ArticleCase reports in ophthalmology
A Novel
Article in Case reports in ophthalmology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Authors and funding
9 authors.
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Abstract
Introduction: This study aimed to describe the clinical characteristics of a 1-year-old male patient with Leber congenital amaurosis type 1 (LCA1) and investigate the genetic variations underlying his symptoms. Case Presentation: A comprehensive medical history of the patient was obtained with thorough examinations via mydriatic optometry, fundus photography, and flash electroretinography. To identify causative mutations, whole-exome sequencing (WES) was conducted. Potential pathogenic mutations identified with WES were further validated via Sanger sequencing, which was also performed on family members to confirm the origins of the mutations. Based on clinical and laboratory findings, the patient was diagnosed with LCA1. Two heterozygous mutations in the Conclusion: The patient was a typical case of LCA1 with two GUCY2D mutations. To the best of our knowledge, this is the first report of the allele mutation c.2516_2517del in a patient with LCA1.
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