biostudies-literatureUnknown23Dias MS<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 wiMolecular vision131-139https://www.ebi.ac.uk/biostudies/studies/S-EPMC5360453biostudies-literatureNovel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family.PMC5360453Hamel CPSahel JAVarin JBlanchard SBoyard FDias MSMeunier IZeitz CfalseNovel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family.<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 wi2017-01-01T00:00:00Z20172025-04-04T11:15:03.299Z2019-03-27T02:39:11ZS-EPMC536045328356705