/choroideremia-deafness-obesity syndrome

choroideremia-deafness-obesity syndrome

Rare Disease

MONDO:0010558

Also Known As

Ayazi syndromeXq21 deletion syndrome, X-linked recessivechoroideremia deafness obesitychoroideremia, deafness, and intellectual disabilitychoroideremia, deafness, and mental retardationchoroideremia, obesity, and congenital deafnesschromosome Xq21 deletion 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.