<unk>  is a neuro-ophthalmological genetic disorder; specifically, it is an autosomal recessive disorder caused by a mutation in the OPA3 gene, which carries instructions for synthesis of its gene product, the OPA3 protein. The exact function of the product protein is unknown, though it is known to play an integral role in mitochondrial function. The disorder can be caused by several different mutations in the OPA3 gene. However, nearly all reported cases of<unk>  has been in individuals of Iraqi Jewish origin, all of whom share the same splice site founder mutation. In particular, this founder mutation is a G-to-C mutation of a single nucleotide (see single-nucleotide polymorphism) which interferes with gene expression levels of OPA3. Though the mutation is the same within this population, the severity of symptoms varies with the individual. To date, there have only been two reported cases of<unk>  not due to the founder mutation, each of which was due to a different pathogenic variants (mutation). Two other OPA3 mutations have also been reported which result in a rare dominant genetic disorder with symptoms similar to<unk> .
Costeff syndrome
Bangstad syndrome
Ross' syndrome
Melnick–Needles syndrome
Feingold syndrome
Young–Simpson syndrome
Raymond–Céstan syndrome
Jeavons syndrome