Peripapillary Retinal Nerve Fiber Layer Relation in Autosomal Dominant Optic Atrophy

Abstract

Purpose : To examine the relationship between temporal peripapillary retinal nerve fiber layer (pRNFL) thickness and superior and inferior pole pRNFL thickness while correcting for anatomical variation in pRNFL distribution in healthy subjects and carriers of OPA1 deficits.

Methods : The study included 202 participants (93 males, 97 females, age 43±20 years) with 32 different pathogenic OPA1 variants and 73 first-degree relatives without OPA1 deficits (30 males, 43 females, age 34±18 years) from 66 families examined at two sites in Denmark (Rigshospitalet, Copenhagen and Aarhus University Hospital, Aarhus) and two sites in France (CHU Gui de Chauliac, Montpellier and Clinique Jules Verne, Nantes). Participants underwent optical coherence tomography and thickness of the temporal sector was compared with a mean of the superotemporal and the inferotemporal sectors and to the superonasal and inferonasal sectors (Fig. 1A) using mixed model analysis corrected for age and sex with family and eye as random effects.

Results : Superotemporal/inferotemporal thickness was proportional to temporal sector thickness in both controls (p<0.001) and ADOA participants (p<0.001, Fig. 1B), whereas superonasal/inferonasal thickness was inversely proportional to temporal thickness in controls, (p<0.001), but directly proportional in ADOA participants, most notably at the inferior pole (Fig. 1B).

Conclusions : In a healthy eyes, a thin temporal pRNLF sector is balanced by a thicker pRNFL near the poles of the optic disc, but this phenomenon is absent in ADOA. It reflects that in healthy subjects a wide angle between the temporal nerve fiber ridges is associated with a short fovea-disc distance and a thin temporal pRNFL. Accordingly, suspicion of ADOA prompted by a thin temporal pRNFL can be tempered by the observation of thick superionasal and inferonasal RNFL sectors.

This abstract was presented at the 2024 ARVO Annual Meeting, held in Seattle, WA, May 5-9, 2024.

 

Illustration of qualitative (A) and quantitative (B) differences between peripapillary nerve fiber layer distributions in healthy subjects with normal vision (blue) and ADOA patients (red). While the temporal sector (T) can be of lower thickness in both groups (A and B), eyes with normal vision have relatively thick nerve fibers sectors near the superior and inferior poles of the optic disc, an effect seen most prominently on the nasal sides of the poles (sectors NS and NI).