Autoszomális recesszív
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.
Tünetek és jelek
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.
Mit változtat a diagnózis
Regular eye, hearing and neurological assessment, with vision aids and hearing support. Genetic counselling and carrier testing of relatives clarify recurrence risk.
Vizsgált gének
3 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- auditory neuropathy-optic atrophy syndrome
- multiple mitochondrial dysfunctions syndrome 9b
- optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
MONDO:1060116Források: [1][2]
