Genetic Diagnosis for 64 Patients with Inherited Retinal Disease

Genetic Diagnosis for 64 Patients with Inherited Retinal Disease

The overlapping genetic and clinical spectrum in inherited retinal degeneration (IRD) creates challenges for accurate diagnoses. The goal of this work was to determine the genetic diagnosis and clinical features for patients diagnosed with an IRD. After signing informed consent, peripheral blood or...

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Bibliographic Details
Published in:Genes Vol. 14; no. 1; p. 74
Main Authors: Lynn, Jacob, Raney, Austin, Britton, Nathaniel, Ramoin, Josh, Yang, Ryan W, Radojevic, Bojana, McClard, Cynthia K, Kingsley, Ronald, Coussa, Razek Georges, Bennett, Lea D
Format: Journal Article
Language:English
Published: Switzerland MDPI AG 26-12-2022
MDPI
Subjects:
Acuity
Age
Atrophy
Diagnosis
Disease
Ethnicity
Genes
Genetic analysis
Genetic Association Studies
Genetic screening
Genetic Testing
Genetics
Genomics
Genotypes
Horizontal cells
Humans
Laboratories
Mutation
Patients
Peripheral blood
Phenotypes
Photoreceptors
Retina
Retinal degeneration
Retinal Degeneration - diagnosis
Retinal Degeneration - genetics
Saliva
Visual acuity
United Kingdom > UK
clinical
genetic testing
inherited retinal disease
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Summary:The overlapping genetic and clinical spectrum in inherited retinal degeneration (IRD) creates challenges for accurate diagnoses. The goal of this work was to determine the genetic diagnosis and clinical features for patients diagnosed with an IRD. After signing informed consent, peripheral blood or saliva was collected from 64 patients diagnosed with an IRD. Genetic testing was performed on each patient in a Clinical Laboratory Improvement Amendments of 1988 (CLIA) certified laboratory. Mutations were verified with Sanger sequencing and segregation analysis when possible. Visual acuity was measured with a traditional Snellen chart and converted to a logarithm of minimal angle of resolution (logMAR). Fundus images of dilated eyes were acquired with the Optos camera (Dunfermline, UK). Horizontal line scans were obtained with spectral-domain optical coherence tomography (SDOCT; Spectralis, Heidelberg, Germany). Genetic testing combined with segregation analysis resolved molecular and clinical diagnoses for 75% of patients. Ten novel mutations were found and unique genotype phenotype associations were made for the genes and . Collective knowledge is thereby expanded of the genetic basis and phenotypic correlation in IRD.
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ISSN:2073-4425
2073-4425
DOI:10.3390/genes14010074