{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:24:21Z","timestamp":1760145861549,"version":"build-2065373602"},"reference-count":47,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2024,9,11]],"date-time":"2024-09-11T00:00:00Z","timestamp":1726012800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Eye Institute","award":["EYOOO272","7192039"],"award-info":[{"award-number":["EYOOO272","7192039"]}]},{"name":"Beijing Municipal Natural Science Foundation","award":["EYOOO272","7192039"],"award-info":[{"award-number":["EYOOO272","7192039"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Purpose: To delineate the genotype and phenotype of RH in a Chinese cohort. Methods: A group of 51 Chinese probands with RH across 76 eyes was assembled and underwent complete retinal imaging examinations. Sanger sequencing and universal primer quantitative fluorescent multiplex\u2013polymerase chain reaction (UPQFM-PCR) were employed for mutation detection in the coding region of the Von Hippel\u2013Lindal (VHL) gene. For frequency calculation, our series was combined with three large cohorts of East Asian descent through a literature review. Results: The Von Hippel\u2013Lindal (VHL) syndrome was excluded in fifteen patients (median age: 32.00 years) with unilateral solitary RH. Thirty-six patients of younger ages (median: 22.00 years, p = 0.008, Mann\u2013Whitney test) conformed to the diagnostic criteria of the VHL syndrome, and thirty-four patients were genetically confirmed. There were four novel variants identified in the VHL gene. Codons 167, 161 and 86 exhibited a mutation occurrence of more than 5% after pooling with literature data, and the large genomic deletion demonstrated a frequency of 17.65%. The RHs were classified as \u201cextrapapillary\u201d, \u201cjuxtapapillary\u201d and \u201cmixed\u201d types in 53, 7 and 5 eyes, respectively. Almost all extrapapillary RH lesions were found in the peripheral retina. Hemangioblastomas in the central nervous system (CNS) were observed in 25 out of 31 kindreds (80.65%) with full systemic evaluation data. Conclusions: VHL-associated RH might exhibit earlier onset than non-VHL RH. Large genomic deletions were observed at a notably high frequency in the Chinese series with VHL-associated RH, which might be associated with East Asian ethnicity background. RH could potentially serve as an early indicator of CNS hemangioblastoma.<\/jats:p>","DOI":"10.3390\/genes15091192","type":"journal-article","created":{"date-parts":[[2024,9,11]],"date-time":"2024-09-11T05:45:12Z","timestamp":1726033512000},"page":"1192","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Phenotypic and Genotypic Features of a Chinese Cohort with Retinal Hemangioblastoma"],"prefix":"10.3390","volume":"15","author":[{"given":"Liqin","family":"Gao","sequence":"first","affiliation":[{"name":"Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Key Laboratory of Ophthalmology and Visual Sciences, No.1 Dongjiaominxiang, Beijing 100730, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Feng","family":"Zhang","sequence":"additional","affiliation":[{"name":"Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Key Laboratory of Ophthalmology and Visual Sciences, No.1 Dongjiaominxiang, Beijing 100730, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4788-0362","authenticated-orcid":false,"given":"J. Fielding","family":"Hejtmancik","sequence":"additional","affiliation":[{"name":"Ophthalmic Molecular Genetics Section, Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Rockville, MD 20892, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaodong","family":"Jiao","sequence":"additional","affiliation":[{"name":"Ophthalmic Molecular Genetics Section, Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Rockville, MD 20892, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liyun","family":"Jia","sequence":"additional","affiliation":[{"name":"Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Key Laboratory of Ophthalmology and Visual Sciences, No.1 Dongjiaominxiang, Beijing 100730, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4275-6856","authenticated-orcid":false,"given":"Xiaoyan","family":"Peng","sequence":"additional","affiliation":[{"name":"Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Key Laboratory of Ophthalmology and Visual Sciences, No.1 Dongjiaominxiang, Beijing 100730, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kai","family":"Ma","sequence":"additional","affiliation":[{"name":"Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Key Laboratory of Ophthalmology and Visual Sciences, No.1 Dongjiaominxiang, Beijing 100730, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0613-9591","authenticated-orcid":false,"given":"Qian","family":"Li","sequence":"additional","affiliation":[{"name":"Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Key Laboratory of Ophthalmology and Visual Sciences, No.1 Dongjiaominxiang, Beijing 100730, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,9,11]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1097\/01.iae.0000244659.62202.ee","article-title":"Molecular pathology of eyes with von Hippel-Lindau (VHL) Disease: A review","volume":"27","author":"Chan","year":"2007","journal-title":"Retina"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1136\/bjophthalmol-2019-314021","article-title":"Retinal haemangioblastoma associated with peripheral non-perfusion: Widefield fluorescein angiography analysis of 41 cases","volume":"104","author":"Dalvin","year":"2020","journal-title":"Br. 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