{
    "abstract": "Verifying whether specific genotypes causing retinitis pigmentosa (RP) show differences in the preservation of rod and cone function measured by chromatic pupil campimetry (CPC).\nSixty-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.\nPupillary 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.\nRod 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.",
    "authors": [
        {
            "affiliation": "University Eye Hospital, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany.\nPupil Research Group at the Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany.",
            "firstname": "Carina",
            "initials": "C",
            "lastname": "Kelbsch"
        },
        {
            "affiliation": "University Eye Hospital, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany.\nCenter for Rare Eye Diseases, University of Tuebingen, Tuebingen, Germany.",
            "firstname": "Melanie",
            "initials": "M",
            "lastname": "Kempf"
        },
        {
            "affiliation": "University Eye Hospital, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany.\nPupil Research Group at the Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany.",
            "firstname": "Ronja",
            "initials": "R",
            "lastname": "Jung"
        },
        {
            "affiliation": "University Eye Hospital, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany.",
            "firstname": "Friederike",
            "initials": "F",
            "lastname": "Kort\u00fcm"
        },
        {
            "affiliation": "University Eye Hospital, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany.",
            "firstname": "Milda",
            "initials": "M",
            "lastname": "Reith"
        },
        {
            "affiliation": "University Eye Hospital, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany.\nInstitute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany.",
            "firstname": "Laura",
            "initials": "L",
            "lastname": "Kuehlewein"
        },
        {
            "affiliation": "Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany.",
            "firstname": "Susanne",
            "initials": "S",
            "lastname": "Kohl"
        },
        {
            "affiliation": "University Eye Hospital, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany.\nPupil Research Group at the Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany.\nInstitute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany.",
            "firstname": "Torsten",
            "initials": "T",
            "lastname": "Strasser"
        },
        {
            "affiliation": "Pupil Research Group at the Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany.",
            "firstname": "Tobias",
            "initials": "T",
            "lastname": "Peters"
        },
        {
            "affiliation": "University Eye Hospital, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany.\nPupil Research Group at the Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany.",
            "firstname": "Helmut",
            "initials": "H",
            "lastname": "Wilhelm"
        },
        {
            "affiliation": "Pupil Research Group at the Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany.",
            "firstname": "Barbara",
            "initials": "B",
            "lastname": "Wilhelm"
        },
        {
            "affiliation": "University Eye Hospital, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany.\nPupil Research Group at the Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany.\nCenter for Rare Eye Diseases, University of Tuebingen, Tuebingen, Germany.",
            "firstname": "Krunoslav",
            "initials": "K",
            "lastname": "Stingl"
        },
        {
            "affiliation": "University Eye Hospital, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany.\nCenter for Rare Eye Diseases, University of Tuebingen, Tuebingen, Germany.",
            "firstname": "Katarina",
            "initials": "K",
            "lastname": "Stingl"
        }
    ],
    "conclusions": null,
    "copyrights": null,
    "doi": "10.1167/iovs.64.11.18",
    "journal": "Investigative ophthalmology & visual science",
    "keywords": [],
    "methods": null,
    "publication_date": "2023-08-14",
    "pubmed_id": "37578425\n29597005\n34001227\n34607013\n36096933\n31788348\n33472769\n32805733\n35262734\n29369809\n32821502\n30853933\n18641288\n11095629\n31443789\n28712537\n23828615\n33278565",
    "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.",
    "title": "Rod and Cone Function Measured Objectively by Chromatic Pupil Campimetry Show a Different Preservation Between Distinct Genotypes in Retinitis Pigmentosa.",
    "xml": "<Element 'PubmedArticle' at 0x78850369fdd0>"
}