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Longitudinal Structure–Function Evaluation in a Patient with CDHR1-Associated Retinal Dystrophy: Progressive Visual Function Loss with Retinal Remodeling

Background: Retinal dystrophies related to damaging variants in the cadherin-related family member 1 (CDHR1) gene are rare and phenotypically heterogeneous. Here, we report a longitudinal (three-year) structure–function evaluation of a patient with a CDHR1-related retinal dystrophy. Methods: A 14-ye...

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Autores principales: Cusumano, Andrea, Falsini, Benedetto, D’Apolito, Fabian, D’Ambrosio, Michele, Sebastiani, Jacopo, Cascella, Raffaella, Barati, Shila, Giardina, Emiliano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9914892/
https://www.ncbi.nlm.nih.gov/pubmed/36766497
http://dx.doi.org/10.3390/diagnostics13030392
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author Cusumano, Andrea
Falsini, Benedetto
D’Apolito, Fabian
D’Ambrosio, Michele
Sebastiani, Jacopo
Cascella, Raffaella
Barati, Shila
Giardina, Emiliano
author_facet Cusumano, Andrea
Falsini, Benedetto
D’Apolito, Fabian
D’Ambrosio, Michele
Sebastiani, Jacopo
Cascella, Raffaella
Barati, Shila
Giardina, Emiliano
author_sort Cusumano, Andrea
collection PubMed
description Background: Retinal dystrophies related to damaging variants in the cadherin-related family member 1 (CDHR1) gene are rare and phenotypically heterogeneous. Here, we report a longitudinal (three-year) structure–function evaluation of a patient with a CDHR1-related retinal dystrophy. Methods: A 14-year-old girl was evaluated between 2019 and 2022. An ophthalmological assessment, including color vision, perimetry, electroretinography, and multimodal imaging of the retina, was performed periodically every six months. Next-generation sequencing disclosed two likely pathogenic/pathogenic variants in the CDHR1 gene, in compound heterozygosity, confirmed by segregation analysis. Results: At first examination, the patient showed a cone–rod pattern retinal dystrophy. Over follow-up, there was a decline of visual acuity and perimetric sensitivity (by ≥0.3 and 0.6 log units, respectively). Visual loss was associated with a progressive increase in inner retinal thickness (by 30%). Outer retina showed no detectable changes over the follow-up. Conclusions: The results indicate that, in this patient with a CDHR1-related cone–rod dystrophy, the progression to severe visual loss was paralleled by a progressive inner retinal thickening, likely a reflection of remodeling. Inner retinal changes over time may be functionally relevant in view of the therapeutic attempts based on gene therapy or stem cells to mitigate photoreceptor loss.
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spelling pubmed-99148922023-02-11 Longitudinal Structure–Function Evaluation in a Patient with CDHR1-Associated Retinal Dystrophy: Progressive Visual Function Loss with Retinal Remodeling Cusumano, Andrea Falsini, Benedetto D’Apolito, Fabian D’Ambrosio, Michele Sebastiani, Jacopo Cascella, Raffaella Barati, Shila Giardina, Emiliano Diagnostics (Basel) Case Report Background: Retinal dystrophies related to damaging variants in the cadherin-related family member 1 (CDHR1) gene are rare and phenotypically heterogeneous. Here, we report a longitudinal (three-year) structure–function evaluation of a patient with a CDHR1-related retinal dystrophy. Methods: A 14-year-old girl was evaluated between 2019 and 2022. An ophthalmological assessment, including color vision, perimetry, electroretinography, and multimodal imaging of the retina, was performed periodically every six months. Next-generation sequencing disclosed two likely pathogenic/pathogenic variants in the CDHR1 gene, in compound heterozygosity, confirmed by segregation analysis. Results: At first examination, the patient showed a cone–rod pattern retinal dystrophy. Over follow-up, there was a decline of visual acuity and perimetric sensitivity (by ≥0.3 and 0.6 log units, respectively). Visual loss was associated with a progressive increase in inner retinal thickness (by 30%). Outer retina showed no detectable changes over the follow-up. Conclusions: The results indicate that, in this patient with a CDHR1-related cone–rod dystrophy, the progression to severe visual loss was paralleled by a progressive inner retinal thickening, likely a reflection of remodeling. Inner retinal changes over time may be functionally relevant in view of the therapeutic attempts based on gene therapy or stem cells to mitigate photoreceptor loss. MDPI 2023-01-20 /pmc/articles/PMC9914892/ /pubmed/36766497 http://dx.doi.org/10.3390/diagnostics13030392 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/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/).
spellingShingle Case Report
Cusumano, Andrea
Falsini, Benedetto
D’Apolito, Fabian
D’Ambrosio, Michele
Sebastiani, Jacopo
Cascella, Raffaella
Barati, Shila
Giardina, Emiliano
Longitudinal Structure–Function Evaluation in a Patient with CDHR1-Associated Retinal Dystrophy: Progressive Visual Function Loss with Retinal Remodeling
title Longitudinal Structure–Function Evaluation in a Patient with CDHR1-Associated Retinal Dystrophy: Progressive Visual Function Loss with Retinal Remodeling
title_full Longitudinal Structure–Function Evaluation in a Patient with CDHR1-Associated Retinal Dystrophy: Progressive Visual Function Loss with Retinal Remodeling
title_fullStr Longitudinal Structure–Function Evaluation in a Patient with CDHR1-Associated Retinal Dystrophy: Progressive Visual Function Loss with Retinal Remodeling
title_full_unstemmed Longitudinal Structure–Function Evaluation in a Patient with CDHR1-Associated Retinal Dystrophy: Progressive Visual Function Loss with Retinal Remodeling
title_short Longitudinal Structure–Function Evaluation in a Patient with CDHR1-Associated Retinal Dystrophy: Progressive Visual Function Loss with Retinal Remodeling
title_sort longitudinal structure–function evaluation in a patient with cdhr1-associated retinal dystrophy: progressive visual function loss with retinal remodeling
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9914892/
https://www.ncbi.nlm.nih.gov/pubmed/36766497
http://dx.doi.org/10.3390/diagnostics13030392
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