Coloboma Chorioretinal Cerebellar Vermis Aplasia

Overview

Type of disease: Rare conditions

Coloboma – Chorioretinal Cerebellar Vermis Aplasia refers to a rare neurological disorder that is characterized mainly by eye anomalies (specifically, an oddly shaped pupil and gaps in the choroid and retina), and abnormal development of a certain section of the brain (cerebellar vermis aplasia). Hence, individuals with this form of intellectual disability have severe eye problems and may show signs of intellectual disability. In addition, abnormal development of this ection of the brain can cause problems with coordination. Like other individuals with intellectual disability, an individual with this condition may have problems with reasoning and solving problems, as well as performing day-to-day tasks. The condition is often diagnosed during childhood. Doctors diagnose this neurological disorder if eye problems and a lack of coordination are observed. Signs like walking and talking late, slow mastering of basic tasks, and having difficulty remembering things may also suggest this condition in children. Treatment is developed on a case-by-case basis and depends on the specific needs of the patient. Doctors may suggest patients undergo surgery to fix eye problems. Doctors seek help from various therapists and community services to provide support and care for families affected by intellectual disability.

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