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Autosomal recessive optic atrophy, OPA7 type
What is Autosomal recessive optic atrophy, OPA7 type?
A rare, syndromic, hereditary optic neuropathy disorder characterized by early-onset, severe, progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (e.g. mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and, occasionally, moderate hypertrophic cardiomyopathy.
Inheritance type
Autosomal recessive
Prevalence
Worldwide: <1 in 1,000 000
Age of Onset
Childhood
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on
"https://www.orphadata.com"
. Data version 1.3.16 / 4.1.7.