Case of autosomal dominant optic atrophy with relatively good visual function.

Area of Science:

• Ophthalmology
• Genetics
• Neuroscience

Background:

• Dominant optic atrophy (DOA) is an inherited optic neuropathy linked to OPA1 gene mutations.
• DOA typically causes gradual vision loss, often diagnosed early in life.
• Diagnosis can be difficult due to variable presentation and potential for mild impairments without visual field abnormalities.

Purpose of the Study:

• To report longitudinal findings in a patient with autosomal dominant DOA.
• To highlight the diagnostic challenges in cases with preserved visual function.
• To emphasize the role of genetic testing in DOA diagnosis.

Main Methods:

• Longitudinal case study of a 56-year-old male with suspected DOA.
• Ophthalmic examinations including visual acuity, intraocular pressure, slit-lamp, funduscopy, and visual field testing (Humphrey visual field analyzer).
• Optical coherence tomography (OCT) for retinal nerve fiber layer assessment and genetic testing (next-generation sequencing) for OPA1 gene variants.

Main Results:

• Initial presentation at age 49 with blurred vision, BCVA 1.0, and normal visual fields.
• After 5 years, BCVA decreased to 0.8 (OD) and 0.6 (OS), with reduced critical fusion frequency and OCT-confirmed RNFL thinning.
• Genetic testing identified a novel heterozygous OPA1 gene variant (c.2331+2T>G).
• At age 55, BCVA remained relatively good at 0.8 (OD) and 0.6 (OS).

Conclusions:

• Good visual function can be maintained into middle age in some DOA patients.
• Genetic testing for OPA1 mutations should be considered when circumpapillary RNFL thinning is observed.
• Early and accurate diagnosis of DOA is critical for management and genetic counseling.