What question did this study set out to answer?

To assess and describe the ophthalmic findings and potential genetic relationships in a family with neuropathy, ataxia, and retinitis pigmentosa.

Progressive Retinal and Neurologic Findings in a Family With Neuropathy, Ataxia, and Retinitis Pigmentosa Syndrome

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Longitudinal trial reveals variability in neuropathy and retinitis pigmentosa among family members, indicating complex genetics.

To assess and describe the ophthalmic findings and potential genetic relationships in a family with neuropathy, ataxia, and retinitis pigmentosa.
Followed a mother, daughter, and son with m.8993T>G MT-ATP6 variant for 5 years.
Conducted comprehensive ophthalmic assessments including visual acuity, OCT, and electroretinography.
Measured heteroplasmy levels at baseline to explore potential correlations.
Patient 1 showed extensive ellipsoid zone loss and rod-cone dysfunction.
Patient 2 had retinal thinning with cone-dominant dysfunction.
Patient 3 presented with normal retinal structure initially, showing subtle changes and mild functional loss.

Naveed et al. (2026) studied this question.

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