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Home > West Medicine > ENT & Ophthalmology > Ophthalmology
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Choroideremia

眼科

Common symptoms

绿色盲、色素斑、紧脉、色素脱失、夜盲、色觉异常、视力视野改变、眼底改变

The pathology of disease

Choroideremia is an X-linked progressive degeneration of the choroid, retinal pigment epithelium, and photoreceptors, presenting in males with night blindness in youth and progressive visual-field loss. Treatment: no established cure; low-vision aids; gene therapy is emerging. Genetic counseling.

Common Symptoms

Night blindness; progressive field loss; male; X-linked inheritance; pale fundus/atrophy

Causes and Pathogenesis

REP-1 gene mutation causes progressive atrophy of choroid/RPE/photoreceptors.

Treatment

Low-vision aids; gene therapy emerging; genetic counseling

Preventive Measures

Genetic counseling; low-vision rehab.

Department to Visit

It is recommended to visit the Ophthalmology department; an appointment can be booked on this platform before the visit.

Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.