{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T23:53:07Z","timestamp":1785801187854,"version":"3.56.0"},"reference-count":35,"publisher":"MDPI AG","issue":"14","license":[{"start":{"date-parts":[[2025,7,10]],"date-time":"2025-07-10T00:00:00Z","timestamp":1752105600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Objective: The clinical presentation of inherited retinal dystrophies associated with pathogenic variants in PRPH2 is highly variable. Here we present bilateral sector macular dystrophy as a novel clinical phenotype. Methods and analysis: Ophthalmologic examination, detailed retinal imaging with optical coherence tomography (OCT), OCT-angiography, fundus and near-infrared autofluorescence and molecular genetic testing were performed on a 30-year-old female. Results: The patient reported the onset of subjective visual disturbances 4.5 months prior to our first examination. Clinical examination and retinal imaging revealed bilateral sharply demarcated paracentral lesions in the temporal lower macula and otherwise normal retinal findings. Patient history revealed no medication or other possible causes for these unusual retinal lesions. Molecular genetic testing revealed a heterozygous c.623G&gt;A variation (p.(Gly208Asp)) in the PRPH2 gene. Conclusions: Bilateral sectoral macular dystrophy has not been reported previously in any inherited retinal dystrophy. This feature adds to the wide spectrum of PRPH2-associated clinical presentations.<\/jats:p>","DOI":"10.3390\/jcm14144893","type":"journal-article","created":{"date-parts":[[2025,7,11]],"date-time":"2025-07-11T11:26:37Z","timestamp":1752233197000},"page":"4893","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Bilateral Sector Macular Dystrophy Associated with PRPH2 Variant c.623G&gt;A (p.Gly208Asp)"],"prefix":"10.3390","volume":"14","author":[{"given":"Simone","family":"Kellner","sequence":"first","affiliation":[{"name":"Rare Retinal Disease Center, AugenZentrum Siegburg, MVZ Augen\u00e4rztliches Diagnostik-und Therapiezentrum Siegburg GmbH, 53721 Siegburg, Germany"},{"name":"RetinaScience, 53192 Bonn, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silke","family":"Weinitz","sequence":"additional","affiliation":[{"name":"Rare Retinal Disease Center, AugenZentrum Siegburg, MVZ Augen\u00e4rztliches Diagnostik-und Therapiezentrum Siegburg GmbH, 53721 Siegburg, Germany"},{"name":"RetinaScience, 53192 Bonn, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghazaleh","family":"Farmand","sequence":"additional","affiliation":[{"name":"Rare Retinal Disease Center, AugenZentrum Siegburg, MVZ Augen\u00e4rztliches Diagnostik-und Therapiezentrum Siegburg GmbH, 53721 Siegburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1508-0731","authenticated-orcid":false,"given":"Heidi","family":"St\u00f6hr","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8808-7723","authenticated-orcid":false,"given":"Bernhard H. F.","family":"Weber","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany"},{"name":"Institute of Clinical Human Genetics, University Hospital Regensburg, 93503 Regensburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5221-4631","authenticated-orcid":false,"given":"Ulrich","family":"Kellner","sequence":"additional","affiliation":[{"name":"Rare Retinal Disease Center, AugenZentrum Siegburg, MVZ Augen\u00e4rztliches Diagnostik-und Therapiezentrum Siegburg GmbH, 53721 Siegburg, Germany"},{"name":"RetinaScience, 53192 Bonn, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,7,10]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1528","DOI":"10.1002\/humu.24065","article-title":"Genotype-phenotype associations in a large PRPH2-related retinopathy cohort","volume":"41","author":"Reeves","year":"2020","journal-title":"Hum. Mutat."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1521","DOI":"10.1002\/humu.24275","article-title":"PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease","volume":"42","author":"Peeters","year":"2021","journal-title":"Hum. Mutat."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1167\/iovs.65.5.22","article-title":"Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients","volume":"65","author":"Thompson","year":"2024","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1016\/j.ajo.2024.10.025","article-title":"Prph2-Associated Retinal Diseases: A Systematic Review of Phenotypic Findings","volume":"271","author":"AlAshwal","year":"2025","journal-title":"Am. J. Ophthalmol."},{"key":"ref_5","doi-asserted-by":"crossref","unstructured":"Antonelli, G., Parravano, M., Barbano, L., Costanzo, E., Bertelli, M., Medori, M.C., Parisi, V., and Ziccardi, L. (2022). Multimodal Study of PRPH2 Gene-Related Retinal Phenotypes. Diagnostics, 12.","DOI":"10.3390\/diagnostics12081851"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1007\/s10633-022-09916-5","article-title":"Phenotypic variability in PRPH2 as demonstrated by a family with incomplete penetrance of autosomal dominant cone-rod dystrophy","volume":"146","author":"Soucy","year":"2023","journal-title":"Doc. Ophthalmol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1796","DOI":"10.1038\/s41431-021-00959-x","article-title":"The LOVD3 platform: Efficient genome-wide sharing of genetic variants","volume":"29","author":"Fokkema","year":"2021","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_8","first-page":"250","article-title":"Wide-field optical coherence tomography in ABCA4-associated inherited retinal dystrophies","volume":"5","author":"Saleh","year":"2021","journal-title":"J. Trans. Genet. Genom."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1923","DOI":"10.1007\/s00417-021-05530-4","article-title":"Optical coherence tomography angiography (OCT-A) in retinitis pigmentosa and macular dystrophy patients: A retrospective study","volume":"260","author":"Deutsch","year":"2022","journal-title":"Graefes Arch. Clin. Exp. Ophthalmol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"25529","DOI":"10.1038\/s41598-024-77014-4","article-title":"18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies","volume":"14","author":"Kiel","year":"2024","journal-title":"Sci. Rep."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"ref_12","first-page":"716","article-title":"Phenotypic variation in a family affected by autosomal dominant retinal dystrophy caused by the Gly208Asp mutation in the RDS peripherin gene","volume":"118","year":"2002","journal-title":"Med. Clin."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1002\/(SICI)1098-1004(1998)12:1<70::AID-HUMU11>3.0.CO;2-M","article-title":"Three novel RDS-peripherin mutations (689delT, 857del17, G208D) in Spanish families affected with autosomal dominant retinal degenerations. Mutations in brief no. 147. Online","volume":"12","author":"Trujillo","year":"1998","journal-title":"Hum. Mutat."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"2345","DOI":"10.1167\/iovs.18-23854","article-title":"Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families","volume":"59","author":"Zurita","year":"2018","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_15","first-page":"1031","article-title":"High prevalence of mutations in peripherin\/RDS in autosomal dominant macular dystrophies in a Spanish population","volume":"13","author":"Gamundi","year":"2007","journal-title":"Mol. Vis."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"645600","DOI":"10.3389\/fcell.2021.645600","article-title":"Updating the Genetic Landscape of Inherited Retinal Dystrophies","volume":"9","author":"Aller","year":"2021","journal-title":"Front. Cell Dev. Biol."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"158","DOI":"10.5935\/0004-2749.20190033","article-title":"Retinal dystrophies and variants in PRPH2","volume":"82","author":"Palma","year":"2019","journal-title":"Arq. Bras. Oftalmol."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1016\/j.ajo.2014.10.033","article-title":"High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features","volume":"159","author":"Manes","year":"2015","journal-title":"Am. J. Ophthalmol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"1514","DOI":"10.1002\/humu.24064","article-title":"Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9-year period","volume":"41","author":"Weisschuh","year":"2020","journal-title":"Hum. Mutat."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1136\/jmg.34.8.620","article-title":"RDS\/peripherin gene mutations are frequent causes of central retinal dystrophies","volume":"34","author":"Kohl","year":"1997","journal-title":"J. Med. Genet."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"4824","DOI":"10.1038\/s41598-018-22096-0","article-title":"Clinical and genetic characteristics of 251 consecutive patients with macular and cone\/cone-rod dystrophy","volume":"8","author":"Birtel","year":"2018","journal-title":"Sci. Rep."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"e1008409","DOI":"10.1371\/journal.pgen.1008409","article-title":"Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes","volume":"15","author":"Capalbo","year":"2019","journal-title":"PLoS Genet."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"1112270","DOI":"10.3389\/fcell.2023.1112270","article-title":"Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis","volume":"11","author":"Panneman","year":"2023","journal-title":"Front. Cell Dev. Biol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1111\/aos.14218","article-title":"Inherited retinal disease in Norway\u2014A characterization of current clinical and genetic knowledge","volume":"98","author":"Holtan","year":"2020","journal-title":"Acta Ophthalmol."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1038\/s41586-020-2434-2","article-title":"Whole-genome sequencing of patients with rare diseases in a national health system","volume":"583","author":"Turro","year":"2020","journal-title":"Nature"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/j.ajhg.2016.12.003","article-title":"Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease","volume":"100","author":"Carss","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"1557","DOI":"10.1167\/iovs.10-6549","article-title":"Cone structure in retinal degeneration associated with mutations in the peripherin\/RDS gene","volume":"52","author":"Duncan","year":"2011","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"1079","DOI":"10.1038\/s41436-020-0759-8","article-title":"Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations","volume":"22","author":"Zampaglione","year":"2020","journal-title":"Genet. Med."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"814","DOI":"10.1002\/ajmg.a.62045","article-title":"Stargardt misdiagnosis: How ocular genetics helps","volume":"185","author":"Ibanez","year":"2021","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"1659","DOI":"10.1097\/IAE.0b013e3182953df4","article-title":"Pachychoroid pigment epitheliopathy","volume":"33","author":"Warrow","year":"2013","journal-title":"Retina"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1097\/IAE.0000000000000331","article-title":"Pachychoroid neovasculopathy","volume":"35","author":"Pang","year":"2015","journal-title":"Retina"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"100201","DOI":"10.1016\/j.xops.2022.100201","article-title":"Natural Course of Pachychoroid Pigment Epitheliopathy","volume":"2","author":"Yagi","year":"2022","journal-title":"Ophthalmol. Sci."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1097\/IAE.0000000000000742","article-title":"En Face Imaging of Pachychoroid Spectrum Disorders with Swept-Source Optical Coherence Tomography","volume":"36","author":"Dansingani","year":"2016","journal-title":"Retina"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"100652","DOI":"10.1016\/j.xops.2024.100652","article-title":"Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of >3500 Patients with Inherited Retinal Disease from the United Kingdom","volume":"5","author":"Woof","year":"2025","journal-title":"Ophthalmol. Sci."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1097\/ICB.0000000000001325","article-title":"Multimodal Retinal Imaging Reveals New Pathogenic Insights in Central Areolar Choroidal Dystrophy: A Case Series","volume":"18","author":"Romano","year":"2024","journal-title":"Retin. Cases Brief Rep."}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/14\/14\/4893\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T18:07:42Z","timestamp":1760033262000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/14\/14\/4893"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7,10]]},"references-count":35,"journal-issue":{"issue":"14","published-online":{"date-parts":[[2025,7]]}},"alternative-id":["jcm14144893"],"URL":"https:\/\/doi.org\/10.3390\/jcm14144893","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,7,10]]}}}