{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T13:41:23Z","timestamp":1762868483349,"version":"build-2065373602"},"reference-count":50,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2021,4,26]],"date-time":"2021-04-26T00:00:00Z","timestamp":1619395200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Ministerio de Ciencia e Innovaci\u00f3n, Spain","award":["FEDER- PID2019-106230RB-I00, RD16\/0008\/0001"],"award-info":[{"award-number":["FEDER- PID2019-106230RB-I00, RD16\/0008\/0001"]}]},{"name":"Ministerio de Universidades, Spain","award":["FPU16\/04114, FPU18\/02964"],"award-info":[{"award-number":["FPU16\/04114, FPU18\/02964"]}]},{"name":"Instituto de Salud Carlos III","award":["RETICS-FEDER RD16\/0008\/0016"],"award-info":[{"award-number":["RETICS-FEDER RD16\/0008\/0016"]}]},{"name":"Asociaci\u00f3n Retina Asturias\/Cantabria","award":["-"],"award-info":[{"award-number":["-"]}]},{"name":"FARPE-FUNDALUCE","award":["-"],"award-info":[{"award-number":["-"]}]},{"name":"Generalitat Valenciana","award":["IDIFEDER\/2017\/064"],"award-info":[{"award-number":["IDIFEDER\/2017\/064"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Choroidal dystrophies comprise a group of chorioretinal degenerations. However, the different findings observed among these patients make it difficult to establish a correct clinical diagnosis. The objective of this study was to characterize new clinical findings by optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA) in these patients. Four family members with a PRPH2 gene mutation (p.Arg195Leu) were included. OCT was performed at the macula, and the thickness of the outer and inner retina, total retina, and choroid was measured. The features of the vascular network were analyzed by OCTA. Patients showed a decreased outer nuclear layer in the avascular area compared with the controls. Two patients presented greater foveal and parafoveal degeneration of the outer retina, whereas the most degenerated area in the rest was the perifovea. Disruption of the third outer band at the foveola is one of the first-altered outer bands. Slow blood flow areas or capillary dropout were main signs in the deep capillary plexus. Microaneurysms were frequently observed in less degenerated retinas. Vascular loops and intraretinal microvascular abnormalities (IRMAs) were present in the superficial plexus. Extensive degeneration of the choriocapillaris was detected. Phenotypic differences were found between patients: two showed central areolar choroidal dystrophy and the rest had extensive chorioretinal atrophy. These signs observed in OCT and OCTA can help to more appropriately define the clinical disease in patients with choroidal dystrophies.<\/jats:p>","DOI":"10.3390\/diagnostics11050777","type":"journal-article","created":{"date-parts":[[2021,4,27]],"date-time":"2021-04-27T02:31:43Z","timestamp":1619490703000},"page":"777","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Phenotypic Differences in a PRPH2 Mutation in Members of the Same Family Assessed with OCT and OCTA"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8656-9887","authenticated-orcid":false,"given":"Henar","family":"Albertos-Arranz","sequence":"first","affiliation":[{"name":"Department of Physiology, Genetics and Microbiology, University of Alicante, 03690 Alicante, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5128-0979","authenticated-orcid":false,"given":"Xavier","family":"S\u00e1nchez-S\u00e1ez","sequence":"additional","affiliation":[{"name":"Department of Physiology, Genetics and Microbiology, University of Alicante, 03690 Alicante, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8882-5602","authenticated-orcid":false,"given":"Natalia","family":"Mart\u00ednez-Gil","sequence":"additional","affiliation":[{"name":"Department of Physiology, Genetics and Microbiology, University of Alicante, 03690 Alicante, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0349-9997","authenticated-orcid":false,"given":"Isabel","family":"Pinilla","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Aragon Health Science Institute (IIS Arag\u00f3n), Lozano Blesa University Hospital, 50009 Zaragoza, Spain"},{"name":"National Institute of Health Carlos III (ISCIII), (RETICS) Cooperative Health Network for Research in Ophthalmology (Oftared), 28040 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1811-1417","authenticated-orcid":false,"given":"Rosa M.","family":"Coco-Martin","sequence":"additional","affiliation":[{"name":"National Institute of Health Carlos III (ISCIII), (RETICS) Cooperative Health Network for Research in Ophthalmology (Oftared), 28040 Madrid, Spain"},{"name":"Institute of Applied Ophthalmobiology (IOBA), Medical School, University of Valladolid, 47011 Valladolid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jes\u00fas","family":"Delgado","sequence":"additional","affiliation":[{"name":"ES Retina Asturias Association, 33212 Gij\u00f3n, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6767-5710","authenticated-orcid":false,"given":"Nicol\u00e1s","family":"Cuenca","sequence":"additional","affiliation":[{"name":"Department of Physiology, Genetics and Microbiology, University of Alicante, 03690 Alicante, Spain"},{"name":"National Institute of Health Carlos III (ISCIII), (RETICS) Cooperative Health Network for Research in Ophthalmology (Oftared), 28040 Madrid, Spain"},{"name":"San Vicente del Raspeig Campus, Ram\u00f3n Margalef Institute, University of Alicante, 03690 Alicante, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,4,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Genead, M.A., Fishman, G.A., and Grover, S. 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