{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,25]],"date-time":"2026-04-25T04:44:21Z","timestamp":1777092261895,"version":"3.51.4"},"reference-count":23,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2026,4,21]],"date-time":"2026-04-21T00:00:00Z","timestamp":1776729600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>The term \u201cchildhood glaucoma\u201d summarizes a heterogeneous group of diseases characterized by elevated intraocular pressure and associated optic nerve damage. Secondary glaucoma may develop based on non-acquired ocular anomalies, the most common of which are anterior segment dysgeneses. We present a rare case of infantile childhood glaucoma resulting from anterior segment dysgenesis due to a homozygous mutation c.1881delG, p.(Arg627Serfs*6), leading to loss of function in the CPAMD8 gene.<\/jats:p>","DOI":"10.3390\/genes17040494","type":"journal-article","created":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T09:01:24Z","timestamp":1776848484000},"page":"494","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Rare Case of Childhood Glaucoma Resulting from Anterior Segment Dysgenesis Associated with a Homozygous Mutation in the CPAMD8 Gene"],"prefix":"10.3390","volume":"17","author":[{"given":"Nevyana","family":"Veleva-Krasteva","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Medical Faculty, Medical University of Sofia, 1431 Sofia, Bulgaria"},{"name":"Eye Clinic, University Hospital \u201cAlexandrovska\u201d, 1431 Sofia, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kiril","family":"Genov","sequence":"additional","affiliation":[{"name":"Eye Clinic, University Hospital \u201cAlexandrovska\u201d, 1431 Sofia, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4336-8334","authenticated-orcid":false,"given":"Kunka","family":"Kamenarova","sequence":"additional","affiliation":[{"name":"Molecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University of Sofia, 1431 Sofia, Bulgaria"},{"name":"Laboratory of Genomic Diagnostics, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University of Sofia, 1431 Sofia, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-8094-2255","authenticated-orcid":false,"given":"Yoanna","family":"Kaneva","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Medical Faculty, Medical University of Sofia, 1431 Sofia, Bulgaria"},{"name":"Eye Clinic, University Hospital \u201cAlexandrovska\u201d, 1431 Sofia, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kalina","family":"Mihova","sequence":"additional","affiliation":[{"name":"Molecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University of Sofia, 1431 Sofia, Bulgaria"},{"name":"Laboratory of Genomic Diagnostics, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University of Sofia, 1431 Sofia, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stanislava","family":"Kostova","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Medical Faculty, Medical University of Sofia, 1431 Sofia, Bulgaria"},{"name":"Eye Clinic, University Hospital \u201cAlexandrovska\u201d, 1431 Sofia, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1437-1393","authenticated-orcid":false,"given":"Radka","family":"Kaneva","sequence":"additional","affiliation":[{"name":"Molecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University of Sofia, 1431 Sofia, Bulgaria"},{"name":"Laboratory of Genomic Diagnostics, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University of Sofia, 1431 Sofia, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexander","family":"Oscar","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Medical Faculty, Medical University of Sofia, 1431 Sofia, Bulgaria"},{"name":"Eye Clinic, University Hospital \u201cAlexandrovska\u201d, 1431 Sofia, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2026,4,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"15","DOI":"10.2147\/PHMT.S44709","article-title":"Pediatric Glaucoma: Current Perspectives","volume":"5","author":"Marchini","year":"2014","journal-title":"Pediatr. Health Med. Ther."},{"key":"ref_2","unstructured":"Weinreb, R.N., Grajewski, A.L., Papadopoulos, M., Grigg, J., and Freedman, S. (2013). Childhood Glaucoma. The 9th Consensus Report of the World Glaucoma Association, Kugler Publications."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1097\/IJG.0000000000001712","article-title":"Childhood Glaucoma Profile in a Brazilian Tertiary Care Center Using Childhood Glaucoma Research Network Classification","volume":"30","author":"Lopes","year":"2021","journal-title":"J. Glaucoma"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1097\/IJG.0000000000001259","article-title":"Prevalence and clinical characteristics of childhood glaucoma at a Tertiary Care Children\u2019s Hospital","volume":"28","author":"Bouhenni","year":"2019","journal-title":"J. Glaucoma."},{"key":"ref_5","doi-asserted-by":"crossref","unstructured":"Pan, Y., and Iwata, T. (2024). Exploring the Genetic Landscape of Childhood Glaucoma. Children, 11.","DOI":"10.3390\/children11040454"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"899","DOI":"10.1007\/s00439-018-1935-7","article-title":"Phenotype\u2013genotype correlations and emerging pathways in ocular anterior segment dysgenesis","volume":"138","author":"Ma","year":"2019","journal-title":"Hum. Genet."},{"key":"ref_7","doi-asserted-by":"crossref","unstructured":"Cronbach, N., M\u00e9j\u00e9case, C., and Moosajee, M. (2025). Genetic Basis of Non-Syndromic Childhood Glaucoma Associated with Anterior Segment Dysgenesis: A Narrative Review. Pharmaceuticals, 18.","DOI":"10.20944\/preprints202507.1647.v1"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"2293","DOI":"10.4103\/ijo.IJO_3223_21","article-title":"Anterior segment dysgenesis: Insights into the genetics and pathogenesis","volume":"70","author":"Kaushik","year":"2022","journal-title":"Indian J. Ophthalmol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1209","DOI":"10.1007\/s00439-020-02164-0","article-title":"CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix","volume":"139","author":"Corton","year":"2020","journal-title":"Hum. Genet."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1201","DOI":"10.1039\/D5PM00097A","article-title":"Unlocking the potential of exosomes \u2018extracellular vesicles\u2019: Drug delivery advancements and therapeutics in ocular diseases","volume":"2","author":"Verma","year":"2025","journal-title":"RSC Pharm."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1016\/j.ophtha.2019.12.024","article-title":"Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma","volume":"127","author":"Siggs","year":"2020","journal-title":"Ophthalmology"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1338","DOI":"10.1016\/j.ajhg.2016.09.022","article-title":"Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis","volume":"99","author":"Cheong","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1007\/s00439-018-1878-z","article-title":"Congenital glaucoma and CYP1B1: An old story revisited","volume":"138","author":"Alsaif","year":"2018","journal-title":"Hum. Genet."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1111\/ceo.13958","article-title":"Megalocornea, anterior megalophthalmos, keratoglobus and associated anterior segment disorders: A review","volume":"49","author":"Ong","year":"2021","journal-title":"Clin. Exp. Ophthalmol."},{"key":"ref_15","doi-asserted-by":"crossref","unstructured":"Butler-Laporte, G., Povysil, H., Kosmicki, J.A., Cirulli, E.T., Drivas, T., Furini, S., Saad, C., Olszewski, P., and Korotko, U. (2022). Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative. PLoS Genet., 18.","DOI":"10.1371\/journal.pgen.1010367"},{"key":"ref_16","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_17","doi-asserted-by":"crossref","first-page":"101523","DOI":"10.1016\/j.gendis.2025.101523","article-title":"Gene jigsaw: Decrypting the CPAMD8 puzzle in Chinese patients with anterior segment dysgenesis","volume":"12","author":"Liu","year":"2025","journal-title":"Genes Dis."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"1623","DOI":"10.1038\/s41436-020-0854-x","article-title":"Revealing hidden genetic diagnoses in the ocular anterior segment disorders","volume":"22","author":"Ma","year":"2020","journal-title":"Genet. Med."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"819","DOI":"10.2147\/OPTH.S379853","article-title":"Ophthalmological Manifestations of Axenfeld-Rieger Syndrome: Current Perspectives","volume":"17","author":"Michels","year":"2023","journal-title":"Clin Ophthalmol."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"1710","DOI":"10.1136\/bjophthalmol-2020-318668","article-title":"Biallelic variants in CPAMD8 are associated with primary open-angle glaucoma and primary angle-closure glaucoma","volume":"106","author":"Li","year":"2022","journal-title":"Br. J. Ophthalmol."},{"key":"ref_21","doi-asserted-by":"crossref","unstructured":"Tan, J., Zeng, L., Wang, Y., Liu, G., Huang, L., Chen, D., Wang, X., Fan, N., He, Y., and Liu, X. (2022). Compound Heterozygous Variants of the CPAMD8 Gene Co-Segregating in Two Chinese Pedigrees with Pigment Dispersion Syndrome\/Pigmentary Glaucoma. Front. Genet., 13.","DOI":"10.3389\/fgene.2022.845081"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1038\/ejhg.2017.59","article-title":"Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants","volume":"25","author":"Souzeau","year":"2017","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_23","first-page":"OD6","article-title":"Functional interaction between ebrafish adamtsl4 and cpamd8 matrix metalloproteinase-related genes: Implications in ocular anterior segment development and glaucoma","volume":"65","author":"Escribano","year":"2024","journal-title":"Investig. Ophthalmol. Vis. Sci."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/17\/4\/494\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,25]],"date-time":"2026-04-25T04:15:10Z","timestamp":1777090510000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/17\/4\/494"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,21]]},"references-count":23,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2026,4]]}},"alternative-id":["genes17040494"],"URL":"https:\/\/doi.org\/10.3390\/genes17040494","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4,21]]}}}