Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family.
Year: 2017
Type: article
Study design: Case Report
Abstract: PURPOSE: To report the clinical and genetic findings of one family with autosomal recessive cone dystrophy (CD) and to identify the causative mutation. METHODS: An institutional study of three family members from two generations. The clinical examination included best-corrected Snellen visual acuity measurement, fundoscopy, the Farnsworth D-15 color vision test, a full-field electroretinogram (ERG) that incorporated the International Society for Clinical Electrophysiology of Vision standards and methodology, fundus autofluorescence (FAF) and infrared (IR), and spectral-domain optical coherence tomography (SD-OCT). Genetic findings were achieved with DNA analysis using whole exome sequencing (WES) and Sanger sequencing. RESULTS: (c.182-3_182-1delinsAA) was found cosegregating within the phenotype in the family. CONCLUSIONS: The distinction between icCSNB and CD phenotypes is not always straightforward in young patients. The patient was quite young, which most likely explains why the progression of the CD was not obvious. WES analysis provided prompt diagnosis for this family; thus, the use of this technique to refine the diagnosis is highlighted in this study.
Source: PubMed
Authors: Miguel de Sousa Dias, Christian P Hamel, Isabelle Meunier, Juliette Varin, Steven Blanchard, Fiona Boyard, José-Alain Sahel, Christina Zeitz
Institutions: Centre National de la Recherche Scientifique, Institut de la Vision, Inserm, Université Pierre-et-Marie-Curie, Institute for Neurosciences of Montpellier, Hôpital Saint Eloi, Genopole (France), IntegraGen (France), Centre hospitalier national d'ophtalmologie des Quinze-Vingts, Fondation Ophtalmologique Adolphe de Rothschild, University College London
Language: English
Subfield: Ophthalmology
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W2608527662