Williams-Beuren syndrome case series with thinner fovea centralis and central corneal thicknesses

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dc.contributor.authorYılmaz, Göksu
dc.contributor.authorDemirci, Göktuğ
dc.contributor.authorKaraman, Sevil
dc.contributor.authorSargolzaeimoghaddam, Maral
dc.contributor.authorUluçam, Enes Sedat
dc.contributor.authorSarg, Arya
dc.date.accessioned2026-05-14T11:30:06Z
dc.date.available2026-05-14T11:30:06Z
dc.date.issued2025
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Cerrahi Tıp Bilimleri Bölümü, Göz Hastalıkları Ana Bilim Dalı
dc.description.abstractBackground/aims: To characterize the ocular signs of Williams-Beuren syndrome (WBS) in 3 cases examined at Istanbul Medipol University Ophthalmology Clinic. Methods: Three patients with a diagnosis of WBS underwent comprehensive ophthalmic evaluation at the Istanbul Medipol University Ophthalmology, including best-corrected visual acuity, slit-lamp biomicroscopy, dilated fundus examination, optical coherence tomography, corneal topography and colour fundus imaging. Results: All 3 cases had decreased best corrected visual acuity, decreased ILM-RNFL thicknesses with a persistence of inner retinal layers on the SD-OCT examinations, decreased central corneal thickness yet normal epithelial thickness measurements and retinal arteriolar tortuosity in fundus examination. Conclusion: WBS is a complex multisystem genetic disorder. The ocular findings observed in these cases which are decreased corneal thickness with normal epithelial thickness, decreased ILM-RPE thicknesses, and retinal arteriolar tortuosity may provide future insight into systemic vascular findings affected by a microdeletion of chromosome 7q11.23 which also contains elastin gene in WBS.
dc.description.abstractAntecedentes/objetivos: Caracterizar las manifestaciones oculares del s´indrome de WilliamsBeuren (WBS) de tres casos que fueron examinados en la Cl´inica de Oftalmolog´ia de laUniversidad XXX. Metodos: ´ Tres pacientes con un diagnostico ´ de SWB se sometieron a una evaluacion´oftalmica ´ integral en la Universidad XXX de Oftalmolog´ia, que incluyo´ agudeza visual mejor corregida, biomicroscop´ia con lampara ´ de hendidura, examen del fondo de ojo dilatado, tomograf´ia de coherencia optica, ´ topograf´ia corneal e imagenes ´ del fondo de ojo en color. Resultados: Los 3 casos experimentaron un descenso de la agudeza visual mejor corregida, del grosor MLI-EPR con persistencia de las capas internas de la retina en los exámenes SD-OCT, un menor espesor corneal central y mediciones normales del espesor epitelial y tortuosidad arterial retiniana en el examen del fondo de ojo. Conclusión: El SWB es un trastorno genético multisistémico complejo. Los hallazgos oculares observados en estos casos, que son un menor grosor corneal con un espesor epitelial normal, un menor grosor MLI-EPR y tortuosidad arterial retiniana podrían proporcionar información, en el futuro, sobre los hallazgos vasculares sistémicos afectados por una microdeleción del cromosoma 7q11.23, que también contiene el gen de la elastina en el SWB.
dc.identifier.citationYılmaz, G., Demirci, G., Karaman, S., Sargolzaeimoghaddam, M., Uluçam, E. S. ve Sarg, A. (2025). Williams-Beuren syndrome case series with thinner fovea centralis and central corneal thicknesses. Archivos de la Sociedad Espanola de Oftalmologia, 100(5), 238-245. http://dx.doi.org/10.1016/j.oftal.2024.11.009
dc.identifier.doi10.1016/j.oftal.2024.11.009
dc.identifier.endpage245
dc.identifier.issn0365-6691
dc.identifier.issue5
dc.identifier.pmid39894403
dc.identifier.scopus2-s2.0-105004057460
dc.identifier.scopusqualityQ3
dc.identifier.startpage238
dc.identifier.urihttp://dx.doi.org/10.1016/j.oftal.2024.11.009
dc.identifier.urihttps://hdl.handle.net/20.500.12511/13450
dc.identifier.volume100
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorYılmaz, Göksu
dc.institutionauthorDemirci, Göktuğ
dc.institutionauthorKaraman, Sevil
dc.institutionauthorSargolzaeimoghaddam, Maral
dc.institutionauthorUluçam, Enes Sedat
dc.institutionauthorSarg, Arya
dc.institutionauthorid0000-0002-5079-4713
dc.institutionauthorid0000-0001-9829-7268
dc.language.isoen
dc.relation.ispartofArchivos de la Sociedad Espanola de Oftalmologia
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectFovea
dc.subjectOCT
dc.subjectWilliams-Beuren Syndrome
dc.titleWilliams-Beuren syndrome case series with thinner fovea centralis and central corneal thicknesses
dc.title.alternativeSerie de casos del síndrome de Williams-Beuren con disminución de la fóvea central y del espesor corneal central
dc.typeArticle

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