Additional symptoms consisted of intractable constipation alternating with severe diarrhea since childhood, together with gait unsteadiness, paresthesias in the four extremities, cramps, and burning pain in the lower limbs since the age of 35. [karger.com]

We identified one novel WFS1 missense mutation E864K, c.2590G-- A in exon 8 that co-segregates with ADOA combined with hearing impairment and impaired glucose regulation. [ncbi.nlm.nih.gov]

Neither the maternal grandparents nor the uncle of the proband had hearing impairment. All affected individuals had no symptoms additional to progressive sensorineural hearing impairment and optic atrophy. [molvis.org]

In about 10–20% of ADOA cases a more severe ADOA “plus” phenotype (DOA ; OMIM: # 125250) with extra-ophthalmic manifestation e.g. sensorineural hearing impairment and neuromuscular symptoms has been reported [ 6 – 8 ]. [journals.plos.org]

Early loss of inferior temporal RNFL in ADOA is related to superotemporal central scotoma. [ncbi.nlm.nih.gov]

Humphrey visual field test shows cecocentral scotoma in right eye and central scotoma in left eye. [eyewiki.aao.org]

Goldmann visual field examination revealed bilateral central scotoma, and slit-lamp examination showed bilateral cerulean cataract. Electroretinography was normal and visual-evoked potentials showed bilateral optic nerve dysfunction. [karger.com]

Leber's hereditary optic neuropathy Dominant optic atrophy Optic neuropathy Color vision defect Tritan color vision defect Blue-yellow color vision defect Central scotoma Maternal inheritance Mitochondrial inheritance Mutation DNA Mitochondria. [journals.lww.com]

Visual acuity decreased with decreasing GC-IPL thickness (p 0.0006 in c.983A G and p 0.0084 in c.2708_2711delTTAG). [ncbi.nlm.nih.gov]

It is a childhood onset disorder typically characterized by a progressive loss in central vision, color vision deficits (dyschromatopsia), decreased visual acuity, decreased sensitivity of the central retinal field (paracentral scotomas), and asymmetric [egl-eurofins.com]

Her visual acuity decreased from age 10. Bilateral cataract was diagnosed at age 45, and she is currently legally blind. Patient IV.1, a female born in 1971, suffered a decrease in visual acuity from age 6. [jmg.bmj.com]

Early loss of inferior temporal RNFL in ADOA is related to superotemporal central scotoma. [ncbi.nlm.nih.gov]

Humphrey visual field test shows cecocentral scotoma in right eye and central scotoma in left eye. [eyewiki.aao.org]

Goldmann visual field examination revealed bilateral central scotoma, and slit-lamp examination showed bilateral cerulean cataract. Electroretinography was normal and visual-evoked potentials showed bilateral optic nerve dysfunction. [karger.com]

Leber's hereditary optic neuropathy Dominant optic atrophy Optic neuropathy Color vision defect Tritan color vision defect Blue-yellow color vision defect Central scotoma Maternal inheritance Mitochondrial inheritance Mutation DNA Mitochondria. [journals.lww.com]