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Descriptive Study of a Cohort of 488 Patients with Inherited Retinal Dystrophies
PURPOSE: To analyze the distribution of inherited retinal diseases (IRDs), describe the clinical characteristics of patients, and determine the percentages of patients with genetic diagnosis in the Castilla y Leon region of Spain. METHODS: All patients with an IRD seen in the two major referral unit...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Dove
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7955737/ https://www.ncbi.nlm.nih.gov/pubmed/33727790 http://dx.doi.org/10.2147/OPTH.S293381 |
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author | Coco-Martin, Rosa M Diego-Alonso, Miguel Orduz-Montaña, W Andres Sanabria, M Rosa Sanchez-Tocino, Hortensia |
author_facet | Coco-Martin, Rosa M Diego-Alonso, Miguel Orduz-Montaña, W Andres Sanabria, M Rosa Sanchez-Tocino, Hortensia |
author_sort | Coco-Martin, Rosa M |
collection | PubMed |
description | PURPOSE: To analyze the distribution of inherited retinal diseases (IRDs), describe the clinical characteristics of patients, and determine the percentages of patients with genetic diagnosis in the Castilla y Leon region of Spain. METHODS: All patients with an IRD seen in the two major referral units of Castilla y Leon during a 20-year period were included. The ages at symptom onset, diagnosis, and the last visit; sex; family history; history of consanguinity; type of inheritance; status of the fundus and electroretinogram findings; lens and macular status, visual acuity; and visual field data were recorded. Patients were divided into those with retinitis pigmentosa (RP) and all others. Gene mutations were gathered when available. RESULTS: Four hundred eighty-eight patients with IRDs were studied: 216 (44.26%) with RP of which 34 (15.74%) had syndromic diseases, and 272 had other conditions being 161 (59,19%) macular dystrophies. The mean delay in diagnosis was 6–16.2 years respectively. For the RP group the mean age at the last visit was 47.96±17,26; mean age of cataract surgery was 48.30 ± 12.01 years; and the foveal area was preserved in 74 (35.07%) patients, atrophic in 101 (47.87%), and edematous in 36 (17.06%). A genetic study had been performed in 58 (26.85%) of patients with RP and 71 (26,1%) of the rest, being indeterminate in 17 (29.31%) out of RP group and 20 (28.16%) out of the others. CONCLUSION: Clinical characteristics are comparable to other published series. There is a significant delay in diagnosis. The number of patients with IRDs and available genetic diagnosis, thus being possible candidates for undergoing personalized treatments including gene therapy in our region is low and must be improved. |
format | Online Article Text |
id | pubmed-7955737 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Dove |
record_format | MEDLINE/PubMed |
spelling | pubmed-79557372021-03-15 Descriptive Study of a Cohort of 488 Patients with Inherited Retinal Dystrophies Coco-Martin, Rosa M Diego-Alonso, Miguel Orduz-Montaña, W Andres Sanabria, M Rosa Sanchez-Tocino, Hortensia Clin Ophthalmol Original Research PURPOSE: To analyze the distribution of inherited retinal diseases (IRDs), describe the clinical characteristics of patients, and determine the percentages of patients with genetic diagnosis in the Castilla y Leon region of Spain. METHODS: All patients with an IRD seen in the two major referral units of Castilla y Leon during a 20-year period were included. The ages at symptom onset, diagnosis, and the last visit; sex; family history; history of consanguinity; type of inheritance; status of the fundus and electroretinogram findings; lens and macular status, visual acuity; and visual field data were recorded. Patients were divided into those with retinitis pigmentosa (RP) and all others. Gene mutations were gathered when available. RESULTS: Four hundred eighty-eight patients with IRDs were studied: 216 (44.26%) with RP of which 34 (15.74%) had syndromic diseases, and 272 had other conditions being 161 (59,19%) macular dystrophies. The mean delay in diagnosis was 6–16.2 years respectively. For the RP group the mean age at the last visit was 47.96±17,26; mean age of cataract surgery was 48.30 ± 12.01 years; and the foveal area was preserved in 74 (35.07%) patients, atrophic in 101 (47.87%), and edematous in 36 (17.06%). A genetic study had been performed in 58 (26.85%) of patients with RP and 71 (26,1%) of the rest, being indeterminate in 17 (29.31%) out of RP group and 20 (28.16%) out of the others. CONCLUSION: Clinical characteristics are comparable to other published series. There is a significant delay in diagnosis. The number of patients with IRDs and available genetic diagnosis, thus being possible candidates for undergoing personalized treatments including gene therapy in our region is low and must be improved. Dove 2021-03-09 /pmc/articles/PMC7955737/ /pubmed/33727790 http://dx.doi.org/10.2147/OPTH.S293381 Text en © 2021 Coco-Martin et al. http://creativecommons.org/licenses/by-nc/3.0/ This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms (https://www.dovepress.com/terms.php). |
spellingShingle | Original Research Coco-Martin, Rosa M Diego-Alonso, Miguel Orduz-Montaña, W Andres Sanabria, M Rosa Sanchez-Tocino, Hortensia Descriptive Study of a Cohort of 488 Patients with Inherited Retinal Dystrophies |
title | Descriptive Study of a Cohort of 488 Patients with Inherited Retinal Dystrophies |
title_full | Descriptive Study of a Cohort of 488 Patients with Inherited Retinal Dystrophies |
title_fullStr | Descriptive Study of a Cohort of 488 Patients with Inherited Retinal Dystrophies |
title_full_unstemmed | Descriptive Study of a Cohort of 488 Patients with Inherited Retinal Dystrophies |
title_short | Descriptive Study of a Cohort of 488 Patients with Inherited Retinal Dystrophies |
title_sort | descriptive study of a cohort of 488 patients with inherited retinal dystrophies |
topic | Original Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7955737/ https://www.ncbi.nlm.nih.gov/pubmed/33727790 http://dx.doi.org/10.2147/OPTH.S293381 |
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