Choroideremia-deafness-obesity syndrome
Choroideremia-deafness-obesity syndrome
Definition
Choroideremia-deafness-obesity syndrome is an X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state.
Also known as Ayazi syndrome, Xq21 deletion syndrome, X-linked recessive — per MONDO