Autosomal dominant chorioretinopathy-microcephaly syndrome

Autosomal dominant chorioretinopathy-microcephaly syndrome, also known as chorioretinal dysplasia-microcephaly-mental retardation syndrome or CDMMR, is an extremely rare genetic disorder characterized by the combination of chorioretinal dystrophy (abnormal development and degeneration of the choroid and retina of the eye) and microcephaly (an abnormally small head circumference reflecting reduced brain size). The condition primarily affects the eyes and the central nervous system. Key clinical features include progressive visual impairment due to chorioretinal changes, microcephaly present from birth or early infancy, and intellectual disability of variable severity. Additional features that have been reported in some affected individuals include short stature and lymphedema (swelling due to impaired lymphatic drainage). The eye findings may include chorioretinal lacunae, retinal dystrophy, and reduced visual acuity that can progress over time. This syndrome follows an autosomal dominant inheritance pattern, meaning that a single copy of the altered gene is sufficient to cause the condition. Only a very small number of families have been described in the medical literature. There is currently no specific cure or targeted treatment for this condition. Management is supportive and symptomatic, focusing on ophthalmologic monitoring and intervention, developmental support and special education services for intellectual disability, and management of any associated features such as lymphedema. Regular follow-up with ophthalmology and neurology specialists is recommended.

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