- OPA1 p.Leu1004Pro causes consistent structural optic neuropathy with temporal disc pallor, selective temporal RNFL thinning, and macular GCC loss, outer retina preserved.
- Marked intrafamilial functional variability: BCVA 0.22 to 0.82 logMAR; central, centrocecal or paracentral field defects with relative peripheral sparing.
- Exploratory SS-OCTA showed intercase parafoveal superficial capillary plexus density variation without frank macular nonperfusion; interpretation limited by absent device and age-matched controls.
J Curr Ophthalmol. 2026 Aug 6;38(1):79-86. doi: 10.4103/joco.joco_4_26. eCollection 2026 Jan-Mar.
ABSTRACT
PURPOSE: To characterize the structural, functional, and optical coherence tomography angigraphy (OCTA) phenotype associated with the OPA1 c3011T>C (p.Leu1004Pro) variant in a multigenerational family with autosomal dominant optic atrophy.
METHODS: In this retrospective familial case series, four affected female relatives across three generations underwent ophthalmic examination including best-corrected visual acuity (BCVA), peripapillary retinal nerve fiber layer (RNFL) and macular ganglion cell complex (GCC) imaging, Humphrey 24-2 visual fields, and 6 mm × 6 mm swept-source OCTA (SS-OCTA). Quantitative OCTA assessed parafoveal vessel density in the superficial capillary plexus (SCP). Next-generation sequencing in the index case and intrafamilial Sanger sequencing confirmed segregation.
RESULTS: All subjects carried the heterozygous OPA1 c.3011T>C variant and showed a consistent optic neuropathy pattern with temporal disc pallor, selective temporal RNFL thinning, and macular GCC loss on a preserved outer retina without microcystic changes. BCVA ranged from 0.22 to 0.82 logMAR, indicating marked intrafamilial functional variability. Visual fields demonstrated central/centrocecal or paracentral defects with relative peripheral sparing, with more extensive central depression in the oldest case. On exploratory 6 mm × 6 mm SS-OCTA, parafoveal SCP vessel density values showed intercase variation without frank macular nonperfusion; findings are interpreted descriptively in the absence of device and age-matched internal controls.
CONCLUSION: The OPA1 p.Leu1004Pro variant was associated with a stereotyped structural optic neuropathy pattern, whereas functional impairment showed marked intrafamilial variability. Exploratory SCP OCTA findings are descriptive only, given the absence of device and age-matched internal controls.
PMID:42667059 | PMC:PMC13524400 | DOI:10.4103/joco.joco_4_26
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