Dr.Manisha Mishra

Dr.Anita Misra, Prof.Sumita Mohapatra, Dr.Sonali Panda

Abstract

Alstrom syndrome is a rare autosomal recessive disorder caused by mutations in the ALMS1 gene on chromosome 2p13 with prevalence of 1 per million population. It affects multiple systems, including the eyes, ears, heart, liver, kidneys and endocrine glands.
This is a case report of a 12 year old male, presenting to ophthalmology OPD with systemic features of truncal obesity, bilateral sensorineural hearing loss, delayed developmental milestones, hypertriglyceridemia and medullary sponge kidney. Ocular examination revealed progressive vision loss, glare, horizontal nystagmus and cone-rod dystrophy on ERG. The patient was advised tinted visors, low vision aids and magnifiers. Counselling on visual prognosis, study in special school, mobility training, disability certification and importance of life long follow up was explained.
Early diagnosis, multidisciplinary approach and comprehensive management are crucial to address Alstrom syndrome.