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USA","award":["R24EY027285"],"award-info":[{"award-number":["R24EY027285"]}]},{"name":"unrestricted funds from RPB, New York, NY, USA","award":["R01EY033770"],"award-info":[{"award-number":["R01EY033770"]}]},{"name":"unrestricted funds from RPB, New York, NY, USA","award":["R01EY018213"],"award-info":[{"award-number":["R01EY018213"]}]},{"name":"unrestricted funds from RPB, New York, NY, USA","award":["R01EY024698"],"award-info":[{"award-number":["R01EY024698"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Introduction: Congenital hypertrophy of the retinal pigment epithelium (CHRPE) is a benign proliferation of the melanin-producing retinal pigment epithelium (RPE). Although often a benign and incidental finding, multifocal CHRPE may mimic lesions associated with familial adenomatous polyposis (FAP). Case Description: We describe an 8-year-old girl presenting with optic disc pallor and widespread multifocal bear track CHRPE observed bilaterally on dilated fundoscopy. Fundus autofluorescence (FAF) imaging showed uniform areas of hypoautofluorescence corresponding to the bear track lesions. Spectral domain optical coherence tomography (SD-OCT) demonstrated normal lamination without atrophy. The full-field electroretinogram (ffERG) was within normal limits. Whole-genome sequencing (WGS) revealed a likely pathogenic heterozygous variant in the STAG2 gene (c.3222dup, p.Ser1075IlefsTer12). Conclusions: We present a rare case of bilateral, panretinal bear track CHRPE in a child with a likely pathogenic variant in STAG2. Using multimodal imaging, we contrast bear track lesions of the retina with FAP-associated CHRPE. We also present possible ophthalmic manifestations in carriers of pathogenic STAG2 variants.<\/jats:p>","DOI":"10.3390\/jcm14176110","type":"journal-article","created":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T09:08:52Z","timestamp":1756458532000},"page":"6110","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Panretinal Congenital Hypertrophy of the RPE in an 8-Year-Old Girl with an X-Linked STAG2 Mutation"],"prefix":"10.3390","volume":"14","author":[{"given":"Maximilian D.","family":"Kong","sequence":"first","affiliation":[{"name":"Edward S. Harkness Eye Institute, Department of Ophthalmology, Columbia University Irving Medical Center, New York-Presbyterian Hospital, New York, NY 10032, USA"},{"name":"Jonas Children\u2019s Vision Care, and Bernard & Shirlee Brown Glaucoma Laboratory, Department of Ophthalmology, Columbia University, New York, NY 10032, USA"},{"name":"College of Medicine, SUNY Downstate Health Sciences University, Brooklyn, NY 11203, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed M.","family":"Sylla","sequence":"additional","affiliation":[{"name":"Edward S. Harkness Eye Institute, Department of Ophthalmology, Columbia University Irving Medical Center, New York-Presbyterian Hospital, New York, NY 10032, USA"},{"name":"Jonas Children\u2019s Vision Care, and Bernard & Shirlee Brown Glaucoma Laboratory, Department of Ophthalmology, Columbia University, New York, NY 10032, USA"},{"name":"College of Medicine, SUNY Downstate Health Sciences University, Brooklyn, NY 11203, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin Kyun","family":"Oh","sequence":"additional","affiliation":[{"name":"Edward S. Harkness Eye Institute, Department of Ophthalmology, Columbia University Irving Medical Center, New York-Presbyterian Hospital, New York, NY 10032, USA"},{"name":"Jonas Children\u2019s Vision Care, and Bernard & Shirlee Brown Glaucoma Laboratory, Department of Ophthalmology, Columbia University, New York, NY 10032, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vaidehi S.","family":"Dedania","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, NYU Grossman School of Medicine, New York, NY 10016, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megan","family":"Soucy","sequence":"additional","affiliation":[{"name":"Edward S. 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Ophthalmol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"100524","DOI":"10.1016\/j.ajoc.2019.100524","article-title":"The link between colon cancer and congenital hypertrophy of the retinal pigment epithelium (CHRPE)","volume":"15","author":"Deibert","year":"2019","journal-title":"Am. J. Ophthalmol. Case Rep."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1111\/j.1475-1313.2007.00513.x","article-title":"Congenital hypertrophy of the retinal pigment epithelium: Prevalence and ocular features in the optometric population","volume":"27","author":"Coleman","year":"2007","journal-title":"Ophthalmic Physiol. Opt."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1016\/S0161-6420(93)31635-0","article-title":"Histopathologic findings in congenital grouped pigmentation of the retina","volume":"100","author":"Regillo","year":"1993","journal-title":"Ophthalmology"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1016\/S0002-9394(14)77880-8","article-title":"A clinicopathologic study of the eyes in familial adenomatous polyposis with extracolonic manifestations (Gardner\u2019s syndrome)","volume":"110","author":"Traboulsi","year":"1990","journal-title":"Am. J. Ophthalmol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1007\/BF00211023","article-title":"Genotype-phenotype correlation between position of constitutional APC gene mutation and CHRPE expression in familial adenomatous polyposis","volume":"94","author":"Wallis","year":"1994","journal-title":"Hum. Genet."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"2631","DOI":"10.1093\/brain\/awz210","article-title":"Cohesin complex-associated holoprosencephaly","volume":"142","author":"Kruszka","year":"2019","journal-title":"Brain"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1007\/978-1-4939-0888-2_11","article-title":"The roles of cohesins in mitosis, meiosis, and human health and disease","volume":"1170","author":"Brooker","year":"2014","journal-title":"Methods Mol. Biol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"7171","DOI":"10.1093\/hmg\/ddv414","article-title":"Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems","volume":"24","author":"Kumar","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s10633-017-9621-y","article-title":"ISCEV guide to visual electrodiagnostic procedures","volume":"136","author":"Robson","year":"2018","journal-title":"Doc. Ophthalmol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1016\/0002-9394(88)90241-3","article-title":"Narrow-band filtering for monitoring low-amplitude cone electroretinograms in retinitis pigmentosa","volume":"105","author":"Andreasson","year":"1988","journal-title":"Am. J. Ophthalmol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1001\/archopht.1993.01090060049022","article-title":"A randomized trial of vitamin A and vitamin E supplementation for retinitis pigmentosa","volume":"111","author":"Berson","year":"1993","journal-title":"Arch. Ophthalmol."},{"key":"ref_13","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_14","doi-asserted-by":"crossref","first-page":"1012","DOI":"10.1002\/humu.24309","article-title":"Variant interpretation using population databases: Lessons from gnomAD","volume":"43","author":"Gudmundsson","year":"2022","journal-title":"Hum. Mutat."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"D1143","DOI":"10.1093\/nar\/gkad989","article-title":"CADD v1.7: Using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions","volume":"52","author":"Schubach","year":"2024","journal-title":"Nucleic Acids Res."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"1319","DOI":"10.1002\/ajmg.a.38207","article-title":"De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies","volume":"173","author":"Mullegama","year":"2017","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1038\/s41436-018-0085-6","article-title":"Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies","volume":"21","author":"Yuan","year":"2019","journal-title":"Genet. Med."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1038\/s41439-020-00114-w","article-title":"Nonsense variants of STAG2 result in distinct congenital anomalies","volume":"7","author":"Aoi","year":"2020","journal-title":"Hum. Genome Var."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"103875","DOI":"10.1016\/j.ejmg.2020.103875","article-title":"Next-generation sequencing in prenatal setting: Some examples of unexpected variant association","volume":"63","author":"Rinaldi","year":"2020","journal-title":"Eur. J. Med. Genet."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1038\/s41439-021-00169-3","article-title":"Expanding the known phenotype of Mullegama-Klein-Martinez syndrome in male patients","volume":"8","author":"Freyberger","year":"2021","journal-title":"Hum. Genome Var."},{"key":"ref_21","doi-asserted-by":"crossref","unstructured":"Schmidt, J., Dreha-Kulaczewski, S., Zafeiriou, M.P., Schreiber, M.K., Wilken, B., Funke, R., Neuhofer, C.M., Altmuller, J., Thiele, H., and Nurnberg, P. (2022). Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum. Front. Cell Dev. Biol., 10.","DOI":"10.3389\/fcell.2022.1025332"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1016\/j.oret.2018.01.008","article-title":"Extensive Grouped Congenital Hypertrophy of the Retinal Pigment Epithelium","volume":"2","author":"Comaratta","year":"2018","journal-title":"Ophthalmol. Retina"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"124","DOI":"10.3928\/23258160-20200129-10","article-title":"Pigmented Ocular Fundus Lesions Associated with Familial Adenomatous Polyposis","volume":"51","author":"Li","year":"2020","journal-title":"Ophthalmic Surg. Lasers Imaging Retin."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"844","DOI":"10.1097\/OPX.0000000000000640","article-title":"Pigmented Lesions of the Retinal Pigment Epithelium","volume":"92","author":"Ly","year":"2015","journal-title":"Optom. Vis. Sci."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1016\/j.ohc.2004.08.003","article-title":"Ocular manifestations of familial adenomatous polyposis (Gardner syndrome)","volume":"18","author":"Traboulsi","year":"2005","journal-title":"Ophthalmol. Clin. N. Am."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"1968","DOI":"10.1016\/S0161-6420(03)00618-3","article-title":"Solitary congenital hypertrophy of the retinal pigment epithelium: Clinical features and frequency of enlargement in 330 patients","volume":"110","author":"Shields","year":"2003","journal-title":"Ophthalmology"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1097\/00006982-199401000-00002","article-title":"Congenital hypertrophy of the retinal pigment epithelium associated with familial adenomatous polyposis","volume":"14","author":"Santos","year":"1994","journal-title":"Retina"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1016\/j.ophtha.2005.10.057","article-title":"Photoreceptor loss overlying congenital hypertrophy of the retinal pigment epithelium by optical coherence tomography","volume":"113","author":"Shields","year":"2006","journal-title":"Ophthalmology"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1016\/j.jaapos.2020.08.003","article-title":"Diffuse bear-track retina: Profound, bilateral, grouped congenital pigmentation of the retinal pigment epithelium in an infant","volume":"24","author":"Marmoy","year":"2020","journal-title":"J. AAPOS"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"2828","DOI":"10.1080\/15384101.2019.1658476","article-title":"The expanding phenotypes of cohesinopathies: One ring to rule them all!","volume":"18","author":"Piche","year":"2019","journal-title":"Cell Cycle"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1038\/s41576-018-0031-0","article-title":"Diagnosis and management of Cornelia de Lange syndrome: First international consensus statement","volume":"19","author":"Kline","year":"2018","journal-title":"Nat. Rev. Genet."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1111\/j.1749-6632.2008.03450.x","article-title":"On the molecular etiology of Cornelia de Lange syndrome","volume":"1151","author":"Dorsett","year":"2009","journal-title":"Ann. N. Y. Acad. Sci."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"e63577","DOI":"10.1002\/ajmg.a.63577","article-title":"SMC1A epilepsy syndrome: Clinical data from a large international cohort","volume":"194","author":"Gibellato","year":"2024","journal-title":"Am. J. Med. Genet. A"}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/14\/17\/6110\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T18:35:03Z","timestamp":1760034903000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/14\/17\/6110"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8,29]]},"references-count":33,"journal-issue":{"issue":"17","published-online":{"date-parts":[[2025,9]]}},"alternative-id":["jcm14176110"],"URL":"https:\/\/doi.org\/10.3390\/jcm14176110","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,8,29]]}}}