{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T04:49:26Z","timestamp":1747198166133,"version":"3.40.5"},"reference-count":28,"publisher":"Walter de Gruyter GmbH","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,11,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2024-0261_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>The aim of the study was to investigate whether retinal neurovascular structural impairment in children with partial biotinidase deficiency (BD) could be detected early via optical coherence tomography (OCT) and OCT angiography (OCTA).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0261_abs_002\">\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Eighty patients with partial BD and 80 control cases without any known systemic or ocular diseases were enrolled in this prospective study. Retinal neurovascular structures in the macular and optic disc regions were examined in using OCT and OCTA. Data from subjects with partial BD were compared with data from healthy controls.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0261_abs_003\">\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>A statistically significant decrease in the vessel density (VD) was observed in both superior and inferior parts of the superficial capillary plexus (SCP) and the deep capillary plexus (DCP) in the partial BD patient group compared with the control group (p&lt;0.05). A significant decrease in the VD was also observed in the superior and inferior peripapillary SCP-DCP regions of the optic disc area in the patients with partial BD (p&lt;0.05). Both the superficial and deep foveal avascular zone (FAZ) areas were significantly enlarged in the partial BD group with respect to the control group (p=0.026, p=0.021 respectively).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0261_abs_004\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>In the partial BD patients, the vascular density in the macula and optic disc region is decreased in childhood, when compared to the control group. In patients with partial BD, it would be very useful to detect the early neurovascular changes that may occur during the course of the disease by means of a noninvasive technique such as OCTA.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2024-0261","type":"journal-article","created":{"date-parts":[[2024,9,19]],"date-time":"2024-09-19T05:50:30Z","timestamp":1726725030000},"page":"969-975","source":"Crossref","is-referenced-by-count":0,"title":["Alterations in optical coherence tomography and optical coherence tomography angiography findings in children with partial biotinidase deficiency"],"prefix":"10.1515","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4125-4819","authenticated-orcid":false,"given":"Gamze","family":"Karata\u015f","sequence":"first","affiliation":[{"name":"Department of Ophthalmology , Prof. Dr. Cemil Ta\u015fc\u0131o\u011flu City Hospital , Istanbul , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5880-283X","authenticated-orcid":false,"given":"Ak\u0131n","family":"\u00c7ak\u0131r","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology , Prof. Dr. Cemil Ta\u015fc\u0131o\u011flu City Hospital , Istanbul , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2036-4082","authenticated-orcid":false,"given":"Nafiye Emel","family":"\u00c7akar","sequence":"additional","affiliation":[{"name":"Departments of Pediatric Metabolism , Prof. Dr. Cemil Ta\u015fc\u0131o\u011flu City Hospital , Istanbul , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-3804-4316","authenticated-orcid":false,"given":"Derya","family":"\u00c7epni \u00c7ak\u0131r","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology , Prof. Dr. Cemil Ta\u015fc\u0131o\u011flu City Hospital , Istanbul , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7346-164X","authenticated-orcid":false,"given":"Mehmet Egemen","family":"Karata\u015f","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology , \u015ei\u015fli Hamidiye Etfal Training and Research Hospital , Istanbul , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-8728-4231","authenticated-orcid":false,"given":"Ozan","family":"Akpunar","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology , Prof. Dr. Cemil Ta\u015fc\u0131o\u011flu City Hospital , Istanbul , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4032-4467","authenticated-orcid":false,"given":"Asl\u0131","family":"K\u0131rmac\u0131 Kabakc\u0131","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology , Prof. Dr. Cemil Ta\u015fc\u0131o\u011flu City Hospital , Istanbul , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6575-9825","authenticated-orcid":false,"given":"Dilan","family":"Y\u0131ld\u0131z","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology , Prof. Dr. Cemil Ta\u015fc\u0131o\u011flu City Hospital , Istanbul , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2024,9,20]]},"reference":[{"key":"2024111114160034824_j_jpem-2024-0261_ref_001","doi-asserted-by":"crossref","unstructured":"Wolf, B, Grier, RE, Allen, RJ, Goodman, SI, Kien, CL. Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency. Clin Chim Acta 1983;131:273\u201381. https:\/\/doi.org\/10.1016\/0009-8981(83)90096-7.","DOI":"10.1016\/0009-8981(83)90096-7"},{"key":"2024111114160034824_j_jpem-2024-0261_ref_002","doi-asserted-by":"crossref","unstructured":"Wolf, B, Heard, GS, Weissbecker, KA, McVoy, JR, Grier, RE, Leshner, RT. Biotinidase deficiency: initial clinical features and rapid diagnosis. Ann Neurol 1985;18:614\u201317. https:\/\/doi.org\/10.1002\/ana.410180517.","DOI":"10.1002\/ana.410180517"},{"key":"2024111114160034824_j_jpem-2024-0261_ref_003","unstructured":"Canda, E, Kalkan U\u00e7ar, S, \u00c7oker, M. Biotinidase deficiency: prevalence, impact and management strategies. Pediatr Health Med Therapeut 2020;11:127\u201333. https:\/\/doi.org\/10.2147\/PHMT.S198656. Published 2020 May 4."},{"key":"2024111114160034824_j_jpem-2024-0261_ref_004","doi-asserted-by":"crossref","unstructured":"Semeraro, D, Verrocchio, S, Di Dalmazi, G, Rossi, C, Pieragostino, D, Cicalini, I, et al.. High incidence of partial biotinidase deficiency in the first 3 Years of a regional newborn screening program in Italy. Int J Environ Res Publ Health 2022;19:8141. https:\/\/doi.org\/10.3390\/ijerph19138141. Published 2022 Jul 2.","DOI":"10.3390\/ijerph19138141"},{"key":"2024111114160034824_j_jpem-2024-0261_ref_005","doi-asserted-by":"crossref","unstructured":"Wolf, B. Clinical issues and frequent questions about biotinidase deficiency. Mol Genet Metab 2010;100:6\u201313. https:\/\/doi.org\/10.1016\/j.ymgme.2010.01.003.","DOI":"10.1016\/j.ymgme.2010.01.003"},{"key":"2024111114160034824_j_jpem-2024-0261_ref_006","doi-asserted-by":"crossref","unstructured":"Karaca, M, \u00d6zg\u00fcl, RK, \u00dcnal, \u00d6, Y\u00fccel-Y\u0131lmaz, D, K\u0131l\u0131\u00e7, M, Hi\u015fmi, B, et al.. Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening. Eur J Pediatr 2015;174:1077\u201384. https:\/\/doi.org\/10.1007\/s00431-015-2509-5.","DOI":"10.1007\/s00431-015-2509-5"},{"key":"2024111114160034824_j_jpem-2024-0261_ref_007","doi-asserted-by":"crossref","unstructured":"Baykal, T, H\u00fcner, G, Sarbat, G, Demirkol, M. Incidence of biotinidase deficiency in Turkish newborns. Acta Paediatr 1998;87:1102\u20133. https:\/\/doi.org\/10.1080\/080352598750031518.","DOI":"10.1111\/j.1651-2227.1998.tb01427.x"},{"key":"2024111114160034824_j_jpem-2024-0261_ref_008","doi-asserted-by":"crossref","unstructured":"Salbert, BA, Astruc, J, Wolf, B. Ophthalmologic findings in biotinidase deficiency. Ophthalmologica. 1993;206:177\u201381. https:\/\/doi.org\/10.1159\/000310387.","DOI":"10.1159\/000310387"},{"key":"2024111114160034824_j_jpem-2024-0261_ref_009","unstructured":"Ma, J, Zhu, TP, Zhang, QR, Ou, HL. The effect of vascular endothelial growth factor and hypoxia on the secretion of opticin in retinal pigment epithelium cells. Chin J Ophthalmol 2011;47:1012\u201318."},{"key":"2024111114160034824_j_jpem-2024-0261_ref_010","doi-asserted-by":"crossref","unstructured":"May, WB. Clinical issues and frequent questions about biotinidase deficiency. Mol Genet Metabol 2010;100:6\u201313. https:\/\/doi.org\/10.1016\/j.ymgme.2010.01.003.","DOI":"10.1016\/j.ymgme.2010.01.003"},{"key":"2024111114160034824_j_jpem-2024-0261_ref_011","doi-asserted-by":"crossref","unstructured":"Fern\u00e1ndez-Vigo, JI, Kudsieh, B, Macarro-Merino, A, Arriola-Villalobos, P, Mart\u00ednez-de-la-Casa, JM, Garc\u00eda-Feij\u00f3o, J, et al.. Reproducibility of macular and optic nerve head vessel density measurements by swept-source optical coherence tomography angiography. Eur J Ophthalmol 2020;30:756\u201363. https:\/\/doi.org\/10.1177\/1120672119834472.","DOI":"10.1177\/1120672119834472"},{"key":"2024111114160034824_j_jpem-2024-0261_ref_012","doi-asserted-by":"crossref","unstructured":"Dursun, ME, Hazar, L, Karahan, M, Erdem, S, Ava, S, \u00dczel, VH, et al.. Evaluation of parafoveal and peripapillary vascular densities using optical coherence tomography angiography in children with thalassemia major. Therapeutic Adv Ophthalmol 2023;15. https:\/\/doi.org\/10.1177\/25158414231162846.","DOI":"10.1177\/25158414231162846"},{"key":"2024111114160034824_j_jpem-2024-0261_ref_013","doi-asserted-by":"crossref","unstructured":"Inanc, M, Tekin, K, Kiziltoprak, H, Ozalkak, S, Doguizi, S, Aycan, Z. Changes in retinal microcirculation precede the clinical onset of diabetic retinopathy in children with type 1 diabetes mellitus. Am J Ophthalmol 2019;207:37\u201344. https:\/\/doi.org\/10.1016\/j.ajo.2019.04.011.","DOI":"10.1016\/j.ajo.2019.04.011"},{"key":"2024111114160034824_j_jpem-2024-0261_ref_014","doi-asserted-by":"crossref","unstructured":"Simonett, JM, Scarinci, F, Picconi, F, Giorno, P, De Geronimo, D, Di Renzo, A, et al.. Early microvascular retinal changes in optical coherence tomography angiography in patients with type 1 diabetes mellitus. Acta Ophthalmol 2017;95:e751\u20135. https:\/\/doi.org\/10.1111\/aos.13404.","DOI":"10.1111\/aos.13404"},{"key":"2024111114160034824_j_jpem-2024-0261_ref_015","doi-asserted-by":"crossref","unstructured":"Carnevali, A, Sacconi, R, Corbelli, E, Tomasso, L, Querques, L, Zerbini, G, et al.. Optical coherence tomography angiography analysis of retinal vascular plexuses and choriocapillaris in patients with type 1 diabetes without diabetic retinopathy. Acta Diabetol 2017;54:695\u2013702. https:\/\/doi.org\/10.1007\/s00592-017-0996-8.","DOI":"10.1007\/s00592-017-0996-8"},{"key":"2024111114160034824_j_jpem-2024-0261_ref_016","doi-asserted-by":"crossref","unstructured":"Furino, C, Montrone, G, Cicinelli, MV, Balestra, S, Grassi, MO, Reibaldi, M, et al.. Optical coherence tomography angiography in diabetic patients without diabetic retinopathy. Eur J Ophthalmol 2020;30:1418\u201323. https:\/\/doi.org\/10.1177\/1120672119895701.","DOI":"10.1177\/1120672119895701"},{"key":"2024111114160034824_j_jpem-2024-0261_ref_017","doi-asserted-by":"crossref","unstructured":"Romano, F, Arrigo, A, Leone, PP, Saladino, A, Bandello, F, Battaglia Parodi, M. Altered ellipsoid zone reflectivity and deep capillary plexus rarefaction correlate with progression in Best disease. Br J Ophthalmol 2020;104:461\u20135. https:\/\/doi.org\/10.1136\/bjophthalmol-2019-313980.","DOI":"10.1136\/bjophthalmol-2019-313980"},{"key":"2024111114160034824_j_jpem-2024-0261_ref_018","doi-asserted-by":"crossref","unstructured":"Spaide, RF. Measurable aspects of the retinal neurovascular unit in diabetes, glaucoma, and controls. Am J Ophthalmol 2019;207:395\u2013409. https:\/\/doi.org\/10.1016\/j.ajo.2019.04.035.","DOI":"10.1016\/j.ajo.2019.04.035"},{"key":"2024111114160034824_j_jpem-2024-0261_ref_019","doi-asserted-by":"crossref","unstructured":"Vujosevic, S, Muraca, A, Gatti, V, Masoero, L, Brambilla, M, Cannillo, B, et al.. Peripapillary microvascular and neural changes in diabetes mellitus: an OCT-angiography study. Invest Ophthalmol Vis Sci. 2018;59:5074\u201381. https:\/\/doi.org\/10.1167\/iovs.18-24891.","DOI":"10.1167\/iovs.18-24891"},{"key":"2024111114160034824_j_jpem-2024-0261_ref_020","doi-asserted-by":"crossref","unstructured":"Demir, ST, Ucar, A, Elitok, GK, Karatas, ME, Karapapak, M, Kutucu, OK, et al.. Evaluation of retinal neurovascular structures by optical coherence tomography and optical coherence tomography angiography in children and adolescents with type 1 diabetes mellitus without clinical sign of diabetic retinopathy. Graefes Arch Clin Exp Ophthalmol 2020;258:2363\u201372. https:\/\/doi.org\/10.1007\/s00417-020-04842-1.","DOI":"10.1007\/s00417-020-04842-1"},{"key":"2024111114160034824_j_jpem-2024-0261_ref_021","doi-asserted-by":"crossref","unstructured":"Shin, YI, Nam, KY, Lee, SE, Lee, MW, Lim, HB, Jo, YJ, et al.. Peripapillary microvasculature in patients with diabetes mellitus: an optical coherence tomography angiography study. Sci Rep 2019;9:15814. https:\/\/doi.org\/10.1038\/s41598-019-52354-8.","DOI":"10.1038\/s41598-019-52354-8"},{"key":"2024111114160034824_j_jpem-2024-0261_ref_022","doi-asserted-by":"crossref","unstructured":"Comba, \u00d6BMD, Karakaya, MMD, Albayrak, SMD, Yal\u00e7\u0131n, EMD. Early-term optical coherence tomography angiographic findings in pediatric patients infected with COVID-19. Ocular Immunol Inflamm 2023;31:338\u201342. https:\/\/doi.org\/10.1080\/09273948.2022.2027470.","DOI":"10.1080\/09273948.2022.2027470"},{"key":"2024111114160034824_j_jpem-2024-0261_ref_023","doi-asserted-by":"crossref","unstructured":"Cennamo, G, Montorio, D, Mazzella, G, Ricchi, P, Costantini, S, Spasiano, A, et al.. Retinal and choriocapillaris vascular changes in patients affected by different clinical phenotypes of \u03b2-thalassemia: an optical coherence tomography angiography study. Biology (Basel). 2021;10:276. https:\/\/doi.org\/10.3390\/biology10040276. Published 2021 Mar 28.","DOI":"10.3390\/biology10040276"},{"key":"2024111114160034824_j_jpem-2024-0261_ref_024","doi-asserted-by":"crossref","unstructured":"Samara, WA, Say, EA, Khoo, CT, Higgins, TP, Magrath, G, Ferenczy, S, et al.. Correlat\u0131on of foveal avascular zone s\u0131ze w\u0131th foveal morphology in normal eyes us\u0131ng opt\u0131cal coherence tomography ang\u0131ography. Retina 2015;35:2188\u201395. https:\/\/doi.org\/10.1097\/IAE.0000000000000847.","DOI":"10.1097\/IAE.0000000000000847"},{"key":"2024111114160034824_j_jpem-2024-0261_ref_025","doi-asserted-by":"crossref","unstructured":"Bates, NM, Tian, J, Smiddy, WE, Lee, WH, Somfai, GM, Feuer, WJ, et al..\u00a0Relationship between the morphology of the foveal avascular\u00a0zone, retinal structure, and macular circulation in patients with diabetes mellitus. Sci Rep 2018;8:5355. https:\/\/doi.org\/10.1038\/s41598-018-23604-y. Published 2018 Mar 29.","DOI":"10.1038\/s41598-018-23604-y"},{"key":"2024111114160034824_j_jpem-2024-0261_ref_026","unstructured":"Kang, Z, Yang, H. Zhonghua yan ke za zhi. Choroidal thickness in preschool children. Chin J Ophthalmol 2019;55:111\u201314. https:\/\/doi.org\/10.3760\/cma.j.issn.0412-4081.2019.02.008."},{"key":"2024111114160034824_j_jpem-2024-0261_ref_027","doi-asserted-by":"crossref","unstructured":"El-Shazly, AA, Elkitkat, RS, Ebeid, WM, Deghedy, MR. Correlat\u0131on between subfoveal choro\u0131dal th\u0131ckness and foveal th\u0131ckness in thalassem\u0131c pat\u0131ents. Retina 2016;36:1767\u201372. https:\/\/doi.org\/10.1097\/IAE.0000000000000970.","DOI":"10.1097\/IAE.0000000000000970"},{"key":"2024111114160034824_j_jpem-2024-0261_ref_028","doi-asserted-by":"crossref","unstructured":"Acer, S, Balc\u0131, YI, Pekel, G, Ongun, TT, Polat, A, \u00c7etin, EN, et al.. Retinal nerve fiber layer thickness and retinal vessel calibers in children with thalassemia minor. SAGE Open Med 2016;4. https:\/\/doi.org\/10.1177\/2050312116661683. Published 2016 Aug 2.","DOI":"10.1177\/2050312116661683"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2024-0261\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2024-0261\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,11]],"date-time":"2024-11-11T14:17:00Z","timestamp":1731334620000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2024-0261\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9,20]]},"references-count":28,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2024,9,20]]},"published-print":{"date-parts":[[2024,11,26]]}},"alternative-id":["10.1515\/jpem-2024-0261"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2024-0261","relation":{},"ISSN":["0334-018X","2191-0251"],"issn-type":[{"type":"print","value":"0334-018X"},{"type":"electronic","value":"2191-0251"}],"subject":[],"published":{"date-parts":[[2024,9,20]]}}}