{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T00:58:24Z","timestamp":1760057904820,"version":"build-2065373602"},"reference-count":8,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2025,3,5]],"date-time":"2025-03-05T00:00:00Z","timestamp":1741132800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Goldmann\u2013Favre syndrome (GFS) is a rare vitreoretinal degenerative disorder caused by mutations in the NR2E3 gene located on the short arm of chromosome 15. This condition, inherited in an autosomal recessive manner, was first described by Favre in two siblings, with Ricci later confirming its hereditary pattern. In GFS, rod photoreceptors are essentially replaced by S-cone photoreceptors. Enhanced S-Cone Syndrome (ESCS) and Goldmann\u2013Favre syndrome are two distinct entities within the spectrum of retinal degenerative diseases, both caused by mutations in the NR2E3 gene. Despite sharing a common genetic basis, these conditions exhibit significantly different clinical phenotypes. ESCS is characterized by an excessive number of S-cones (blue-sensitive cones) with degeneration of rods and L-\/M-cones, leading to increased sensitivity to blue light and early-onset night blindness. In contrast, GFS is considered a more severe form of ESCS, involving additional features such as retinal schisis, vitreous degeneration, and more pronounced visual impairment. GFS typically manifests in the first decade of life as night blindness (nyctalopia) and progressive visual acuity impairment. The clinical features include degenerative vitreous changes such as liquefaction, strands, and bands, along with macular and peripheral retinoschisis, posterior subcapsular cataract, atypical pigmentary dystrophy, and markedly abnormal or nondetectable electroretinograms (ERGs). Although peripheral retinoschisis is more common in GFS, central retinoschisis may also occur. Despite the consistent genetic basis, the phenotype of GFS can vary significantly among individuals. The differential diagnosis should consider diseases within the retinal degenerative spectrum, including retinitis pigmentosa, congenital retinoschisis, and secondary pigmentary retinopathy.<\/jats:p>","DOI":"10.3390\/diagnostics15050622","type":"journal-article","created":{"date-parts":[[2025,3,5]],"date-time":"2025-03-05T03:18:22Z","timestamp":1741144702000},"page":"622","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Rare Vitreoretinal Degenerative Disorder: Goldmann\u2013Favre Syndrome Complicated with Choroidal Neovascularization in a Pediatric Patient"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-7715-8024","authenticated-orcid":false,"given":"Klaudia","family":"Szala","sequence":"first","affiliation":[{"name":"Students\u2019 Scientific Society, Department of Ophthalmology, Faculty of Medical Sciences in Katowice, Medical University of Silesia in Katowice, 40-055 Katowice, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bogumi\u0142a","family":"W\u00f3jcik-Niklewska","sequence":"additional","affiliation":[{"name":"Department of Pediatric Ophtalmology, Faculty of Medical Sciences in Katowice, Medical University of Silesia in Katowice, 40-055 Katowice, Poland"},{"name":"Kornel Gibi\u0144ski University Clinical Centre, 40-514 Katowice, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,3,5]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1177\/112067210301300311","article-title":"Goldmann-Favre vitreoretinal degeneration","volume":"13","author":"Batioglu","year":"2003","journal-title":"Eur. J. Ophthalmol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1007\/978-3-319-95046-4_28","article-title":"Enhanced S-Cone Syndrome (Goldmann-Favre Syndrome)","volume":"Volume 28","author":"Tsang","year":"2018","journal-title":"Atlas of Inherited Retinal Diseases"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1001\/archophthalmol.2008.534","article-title":"Phenotypic features of patients with NR2E3 mutations","volume":"127","author":"Pachydaki","year":"2009","journal-title":"Arch. Ophthalmol."},{"key":"ref_4","first-page":"47","article-title":"Goldmann-Favre Syndrome: Case Series","volume":"48","author":"Tekin","year":"2018","journal-title":"Turk. J. Ophthalmol."},{"key":"ref_5","first-page":"265","article-title":"Pr\u00e9sentation du rapport sur la biomicroscopie du du corps vitr\u00e9 et du fond d\u2019oeil","volume":"70","author":"Goldmann","year":"1957","journal-title":"Bull. Mem. Soc. Fr. d\u2019Ophtalmol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1159\/000303360","article-title":"Two cases of hyaloid-retinal degeneration","volume":"135","author":"Favre","year":"1958","journal-title":"Ophthalmologica"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1159\/000303719","article-title":"Clinique et transmission g\u00e9n\u00e9tique des differentes formes de deg\u00e9nerescences vitreo-r\u00e9tiniennes","volume":"139","author":"Ricci","year":"1960","journal-title":"Ophthalmologica"},{"key":"ref_8","first-page":"13","article-title":"Response of Pediatric Choroidal Neovascularization to Anti-Vascular Endothelial Growth Factor","volume":"2021","author":"Ruparelia","year":"2021","journal-title":"Cureus"}],"container-title":["Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4418\/15\/5\/622\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T16:47:16Z","timestamp":1760028436000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4418\/15\/5\/622"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3,5]]},"references-count":8,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2025,3]]}},"alternative-id":["diagnostics15050622"],"URL":"https:\/\/doi.org\/10.3390\/diagnostics15050622","relation":{},"ISSN":["2075-4418"],"issn-type":[{"type":"electronic","value":"2075-4418"}],"subject":[],"published":{"date-parts":[[2025,3,5]]}}}