Optic Disc Hypoplasia Assessment in PAX6 -Related Aniridia

Alexandre Dentel; Mohammed B Madani; Matthieu P Robert; Sophie Valleix; Dominique Brémond-Gignac; Alejandra Daruich

doi:10.1097/WNO.0000000000002083

Optic Disc Hypoplasia Assessment in PAX6 -Related Aniridia

J Neuroophthalmol. 2024 Jan 16. doi: 10.1097/WNO.0000000000002083. Online ahead of print.

Authors

Alexandre Dentel¹, Mohammed B Madani, Matthieu P Robert, Sophie Valleix, Dominique Brémond-Gignac, Alejandra Daruich

Affiliation

¹ Ophthalmology Department (Alexandre Dentel, MBM, MPR, DB-G, Alejandra Daruich), Necker-Enfants Malades University Hospital, AP-HP, Paris Cité University, Paris, France; Borelli Centre (MPR), UMR 9010, CNRS-SSA-ENS Paris Saclay-Paris Cité University, Paris, France; INSERM (SV, DB-G, Alejandra Daruich), UMRS1138, Team 17, From Physiopathology of Ocular Diseases to Clinical Development, Paris Cité University, Centre de Recherche des Cordeliers, Paris, France; and Medecine Genomic Department of Systemic and Organ Diseases (SV), Cochin Hospital, APHP, Paris Cité University, Paris, France.

PMID: 38227763
DOI: 10.1097/WNO.0000000000002083

Abstract

Background: This study aims to characterize optic disc hypoplasia in congenital aniridia using ultra-wide-field imaging (UWFI) and nonmydriatic retinal photography (NMRP). We also investigated the relation between optic disc hypoplasia and foveal hypoplasia.

Methods: This is a retrospective case series of patients diagnosed with PAX6 -related aniridia in a National Referral Center, who underwent UWFI, NMRP, and spectral-domain optical coherence tomography (SD-OCT) . The disc diameter (DD) and the disc-to-fovea distance (DF) were measured. The DD:DF ratio was used to assess the relative size of the optic disc. The analyses were carried with respect to paired age- and sex-matched healthy controls. SD-OCT was used for foveal hypoplasia grading (from 1 to 4) and retinal nerve fiber layer (RNFL) analysis.

Results: Mean manual DD:DF ratio was 0.33 (95% CI: 0.31-0.35) in aniridia patients versus 0.37 (95% CI: 0.36-0.39) in control patients (n = 20, P = 0.005) measured on NMRP and 0.32 (95% CI: 0.30-0.35) in aniridia patients versus 0.37 (95% CI: 0.37-0.39) in control patients (n = 26, P < 0.0001) when assessed on UWFI. Mean semiautomated DD:DF ratio measured on UWFI in aniridia patients was 0.31 (95% CI: 0.29-0.33) versus 0.37 (95% CI: 0.36-0.38) in control patients ( P < 0.0001). Also, a negative correlation was found significant between the grade of foveal hypoplasia and the mean semiautomated DD:DF ratio (r = -0.52, 95% CI: -0.76 to -0.15, P = 0.0067). Finally, a significant negative correlation was found between the peripapillary temporal RNFL thickness and the grade of foveal hypoplasia ( P = 0.0034).

Conclusions: The DD:DF ratio is significantly reduced in PAX6 -related aniridia patients and correlates with the severity of foveal hypoplasia. This ratio is a valuable tool for optic disc hypoplasia assessment in congenital aniridia, especially when provided semiautomatically by UWFI.