Assessment of <i>CRB1</i>-Associated Retinopathies Using the S-MAIA Fast Protocol and Spectral-Domain Optical Coherence Tomography
<b>Background:</b> A cross-sectional study was conducted at Moorfields Eye Hospital, UK, involving patients with <i>CRB1</i>-associated retinopathies: macular dystrophy (MD), cone-rod dystrophy (CORD), and early-onset severe retinal dystrophy/Leber congenital amaurosis (EOSRD...
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MDPI AG
2025-02-01
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| author | Bethany E. Higgins Ana Catalina Rodriguez-Martinez Giovanni Montesano Vijay K. Tailor-Hamblin Samantha Malka Robert H. Henderson Mariya Moosajee |
| author_facet | Bethany E. Higgins Ana Catalina Rodriguez-Martinez Giovanni Montesano Vijay K. Tailor-Hamblin Samantha Malka Robert H. Henderson Mariya Moosajee |
| author_sort | Bethany E. Higgins |
| collection | DOAJ |
| description | <b>Background:</b> A cross-sectional study was conducted at Moorfields Eye Hospital, UK, involving patients with <i>CRB1</i>-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 <i>CRB1</i>-associated retinopathies using microperimetry (macular integrity assessment (S-MAIA) fast protocol) and spectral domain optical coherence tomography (SD-OCT). <b>Methods:</b> 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. <b>Results:</b> 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 (<i>p</i> < 0.01). <b>Conclusions:</b> 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 <i>CRB1</i>-associated retinopathies, providing further insights into S-MAIA and SD-OCT assessments for this patient population. |
| format | Article |
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| institution | OA Journals |
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| language | English |
| publishDate | 2025-02-01 |
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| series | Biomedicines |
| spelling | doaj-art-b5d18963640f4d04abf9c01ec7f13cab2025-08-20T02:11:04ZengMDPI AGBiomedicines2227-90592025-02-0113355510.3390/biomedicines13030555Assessment of <i>CRB1</i>-Associated Retinopathies Using the S-MAIA Fast Protocol and Spectral-Domain Optical Coherence TomographyBethany E. Higgins0Ana Catalina Rodriguez-Martinez1Giovanni Montesano2Vijay K. Tailor-Hamblin3Samantha Malka4Robert H. Henderson5Mariya Moosajee6UCL Institute of Ophthalmology, London EC1V 9EL, UKUCL Institute of Ophthalmology, London EC1V 9EL, UKUCL Institute of Ophthalmology, London EC1V 9EL, UKUCL Institute of Ophthalmology, London EC1V 9EL, UKMoorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UKMoorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UKUCL Institute of Ophthalmology, London EC1V 9EL, UK<b>Background:</b> A cross-sectional study was conducted at Moorfields Eye Hospital, UK, involving patients with <i>CRB1</i>-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 <i>CRB1</i>-associated retinopathies using microperimetry (macular integrity assessment (S-MAIA) fast protocol) and spectral domain optical coherence tomography (SD-OCT). <b>Methods:</b> 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. <b>Results:</b> 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 (<i>p</i> < 0.01). <b>Conclusions:</b> 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 <i>CRB1</i>-associated retinopathies, providing further insights into S-MAIA and SD-OCT assessments for this patient population.https://www.mdpi.com/2227-9059/13/3/555crumbs cell polarity complex component 1 gene (<i>CRB1</i>)Leber congenital amaurosis (LCA)cone-rod dystrophy (CORD)early-onset severe retinal dystrophy (EOSRD)macular dystrophy (MD)spectral domain optical coherence tomography (SD-OCT) |
| spellingShingle | Bethany E. Higgins Ana Catalina Rodriguez-Martinez Giovanni Montesano Vijay K. Tailor-Hamblin Samantha Malka Robert H. Henderson Mariya Moosajee Assessment of <i>CRB1</i>-Associated Retinopathies Using the S-MAIA Fast Protocol and Spectral-Domain Optical Coherence Tomography Biomedicines crumbs cell polarity complex component 1 gene (<i>CRB1</i>) Leber congenital amaurosis (LCA) cone-rod dystrophy (CORD) early-onset severe retinal dystrophy (EOSRD) macular dystrophy (MD) spectral domain optical coherence tomography (SD-OCT) |
| title | Assessment of <i>CRB1</i>-Associated Retinopathies Using the S-MAIA Fast Protocol and Spectral-Domain Optical Coherence Tomography |
| title_full | Assessment of <i>CRB1</i>-Associated Retinopathies Using the S-MAIA Fast Protocol and Spectral-Domain Optical Coherence Tomography |
| title_fullStr | Assessment of <i>CRB1</i>-Associated Retinopathies Using the S-MAIA Fast Protocol and Spectral-Domain Optical Coherence Tomography |
| title_full_unstemmed | Assessment of <i>CRB1</i>-Associated Retinopathies Using the S-MAIA Fast Protocol and Spectral-Domain Optical Coherence Tomography |
| title_short | Assessment of <i>CRB1</i>-Associated Retinopathies Using the S-MAIA Fast Protocol and Spectral-Domain Optical Coherence Tomography |
| title_sort | assessment of i crb1 i associated retinopathies using the s maia fast protocol and spectral domain optical coherence tomography |
| topic | crumbs cell polarity complex component 1 gene (<i>CRB1</i>) Leber congenital amaurosis (LCA) cone-rod dystrophy (CORD) early-onset severe retinal dystrophy (EOSRD) macular dystrophy (MD) spectral domain optical coherence tomography (SD-OCT) |
| url | https://www.mdpi.com/2227-9059/13/3/555 |
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