Alstrom Syndrome

A 5-year-old male referred to the BPEI pediatric ophthalmology clinic for second opinion regarding bilateral progressive vision loss since infancy. VA was 20/200 OU and the patient had nystagmus. He was 99% percentile for weight but had no hearing loss or polydactyl. He underwent sedated ERG and was found to have >50% reduction in rod function and flat cone response. Genetic testing for Alstrom syndrome was positive and mutation ALMS1 was identified. The patient has been followed at BPEI for the past 6 years with a course of progressive visual decline and development of small-angle sensory XT. He has no signs of cardiac involvement or sensorineural hearing loss at this time. 

Presentation Date: 11/14/2019

Issue Date: 08/01/2020