AIIMS, NEW DELHI in 2019 she was Diagnosed with Traboulsi syndrome. She was the 4^th  child of non-consanguineous parents. Her 4 siblings were unaffected by the disease.  

Patient gives history of DOV and whitish opacity in both eyes since 2013--> 1st presented to RPC in 2019--> Diagnosed with BE uveitis with BSK (RE EDTA chelation done in 2019)-->  LE scleral patch graft in July, 2021 (Pre-op VA RE-6/60 LE-6/60; Post-op VA RE- 6/60 LE-1/60)-->RE scleral patch graft in November, 2021 (Pre-op VA RE-1/60 LE-1/60; Post-op VA RE-FC at 1/2m LE-1/60)

Our ability to recognise and diagnose the disease in our patient was guided by the typical clinical and visual symptoms of Traboulsi syndrome in the earlier published publications on this syndrome. Despite our failure to successfully visually rehabilitate the patient right away, she had an ambulatory best corrected visual acuity(BCVA) after receiving an scleral fixated IOL(SFIOL) and scleral patch graft. One of the rare Traboulsi syndrome case reports that has included both the clinical aspects and long-term effects.