Autozomálně dominantní
Usually caused by a change in one copy of the OPA1 gene, which maintains the inner membrane of mitochondria; this form is known as dominant optic atrophy. Rarely, changes in both copies cause the condition.
Příznaky a projevy
Slowly progressive, symmetrical loss of central vision starting in childhood, with reduced colour vision and pale optic discs. Severity varies widely, even within a family, and some carriers have no symptoms. Less often there is hearing loss, and some families have wider problems affecting other body systems.
Co se diagnózou změní
Regular eye and hearing assessment, with low-vision aids for decreased vision. Each child of a person with the dominant form has a 1 in 2 chance of inheriting the change, so genetic counselling and family testing can be offered.
Analyzované geny
Zahrnuje 1 příbuzný podtyp ↓Skrýt podtypy ↑
- Behr syndrome
