{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["23"],"submitter":["Dias MS"],"pubmed_abstract":["<h4>Purpose</h4>To report the clinical and genetic findings of one family with autosomal recessive cone dystrophy (CD) and to identify the causative mutation.<h4>Methods</h4>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.<h4>Results</h4>The proband, a 9-year-old boy, presented wi"],"journal":["Molecular vision"],"pagination":["131-139"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5360453"],"repository":["biostudies-literature"],"pubmed_title":["Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family."],"pmcid":["PMC5360453"],"pubmed_authors":["Hamel CP","Sahel JA","Varin J","Blanchard S","Boyard F","Dias MS","Meunier I","Zeitz C"],"additional_accession":[]},"is_claimable":false,"name":"Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family.","description":"<h4>Purpose</h4>To report the clinical and genetic findings of one family with autosomal recessive cone dystrophy (CD) and to identify the causative mutation.<h4>Methods</h4>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.<h4>Results</h4>The proband, a 9-year-old boy, presented wi","dates":{"release":"2017-01-01T00:00:00Z","publication":"2017","modification":"2025-04-04T11:15:03.299Z","creation":"2019-03-27T02:39:11Z"},"accession":"S-EPMC5360453","cross_references":{"pubmed":["28356705"]}}