PMID- 38227763
OWN - NLM
STAT- Publisher
LR  - 20240117
IS  - 1536-5166 (Electronic)
IS  - 1070-8022 (Linking)
DP  - 2024 Jan 16
TI  - Optic Disc Hypoplasia Assessment in PAX6 -Related Aniridia.
LID - 10.1097/WNO.0000000000002083 [doi]
AB  - 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.
CI  - Copyright (c) 2024 by North American Neuro-Ophthalmology Society.
FAU - Dentel, Alexandre
AU  - Dentel A
AUID- ORCID: 0000-0003-2518-8380
AD  - Ophthalmology Department (Alexandre Dentel, MBM, MPR, DB-G, Alejandra Daruich), 
      Necker-Enfants Malades University Hospital, AP-HP, Paris Cite University, Paris, 
      France; Borelli Centre (MPR), UMR 9010, CNRS-SSA-ENS Paris Saclay-Paris Cite 
      University, Paris, France; INSERM (SV, DB-G, Alejandra Daruich), UMRS1138, Team 
      17, From Physiopathology of Ocular Diseases to Clinical Development, Paris Cite 
      University, Centre de Recherche des Cordeliers, Paris, France; and Medecine 
      Genomic Department of Systemic and Organ Diseases (SV), Cochin Hospital, APHP, 
      Paris Cite University, Paris, France.
FAU - Madani, Mohammed B
AU  - Madani MB
FAU - Robert, Matthieu P
AU  - Robert MP
FAU - Valleix, Sophie
AU  - Valleix S
FAU - Bremond-Gignac, Dominique
AU  - Bremond-Gignac D
FAU - Daruich, Alejandra
AU  - Daruich A
LA  - eng
PT  - Journal Article
DEP - 20240116
PL  - United States
TA  - J Neuroophthalmol
JT  - Journal of neuro-ophthalmology : the official journal of the North American 
      Neuro-Ophthalmology Society
JID - 9431308
SB  - IM
COIS- The authors report no conflicts of interest.
EDAT- 2024/01/16 18:42
MHDA- 2024/01/16 18:42
CRDT- 2024/01/16 14:23
PHST- 2024/01/16 18:42 [pubmed]
PHST- 2024/01/16 18:42 [medline]
PHST- 2024/01/16 14:23 [entrez]
AID - 00041327-990000000-00553 [pii]
AID - 10.1097/WNO.0000000000002083 [doi]
PST - aheadofprint
SO  - J Neuroophthalmol. 2024 Jan 16. doi: 10.1097/WNO.0000000000002083.