Autosomal Dominant XXXX With Electronegative Waveform Associated With a Novel @entity71302 Mutation.

@entity1 @entity71302 @entity1105 @entity6121 @entity1019
Importance: The @entity1 evaluated in this study, to our knowledge, represent the first complete clinical description of a family with an autosomal dominant inheritance pattern of @entity1105 associated with a novel mutation in @entity71302 . Objectives: To clinically evaluate 4 @entity1 and 5 unaffected family members, characterize the disease phenotype over time, and identify the associated genetic mutation. Design, Setting, and @entity1 : A prospective, longitudinal, observational, case-series analysis of 9 members of an affected family at the Casey Eye Institute, Oregon Health and Science University, Portland. The dates of the study were from July 31, 1992, to August 11, 2014. Interventions: Clinical evaluations included eye examination, color fundus photography, autofluorescence imaging, spectral-domain optical coherence tomography, kinetic visual field testing, and electroretinography. Genetic mutation screening was performed with next-generation sequencing, and identified mutations were confirmed with Sanger sequencing. Main Outcomes and Measures: Clinical diagnosis and longitudinal characterization of @entity1105 and identification of genetic mutation. Results: Six members of the family were identified as having @entity1105 (4 were examined, and 3 were genetically tested). Five unaffected family members were clinically evaluated (2 were genetically tested). The age at onset of @entity1105 was variable. All affected individuals presented with declining visual acuity, central @entity1019 , waxy disc pallor, attenuated vasculature, small yellow macular deposits and/or macular pigment mottling, and abnormal electroretinograms demonstrating mixed @entity6121 and a scotopic electronegative response to bright flashes. There were no other causes of an electronegative electroretinogram identified in any of the affected @entity1 . Genetic testing revealed, to our knowledge, a novel frameshift heterozygous mutation in @entity71302 in the @entity1 with @entity1105 . Conclusions and Relevance: A frameshift heterozygous mutation in @entity71302 inherited in an autosomal dominant fashion was associated with mixed @entity6121 . Among the @entity1 , there was variability in the age at onset and in the specific pattern of photoreceptor dysfunction, but the clinical course was nevertheless slowly progressive. Screening for @entity71302 mutation could provide prognostic value for @entity1 and families with scotopic electronegative responses to bright flashes.
