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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...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2023
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.
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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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