Macular atrophy and focal choroidal excavation in a patient with JAG1 - related alagille syndrome.

Autor:	Ruiz-Chavolla D; Retina Department, Institute of Ophthalmology, Fundación Conde de Valenciana, Mexico City, Mexico., Barragán-Arévalo T; Genetics Department, Hospital Infantil de México, Federico Gómez, Mexico City, Mexico., Cortes-Muñoz D; Retina Department, Institute of Ophthalmology, Fundación Conde de Valenciana, Mexico City, Mexico., Sánchez-Ruiz J; Retina Department, Institute of Ophthalmology, Fundación Conde de Valenciana, Mexico City, Mexico., Zenteno JC; Genetics Department, Institute of Ophthalmology, Fundación Conde de Valenciana, Mexico City, Mexico.; Biochemistry Department, faculty of Medicine, UNAM, Mexico City, Mexico., Ledesma-Gil G; Retina Department, Institute of Ophthalmology, Fundación Conde de Valenciana, Mexico City, Mexico.
Jazyk:	angličtina
Zdroj:	Ophthalmic genetics [Ophthalmic Genet] 2024 Jun; Vol. 45 (3), pp. 299-302. Date of Electronic Publication: 2024 Mar 25.
DOI:	10.1080/13816810.2024.2303786
Abstrakt:	Introduction: Alagille syndrome (AGS) is a genetic disease with multisystemic affection, including ocular manifestations. Recently, a high frequency of posterior segment findings, including macular changes, has been reported. This publication aims to report an unusual finding of macular atrophy and a focal choroidal excavation in a patient with JAG1 related AGS. Methods: Case report. Results: This publication describes an atypical presentation of focal choroidal excavation (FCE) and unilateral macular atrophy in a 7-year-old male with Alagille syndrome (AGS). Genetic analysis revealed a pathogenic variant in the JAG1 gene. Ophthalmological examination and imaging findings demonstrated characteristic ocular manifestations of AGS, including posterior embryotoxon, chorioretinal atrophy, and thinning of the choroid. Conclusion: The presence of FCE in AGS is uncommon, and the underlying mechanisms remain unclear. Further exploration of similar cases is necessary to better understand the evolution and visual prognosis in patients with AGS and FCE.
Databáze:	MEDLINE
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