BabyScreen+ newborn screening

Gene: OPA1

Red List (low evidence)

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)MIM# 616896; Behr syndrome MIM#210000, AR; Optic atrophy 1, MIM#165500; Optic atrophy plus syndrome, MIM# 125250

Red List (low evidence)

Gene-disease association: strong. Autosomal dominant optic atrophy is characterized by an insidious onset of visual impairment in early childhood with moderate to severe loss of visual acuity, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density

Severity: moderate to severe

Age of onset: early childhood

Non-molecular confirmatory testing: no

Treatment: symptomatic only therefore exclude

Created: 6 Oct 2022, 2:47 a.m. | Last Modified: 6 Oct 2022, 2:47 a.m.

Panel Version: 0.442

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Optic atrophy 1