Strabismus in an Adolescent With Stargardt Disease: An Atypical Presentation.

Autor:	López-Fontanet JJ; Department of Ophthalmology, School of Medicine, Medical Sciences Campus, University of Puerto Rico, San Juan, PRI., Guardiola Dávila G; Department of Ophthalmology, School of Medicine, Medical Sciences Campus, University of Puerto Rico, San Juan, PRI., Izquierdo N; Department of Surgery, School of Medicine, Medical Sciences Campus, University of Puerto Rico, San Juan, PRI., Oliver A; Department of Ophthalmology, School of Medicine, Medical Sciences Campus, University of Puerto Rico, San Juan, PRI.
Jazyk:	angličtina
Zdroj:	Cureus [Cureus] 2024 Sep 13; Vol. 16 (9), pp. e69325. Date of Electronic Publication: 2024 Sep 13 (Print Publication: 2024).
DOI:	10.7759/cureus.69325
Abstrakt:	We report on the case of a 19-year-old male with Stargardt disease (STGD1) who presented with a five-year history of progressive vision loss, accompanied by the recent onset of alternating exotropia. This patient initially sought care due to difficulties with near vision and tended to focus on distant objects when looking to the right. He was found to have a best-corrected visual acuity of 20/200 in both eyes. A comprehensive evaluation, including multimodal imaging and multifocal electroretinogram, was performed. Genetic testing confirmed the diagnosis of STGD1, identifying homozygous mutations in the ABCA4 gene. Interestingly, an additional heterozygous mutation in the WDPCP gene, typically associated with Bardet-Biedl syndrome, was also discovered. The patient's exotropia, an atypical feature in STGD1, underscores the importance of comprehensive clinical and genetic evaluation and the need for further research into the clinical significance of these findings. Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work. (Copyright © 2024, López-Fontanet et al.)
Databáze:	MEDLINE
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