Retinal microcystoid lacunae in autosomal dominant optic atrophy: relation to visual function

Abstract

Purpose : To assess the prevalence of microcystoid lacunae in patients with autosomal dominant optic atrophy (ADOA) and their relation to visual function and retinal thickness.

Methods : The study included 159 participants with verified ADOA, with a mean age of 44.35 (SD 19.9, range 7-86) years. Study participants with mutation in the OPA1 gene were assessed for best-corrected visual acuity (BCVA, in ETDRS letters), contrast sensitivity (in logCS), optical coherence tomography (Spectralis, Heidelberg) and adaptive optics fundus photography (RTX-1, Imagine Eyes). Data were analyzed with a mixed model adjusted for age and sex with family and eye as random effects using RStudio statistical software. Optically empty microcystoid spaces in the ganglion cell layer and inner plexiform layer, presumably lacunae left by degenerated ganglion cells, were mapped by inspection of the two sets of images.

Results : 34 patients (21 %) including 19 males and 15 females had microcystoid lacunae, and 125 including 64 males and 61 females did not have microcystoid lacunae. The genotype distribution of the patients with microcystoid lacunae was 16 with c.2826_2836delinsGGATGCTCCA, 4 with c.983A>G, 4 with 2496+4_2496+5delinsGTAAC, 4 with 2614-9A>, 2 with c.1516+5G>A, 2 with c.2708_2711delTTAG, 1 with c.(32+1_33-1)_(678+1_679-1)delG and 1 with c.2707+1G>C.
Patients with and without microcystoid lacunae had a BCVA of 66.2 and 70.0 ETDRS letters (difference -3.82, 95%CI -11.6;4.0, P=0.6), a contrast sensitivity of 1.555 and 1.561 logCS (difference -0.006 (95%CI -0.11;0.10, P=0.9), a nerve fiber layer volume of 0.53 and 0.58 mm³ (difference -0.05, 95%CI -0.10;-0.002, P=0.04) and a ganglion cell layer volume of 0.75 and 0.78 mm³ (difference -0.03 ,95%CI -0.09;0.02, P=0.3), respectively.
Statistical analysis showed moderately reduced visual acuity in patients with microcystoid lacunae. Normal and near-normal visual function was seen only in participants without microcystoid lacunae, who nevertheless were found at all levels of visual function, including severely decreased visual function.

Conclusions : In ADOA, microcystoid lacunae was found in 21% of the study participants, and tended to be found in patients with moderate visual acuity reduction, suggesting that cavities left by dead ganglion cells disappear with decreasing visual function.

This is a 2021 ARVO Annual Meeting abstract.