Academic Journal
Radial lattice degenerations and foveal hypoplasia: Late diagnosis of Stickler syndrome in a patient without high myopia.
| Τίτλος: | Radial lattice degenerations and foveal hypoplasia: Late diagnosis of Stickler syndrome in a patient without high myopia. |
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| Συγγραφείς: | Puchol-Rizo M; Servicio de Oftalmología, Hospital Universitario 12 de Octubre, Madrid, Spain. Electronic address: martinpucholrizo@gmail.com., Suárez-Baraza J; Servicio de Oftalmología, Hospital Universitario 12 de Octubre, Madrid, Spain., Muñoz-Gallego A; Servicio de Oftalmología, Hospital Universitario 12 de Octubre, Madrid, Spain. |
| Πηγή: | Archivos de la Sociedad Espanola de Oftalmologia [Arch Soc Esp Oftalmol (Engl Ed)] 2026 Sep; Vol. 101 (9), pp. 502554. Date of Electronic Publication: 2026 Apr 15. |
| Τύπος έκδοσης: | Case Reports; Journal Article |
| Γλώσσα: | English |
| Στοιχεία περιοδικού: | Publisher: Elsevier España Country of Publication: Spain NLM ID: 101715860 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2173-5794 (Electronic) Linking ISSN: 21735794 NLM ISO Abbreviation: Arch Soc Esp Oftalmol (Engl Ed) Subsets: MEDLINE |
| Imprint Name(s): | Original Publication: Madrid : Elsevier España |
| Ιατρικοί όροι (MeSH): | Retinal Detachment*/diagnosis , Retinal Detachment*/genetics , Connective Tissue Diseases*/diagnosis , Connective Tissue Diseases*/genetics , Connective Tissue Diseases*/complications , Arthritis*/diagnosis , Arthritis*/complications , Arthritis*/genetics , Fovea Centralis*/abnormalities , Fovea Centralis*/diagnostic imaging , Hearing Loss, Sensorineural*/diagnosis , Hearing Loss, Sensorineural*/genetics , Hearing Loss, Sensorineural*/complications , Vitreous Detachment*/diagnosis, Collagen Type II/genetics ; Humans ; Female ; Adult ; Delayed Diagnosis ; Tomography, Optical Coherence ; Myopia ; Myopia, Degenerative |
| Περίληψη: | Stickler syndrome is a rare connective tissue disorder with multisystem involvement. We describe the diagnosis and management of Stickler syndrome in a 39-year-old woman with unclassified bone-muscle dysplasia and no prior ocular history, presenting with floaters. Fundus examination showed radial lattice degenerations in both eyes and optical coherence tomography revealed bilateral foveal hypoplasia. Despite not having high myopia (only -4 Diopters in each eye), those funduscopic findings made us investigate further disease. A genetic test was made, and she was found to be heterozygous for the likely pathogenic variant c.1069-2A > T in the COL2A1 gene. Therefore, our patient was finally diagnosed with Stickler syndrome type 1. This case emphasizes the need to consider Stickler syndrome in adults with vitreoretinal degeneration and foveal hypoplasia, even in the absence of high myopia. (Copyright © 2026 Sociedad Española de Oftalmología. Published by Elsevier España, S.L.U. All rights reserved.) |
| Competing Interests: | Declaration of competing interest The authors declare that there are no conflicts of interest. |
| Contributed Indexing: | Keywords: COL2A1; COL2A1 gene; Degeneración en empalizada; Degeneración vitreorretiniana; Foveal hypoplasia; Hipoplasia foveal; Radial lattice degeneration; Stickler syndrome; Síndrome de Stickler; Vitreoretinal degeneration |
| Substance Nomenclature: | 0 (Collagen Type II) 0 (COL2A1 protein, human) |
| SCR Disease Name: | Stickler syndrome, type 1 |
| Entry Date(s): | Date Created: 20260417 Date Completed: 20260831 Latest Revision: 20260831 |
| Update Code: | 20260901 |
| DOI: | 10.1016/j.oftale.2026.502554 |
| PMID: | 41997526 |
| Βάση Δεδομένων: | MEDLINE |
| ISSN: | 2173-5794 |
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| DOI: | 10.1016/j.oftale.2026.502554 |