Shaima Awadh Hashem, Michalis Georgiou, Genevieve Wright, Yu Fujinami-Yokokawa, Yannik Laich, Malena Daich Varela, Thales A C de Guimaraes, Omar A Mahroo, Andrew R Webster, Kaoru Fujinami, Michel Michaelides
{"title":"与 PDE6A 相关的视网膜色素变性、临床特征、遗传学和自然史。","authors":"Shaima Awadh Hashem, Michalis Georgiou, Genevieve Wright, Yu Fujinami-Yokokawa, Yannik Laich, Malena Daich Varela, Thales A C de Guimaraes, Omar A Mahroo, Andrew R Webster, Kaoru Fujinami, Michel Michaelides","doi":"10.1016/j.oret.2024.08.018","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>To analyze the genetics, clinical characteristics, and natural history of PDE6A-associated retinitis pigmentosa.</p><p><strong>Design: </strong>Retrospective, longitudinal, observational cohort study.</p><p><strong>Participants: </strong>Patients with molecularly confirmed PDE6A-associated retinal dystrophy in a single tertiary referral center.</p><p><strong>Methods: </strong>Review of medical records and retinal imaging, including fundus autofluorescence (FAF) imaging and spectral-domain OCT. Genetic results were reviewed, and the detected variants were assessed.</p><p><strong>Main outcome measures: </strong>Molecular genetic testing, clinical findings including best-corrected visual acuity (BCVA), qualitative and quantitative retinal imaging analysis.</p><p><strong>Results: </strong>Sixteen patients (32 eyes) were identified and evaluated longitudinally. Genetic analysis identified 14 variants in the PDE6A gene, including 8 novel variants. The mean age (± standard deviation, range) was 34.8 years (± 17.4, 12-76) at baseline, with a mean follow-up time of 4.8 years. Best-corrected visual acuity was 0.45 ± 0.45 logarithm of the minimum angle of resolution (logMAR) (range 0.0-1.6) at baseline and 0.65 ± 0.7 logMAR (range 0.0-2.3) at the last visit. Best-corrected visual acuity was similar among eyes in 88% of patients. A hyperautofluorescent ring was observed on FAF in 50% and 43.8% of the eyes at baseline and follow-up visit, respectively, with a mean area of 9.7 ± 4.5 mm<sup>2</sup> at baseline and mean of 8.6 ± 4.8 mm<sup>2</sup> at the follow-up visit. Mean horizontal ellipsoid zone width (EZW) at baseline was 1765 ± 1093 μm, which decreased to 1580 ± 1077 μm at follow-up. Eighteen eyes exhibited cystoid macular edema at baseline (56%), and 17 eyes (53%) at follow-up. There were statistically significant changes during the follow-up period in terms of BCVA, hyperautofluorescent ring area, and the EZW.</p><p><strong>Conclusions: </strong>This study highlights the natural history of PDE6A-retinopathy. Most patients in this cohort had mild BCVA loss, and slowly progressive disease, based on FAF and OCT measurements.</p><p><strong>Financial disclosure(s): </strong>Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.</p>","PeriodicalId":19501,"journal":{"name":"Ophthalmology. Retina","volume":null,"pages":null},"PeriodicalIF":4.4000,"publicationDate":"2024-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"PDE6A-Associated Retinitis Pigmentosa, Clinical Characteristics, Genetics, and Natural History.\",\"authors\":\"Shaima Awadh Hashem, Michalis Georgiou, Genevieve Wright, Yu Fujinami-Yokokawa, Yannik Laich, Malena Daich Varela, Thales A C de Guimaraes, Omar A Mahroo, Andrew R Webster, Kaoru Fujinami, Michel Michaelides\",\"doi\":\"10.1016/j.oret.2024.08.018\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Purpose: </strong>To analyze the genetics, clinical characteristics, and natural history of PDE6A-associated retinitis pigmentosa.</p><p><strong>Design: </strong>Retrospective, longitudinal, observational cohort study.</p><p><strong>Participants: </strong>Patients with molecularly confirmed PDE6A-associated retinal dystrophy in a single tertiary referral center.</p><p><strong>Methods: </strong>Review of medical records and retinal imaging, including fundus autofluorescence (FAF) imaging and spectral-domain OCT. Genetic results were reviewed, and the detected variants were assessed.</p><p><strong>Main outcome measures: </strong>Molecular genetic testing, clinical findings including best-corrected visual acuity (BCVA), qualitative and quantitative retinal imaging analysis.</p><p><strong>Results: </strong>Sixteen patients (32 eyes) were identified and evaluated longitudinally. Genetic analysis identified 14 variants in the PDE6A gene, including 8 novel variants. The mean age (± standard deviation, range) was 34.8 years (± 17.4, 12-76) at baseline, with a mean follow-up time of 4.8 years. Best-corrected visual acuity was 0.45 ± 0.45 logarithm of the minimum angle of resolution (logMAR) (range 0.0-1.6) at baseline and 0.65 ± 0.7 logMAR (range 0.0-2.3) at the last visit. Best-corrected visual acuity was similar among eyes in 88% of patients. A hyperautofluorescent ring was observed on FAF in 50% and 43.8% of the eyes at baseline and follow-up visit, respectively, with a mean area of 9.7 ± 4.5 mm<sup>2</sup> at baseline and mean of 8.6 ± 4.8 mm<sup>2</sup> at the follow-up visit. Mean horizontal ellipsoid zone width (EZW) at baseline was 1765 ± 1093 μm, which decreased to 1580 ± 1077 μm at follow-up. Eighteen eyes exhibited cystoid macular edema at baseline (56%), and 17 eyes (53%) at follow-up. There were statistically significant changes during the follow-up period in terms of BCVA, hyperautofluorescent ring area, and the EZW.</p><p><strong>Conclusions: </strong>This study highlights the natural history of PDE6A-retinopathy. Most patients in this cohort had mild BCVA loss, and slowly progressive disease, based on FAF and OCT measurements.</p><p><strong>Financial disclosure(s): </strong>Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.</p>\",\"PeriodicalId\":19501,\"journal\":{\"name\":\"Ophthalmology. Retina\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":4.4000,\"publicationDate\":\"2024-08-31\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Ophthalmology. 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Participants: Patients with molecularly confirmed PDE6A-associated retinal dystrophy in a single tertiary referral center.
Methods: Review of medical records and retinal imaging, including fundus autofluorescence (FAF) imaging and spectral-domain OCT. Genetic results were reviewed, and the detected variants were assessed.
Main outcome measures: Molecular genetic testing, clinical findings including best-corrected visual acuity (BCVA), qualitative and quantitative retinal imaging analysis.
Results: Sixteen patients (32 eyes) were identified and evaluated longitudinally. Genetic analysis identified 14 variants in the PDE6A gene, including 8 novel variants. The mean age (± standard deviation, range) was 34.8 years (± 17.4, 12-76) at baseline, with a mean follow-up time of 4.8 years. Best-corrected visual acuity was 0.45 ± 0.45 logarithm of the minimum angle of resolution (logMAR) (range 0.0-1.6) at baseline and 0.65 ± 0.7 logMAR (range 0.0-2.3) at the last visit. Best-corrected visual acuity was similar among eyes in 88% of patients. A hyperautofluorescent ring was observed on FAF in 50% and 43.8% of the eyes at baseline and follow-up visit, respectively, with a mean area of 9.7 ± 4.5 mm2 at baseline and mean of 8.6 ± 4.8 mm2 at the follow-up visit. Mean horizontal ellipsoid zone width (EZW) at baseline was 1765 ± 1093 μm, which decreased to 1580 ± 1077 μm at follow-up. Eighteen eyes exhibited cystoid macular edema at baseline (56%), and 17 eyes (53%) at follow-up. There were statistically significant changes during the follow-up period in terms of BCVA, hyperautofluorescent ring area, and the EZW.
Conclusions: This study highlights the natural history of PDE6A-retinopathy. Most patients in this cohort had mild BCVA loss, and slowly progressive disease, based on FAF and OCT measurements.
Financial disclosure(s): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
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