Microcystic macular degeneration in autosomal hereditary optic neuropathies: A cross-sectional retrospective study

Patients with autosomal optic neuropathies (AON) may develop microcystic macular degeneration (MMD), observed on retinal optical coherence tomography (OCT) examination. This study aimed to report the prevalence of MMD in AON patients and to assess the consequences of MMD on retinal architecture.

Retrospective single-center study conducted between 2001 and 2018. Patients affected by AON secondary to OPA1 or WFS1 gene mutations were included. The following data were collected: visual acuity, macular volume, vitreomacular interface and presence or absence of MMD.

Forty-two subjects (34 OPA1, 8 WFS1) were included. MMD was found in 12 (29%) patients, i.e. 6 of the 8 WFS1 patients (75%) and 6 of the 34 OPA1 patients (17%). In cases with MMD, total retinal volume was greater (P=0.02) in accordance with thickening of the inner nuclear layer (P<0.001). WFS1 subjects had the highest total retinal volume (P=0.01), in relation to a thickening of the inner plexiform layer (P=0.02), inner nuclear layer (P<0.001) and outer plexiform layer (P=0.002). MMD was significantly associated with the WFS1 mutation (P<0.001). No significant association was found between the presence of vitreomacular adhesion and MMD.

MMD was found in 29% of patients affected by AON and was more frequent in cases with a WFS1 gene mutation. MMD appears to be related to primary ganglion cell degeneration and Müller cell dysfunction. The vitreomacular interface does not appear to play a role in the occurrence of MMD.