Autozomálně recesivní
Caused by changes in both copies of FDXR, which encodes ferredoxin reductase, an enzyme needed to make iron-sulfur clusters and heme in mitochondria. Each parent usually carries one changed copy.
Příznaky a projevy
Optic atrophy with progressive vision loss and auditory neuropathy, a type of hearing loss, usually begin in childhood. Movement disorder, developmental delay and low muscle tone are also reported. Developmental delay or regression is also reported.
Co se diagnózou změní
Regular eye, hearing and neurological assessment, with vision aids and hearing support. Genetic counselling and carrier testing of relatives clarify recurrence risk.
Analyzované geny
Zahrnuje 3 příbuzných podtypů ↓Skrýt podtypy ↑
- auditory neuropathy-optic atrophy syndrome
- multiple mitochondrial dysfunctions syndrome 9b
- optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
MONDO:1060116Zdroje: [1][2]
