Coloboma Porencephaly Hydronephrosis

Overview

Type of disease: Rare conditions

Coloboma Porencephaly Hydronephrosis refers to a rare eye disorder that is characterized by a defect in the visual system, kidney problems and abnormalities in the brain. Individuals with this disorder have severe handicaps and vision problems, specifically physical and mental impairment and being unable to process what they see. The severity of the disorder depends on the size of the defects in the eye and brain. Vision problems can affect an individual significantly, inhibiting their ability to perform day-to-day tasks. Brain abnormalities can lead to an inability to perform the most basic tasks, and even paralysis. The condition is often diagnosed during childhood, since individuals are born with the condition. Eye specialists often diagnose this condition after detecting a defect in the visual system from eye examinations or brain scans. Treatment is developed on a case-by-case basis and depends on the specific needs of the patient. Therapists and specialists work with families to determine management plans best suited for each affected person to help they overcome handicaps caused by this condition.

Connect. Empower. Inspire.