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Rod and Cone Function Measured Objectively by Chromatic Pupil Campimetry Show a Different Preservation Between Distinct Genotypes in Retinitis Pigmentosa
PURPOSE: Verifying whether specific genotypes causing retinitis pigmentosa (RP) show differences in the preservation of rod and cone function measured by chromatic pupil campimetry (CPC). METHODS: Sixty-three RP eyes (37 male, 14–58 years) were measured using CPC with specific photopic and scotopic...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Association for Research in Vision and Ophthalmology
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10431211/ https://www.ncbi.nlm.nih.gov/pubmed/37578425 http://dx.doi.org/10.1167/iovs.64.11.18 |
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author | Kelbsch, Carina Kempf, Melanie Jung, Ronja Kortüm, Friederike Reith, Milda Kuehlewein, Laura Kohl, Susanne Strasser, Torsten Peters, Tobias Wilhelm, Helmut Wilhelm, Barbara Stingl, Krunoslav Stingl, Katarina |
author_facet | Kelbsch, Carina Kempf, Melanie Jung, Ronja Kortüm, Friederike Reith, Milda Kuehlewein, Laura Kohl, Susanne Strasser, Torsten Peters, Tobias Wilhelm, Helmut Wilhelm, Barbara Stingl, Krunoslav Stingl, Katarina |
author_sort | Kelbsch, Carina |
collection | PubMed |
description | PURPOSE: Verifying whether specific genotypes causing retinitis pigmentosa (RP) show differences in the preservation of rod and cone function measured by chromatic pupil campimetry (CPC). METHODS: Sixty-three RP eyes (37 male, 14–58 years) were measured using CPC with specific photopic and scotopic protocols, and the relative maximal constriction amplitudes and latencies to constriction onset were analyzed per genotype (RP due to variants in EYS, n = 14; PDE6A, n = 10; RPE65, n = 15; USH2A, n = 10; and RPGR, n = 14). Correlation analyses between the pupillary responses were performed with age, full-field stimulus threshold (FST), and optical coherence tomography (OCT) for cones and rods, respectively, to the genotype. RESULTS: Pupillary responses were most severely reduced in RPE65-RP. Patients with disease-associated variants in EYS and USH2A were accompanied with better-preserved rod function compared with the other subgroups, reaching statistical significance between EYS and RPE65. Cone function was statistically significantly correlated with age in USH2A-RP with an annual decline of 2.4%. Correlations of pupillary responses were found with FST but barely with the ellipsoid zone area in OCT. Latency was significantly more prolonged in RPE65-RP compared with the other genotypes for cones. CONCLUSIONS: Rod and cone function measured objectively by CPC showed a different preservation between genotypes in RP. However, heterogeneity inside the same genotype was present. CPC data correlated with FST, but structural OCT parameters seem to be limited indicators for photoreceptor function in RP. Prolonged time dynamics for cones in RPE65 mutations suggest an impact on cone processing and might provide additional information in the evaluation of therapy effects. |
format | Online Article Text |
id | pubmed-10431211 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | The Association for Research in Vision and Ophthalmology |
record_format | MEDLINE/PubMed |
spelling | pubmed-104312112023-08-17 Rod and Cone Function Measured Objectively by Chromatic Pupil Campimetry Show a Different Preservation Between Distinct Genotypes in Retinitis Pigmentosa Kelbsch, Carina Kempf, Melanie Jung, Ronja Kortüm, Friederike Reith, Milda Kuehlewein, Laura Kohl, Susanne Strasser, Torsten Peters, Tobias Wilhelm, Helmut Wilhelm, Barbara Stingl, Krunoslav Stingl, Katarina Invest Ophthalmol Vis Sci Retina PURPOSE: Verifying whether specific genotypes causing retinitis pigmentosa (RP) show differences in the preservation of rod and cone function measured by chromatic pupil campimetry (CPC). METHODS: Sixty-three RP eyes (37 male, 14–58 years) were measured using CPC with specific photopic and scotopic protocols, and the relative maximal constriction amplitudes and latencies to constriction onset were analyzed per genotype (RP due to variants in EYS, n = 14; PDE6A, n = 10; RPE65, n = 15; USH2A, n = 10; and RPGR, n = 14). Correlation analyses between the pupillary responses were performed with age, full-field stimulus threshold (FST), and optical coherence tomography (OCT) for cones and rods, respectively, to the genotype. RESULTS: Pupillary responses were most severely reduced in RPE65-RP. Patients with disease-associated variants in EYS and USH2A were accompanied with better-preserved rod function compared with the other subgroups, reaching statistical significance between EYS and RPE65. Cone function was statistically significantly correlated with age in USH2A-RP with an annual decline of 2.4%. Correlations of pupillary responses were found with FST but barely with the ellipsoid zone area in OCT. Latency was significantly more prolonged in RPE65-RP compared with the other genotypes for cones. CONCLUSIONS: Rod and cone function measured objectively by CPC showed a different preservation between genotypes in RP. However, heterogeneity inside the same genotype was present. CPC data correlated with FST, but structural OCT parameters seem to be limited indicators for photoreceptor function in RP. Prolonged time dynamics for cones in RPE65 mutations suggest an impact on cone processing and might provide additional information in the evaluation of therapy effects. The Association for Research in Vision and Ophthalmology 2023-08-14 /pmc/articles/PMC10431211/ /pubmed/37578425 http://dx.doi.org/10.1167/iovs.64.11.18 Text en Copyright 2023 The Authors https://creativecommons.org/licenses/by/4.0/This work is licensed under a Creative Commons Attribution 4.0 International License. |
spellingShingle | Retina Kelbsch, Carina Kempf, Melanie Jung, Ronja Kortüm, Friederike Reith, Milda Kuehlewein, Laura Kohl, Susanne Strasser, Torsten Peters, Tobias Wilhelm, Helmut Wilhelm, Barbara Stingl, Krunoslav Stingl, Katarina Rod and Cone Function Measured Objectively by Chromatic Pupil Campimetry Show a Different Preservation Between Distinct Genotypes in Retinitis Pigmentosa |
title | Rod and Cone Function Measured Objectively by Chromatic Pupil Campimetry Show a Different Preservation Between Distinct Genotypes in Retinitis Pigmentosa |
title_full | Rod and Cone Function Measured Objectively by Chromatic Pupil Campimetry Show a Different Preservation Between Distinct Genotypes in Retinitis Pigmentosa |
title_fullStr | Rod and Cone Function Measured Objectively by Chromatic Pupil Campimetry Show a Different Preservation Between Distinct Genotypes in Retinitis Pigmentosa |
title_full_unstemmed | Rod and Cone Function Measured Objectively by Chromatic Pupil Campimetry Show a Different Preservation Between Distinct Genotypes in Retinitis Pigmentosa |
title_short | Rod and Cone Function Measured Objectively by Chromatic Pupil Campimetry Show a Different Preservation Between Distinct Genotypes in Retinitis Pigmentosa |
title_sort | rod and cone function measured objectively by chromatic pupil campimetry show a different preservation between distinct genotypes in retinitis pigmentosa |
topic | Retina |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10431211/ https://www.ncbi.nlm.nih.gov/pubmed/37578425 http://dx.doi.org/10.1167/iovs.64.11.18 |
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