PURPOSE: To investigate retinal trunk vessel diameters in subjects with autosomal dominant optic atrophy (ADOA) and mutation-free healthy relatives.

METHODS: This cross-sectional study included 52 ADOA patients with the optic atrophy 1 (OPA1) exon 28 (c.2826_2836delinsGGATGCTCCA) mutation (age 8.6-83.5 years) (best-corrected visual acuity (BCVA) 8-94 Early Treatment Diabetic Retinopathy Study (ETDRS) letters) and 55 mutation-free first-degree healthy relatives (age 8.9-68.7 years, BCVA 80-99). Analysis of fundus photographs provided integrated magnification-corrected measures of retinal vessel diameters (central retinal artery equivalent, CRAE, and central retinal vein equivalent, CRVE). Statistical analysis was corrected for age, gender, spherical equivalent refraction, axial length and mean arterial blood pressure (MABP) in a mixed model analysis.

RESULTS: Retinal arteries and veins were thinner in ADOA than in healthy controls (CRAE (mean ± 2 standard deviations (SD)) 153.9 ± 41.0 μm and CRVE 236.1 ± 42.0 μm in ADOA, CRAE 172.5 ± 25.0 μm (p = 0.0004) and CRVE 254.2 ± 37.6 μm (p = 0.0019) in healthy controls). MABP was comparable in the two groups (p = 0.18), and in both groups, CRAE decreased with increasing MABP (p = 0.01 and p < 0.0001, respectively). In ADOA, CRAE and CRVE decreased with age (p = 0.011 and p = 0.020, respectively) and CRAE decreased with decreasing BCVA (p = 0.011). In patients with ADOA and in healthy controls, CRAE decreased with decreasing average macular ganglion cell-inner plexiform layer (GC-IPL) thickness (p = 0.0017 and p = 0.0057, respectively).

CONCLUSION: Narrow retinal arteries and veins were associated not only with the severity of ADOA but with ganglion cell volume in patients with ADOA and in healthy subjects. This suggests that narrow vessels are a consequence rather than the cause of inner retinal hypoplasia or atrophy, although longitudinal studies are needed to confirm this hypothesis.