Probable autosomal dominant optic atrophy with hearing loss.

Area of Science:

• Genetics
• Ophthalmology
• Audiology

Background:

• Autosomal dominant optic atrophy (ADOA) is a group of inherited optic neuropathies.
• Hearing loss can occur in some forms of ADOA, but is not a universal feature.
• Phenotypic variability is common in genetic disorders.

Purpose of the Study:

• To report a novel family with autosomal dominant optic atrophy and hearing loss.
• To characterize the clinical features and inheritance pattern of this specific disorder.
• To investigate potential differences compared to ADOA without hearing loss.

Main Methods:

• Clinical examination of affected individuals across multiple generations.
• Audiological and ophthalmological assessments, including visual acuity, visual fields, and color vision testing.
• Family history collection to determine inheritance patterns.

Main Results:

• The seventh family with autosomal dominant optic atrophy and hearing loss is described.
• Significant inter- and intrafamilial variability in the onset and severity of vision and hearing impairment was observed.
• A distinct association with red-green (deutan) color vision defects was noted, differentiating it from ADOA without hearing loss.

Conclusions:

• This family expands the known spectrum of autosomal dominant optic atrophy disorders.
• The presence of hearing loss and deutan defects may indicate a specific genotype-phenotype correlation.
• Further research is warranted to elucidate the genetic basis and underlying mechanisms.