title: Spectral domain optical coherence tomography findings in CNGB3-associated achromatopsia and therapeutic implications.
abstract: We describe the spectral domain OCT findings in two siblings with CNGB3-associated achromatopsia. A 33-year-old female and her 31-year-old sibling were evaluated for mild nystagmus and decreased visual acuity which had been present since childhood. They were each evaluated with full field Ganzfeld electroretinography which demonstrated flat photopic responses and preserved rod function. Genetic testing performed at Carver lab at the University of Iowa confirmed a diagnosis of achromatopsia with identical mutations in the CNGB3 gene. Spectral domain optical coherence tomography was performed which revealed foveal changes in both siblings, with slight phenotypic variations in these genotypically identical siblings. OCT findings in achromatopsia emphasize the importance of early identification and treatment in this disorder.
authors.affiliation: Department of Ophthalmology, University of Florida College of Medicine, 32610-0284, Gainesville, FL, USA, mlmccl01@ufl.edu.
authors.forename: Michael
authors.initials: M
authors.lastname: McClintock
authors.forename: Marc C
authors.initials: MC
authors.lastname: Peden
authors.forename: Christine N
authors.initials: CN
authors.lastname: Kay
mesh_terms: D000328:Adult; D003117:Color Vision Defects / Q000235:genetics* / Q000473:pathology* / Q000628:therapy; D054815:Cyclic Nucleotide-Gated Cation Channels / Q000235:genetics*; D005260:Female; D005584:Fovea Centralis / Q000473:pathology / Q000502:physiology; D015316:Genetic Therapy; D006801:Humans; D055214:Retinal Photoreceptor Cell Outer Segment / Q000473:pathology / Q000502:physiology; D035781:Siblings; D041623:Tomography, Optical Coherence
chemical_list: C415904:CNGB3 protein, human; D054815:Cyclic Nucleotide-Gated Cation Channels