Assessment of CRB1-Associated Retinopathies Using the S-MAIA Fast Protocol and Spectral-Domain Optical Coherence Tomography
Higgins, B. E. 
ORCID: 0000-0002-4530-6156, Rodriguez-Martinez, A. C., Montesano, G. ORCID: 0000-0002-9148-2804 , Tailor-Hamblin, V. K. ORCID: 0000-0002-1254-3462, Malka, S. ORCID: 0000-0003-0020-4049, Henderson, R. H. ORCID: 0000-0002-5250-6404 & Moosajee, M. ORCID: 0000-0003-1688-5360 (2025).
Assessment of CRB1-Associated Retinopathies Using the S-MAIA Fast Protocol and Spectral-Domain Optical Coherence Tomography.
Biomedicines, 13(3),
article number 555.
doi: 10.3390/biomedicines13030555
Abstract
Background: A cross-sectional study was conducted at Moorfields Eye Hospital, UK, involving patients with CRB1-associated retinopathies: macular dystrophy (MD), cone-rod dystrophy (CORD), and early-onset severe retinal dystrophy/Leber congenital amaurosis (EOSRD/LCA). The study aimed to evaluate CRB1-associated retinopathies using microperimetry (macular integrity assessment (S-MAIA) fast protocol) and spectral domain optical coherence tomography (SD-OCT).
Methods: Data quality and participant attrition were assessed in 18 patients (10 MD, 5 EOSRD/LCA, 3 CORD), aged 10–52 years, with a median best corrected visual acuity (BCVA) of 0.41 logMAR.
Results: Microperimetry and SD-OCT data were obtained from 14 and 18 patients, respectively, but eccentric fixation hindered structure-function analysis. All participants showed overall abnormal sensitivity on the S-MAIA fast protocol. Parafoveal volume was significantly increased, while foveal thickness and volume were reduced compared to normative data (p < 0.01).
Conclusions: This study highlights the challenges of participant attrition and the need for alternative functional metrics to complement traditional evaluations. It also reinforces previous findings of abnormal retinal architecture in CRB1-associated retinopathies, providing further insights into S-MAIA and SD-OCT assessments for this patient population.
| Publication Type: | Article |
|---|---|
| Additional Information: | © 2025 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
| Publisher Keywords: | crumbs cell polarity complex component 1 gene (CRB1); Leber congenital amaurosis (LCA); cone-rod dystrophy (CORD); early-onset severe retinal dystrophy (EOSRD); macular dystrophy (MD); spectral domain optical coherence tomography (SD-OCT); macular integrity assessment (S-MAIA) |
| Departments: | School of Health & Medical Sciences School of Health & Medical Sciences > Optometry & Visual Sciences |
| SWORD Depositor: |
Available under License Creative Commons: Attribution International Public License 4.0.
Download (1MB) | Preview
Export
Downloads
Downloads per month over past year
Metadata
MetadataActions (login required)
Admin Login