ArticleMolecular vision2017
The importance of genetic testing as demonstrated by two cases of
Article in Molecular vision, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Concomitant Calcium Channelopathies InvolvingGenes · 2023Pooled it
- Variants in the ciliopathy gene SCLT1 are associated with non-syndromic and syndromic retinal degeneration of variable severity.NPJ genomic medicine · 2026Article
- Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.NPJ genomic medicine · 2024Article
- Improving the Yield of Genetic Diagnosis through Additional Genetic Panel Testing in Hereditary Ophthalmic Diseases.Current issues in molecular biology · 2024Article
- CaFrontiers in cell and developmental biology · 2023Article
- Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants Using Structural Modeling.The Journal of molecular diagnostics : JMD · 2022Article
- Identification of a novel CACNA1F mutation in a Chinese family with CORDX3.Molecular genetics & genomic medicine · 2022Article
- Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort.Genes · 2021Article
- Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD.NPJ genomic medicine · 2021Article
- Gene Therapy to the Retina and the Cochlea.Frontiers in neuroscience · 2021Review
- Draft Genome of the European Mouflon (Frontiers in genetics · 2020Article
- Predictive value of genetic testing for inherited retinal diseases in patients with suspected atypical autoimmune retinopathy.American journal of ophthalmology case reports · 2019Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
Abstract
purposeTo describe in detail cases with an initial diagnosis of Leber congenital amaurosis that were later found to have a hemizygous mutation in the
methodsThe patients underwent a detailed ophthalmological evaluation and full-field electroretinography (ERG). Selective targeted capture and whole-exome next-generation sequencing (NGS) were used to find the disease-causing mutations.
resultsPatient 1 presented at age 3 months with nystagmus, normal visual attention, and a normal fundus exam. ERG responses were severely decreased. Patient 2 presented with nystagmus, severe hyperopia, esotropia, and visual acuity of 20/360 oculus dexter (OD) and 20/270 oculus sinister (OS) at age 5 months. His fundus exam showed slightly increased pigmentation around the foveae. The scotopic ERG responses were severely decreased and photopic responses mildly decreased. Based on the initial presentation, both patients received the clinical diagnosis of Leber congenital amaurosis (LCA). However, genetic testing showed no mutations in known LCA genes. Instead, broader genetic testing using NGS showed point mutations in the
conclusionsThese two cases demonstrate the clinical overlap between LCA and CSNB in infants and young children. Genetic testing is an essential tool in these cases and provides a more accurate diagnosis and prognosis for patients with inherited retinal degenerative disorders.
Indexed as
Identifiers
29062221PMC5640518W2766861132What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.