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Molecular Heterogeneity Within the Clinical Diagnosis of Pericentral Retinal Degeneration
- Source :
- Investigative Opthalmology & Visual Science. 56:6007
- Publication Year :
- 2015
- Publisher :
- Association for Research in Vision and Ophthalmology (ARVO), 2015.
-
Abstract
- To characterize in detail the phenotype and genotype of patients with pericentral retinal degeneration (PRD).Patients were screened for an annular ring scotoma ranging from 3° to 40° (n = 28, ages 24-71) with kinetic perimetry. All patients had pigmentary retinopathy in the region of the dysfunction. Further studies included cross-sectional and en face imaging, static chromatic perimetry, and electroretinography. Molecular screening was performed.Genotypes of 14 of 28 PRD patients were identified: There were mutations in eight different genes previously associated with autosomal dominant or autosomal recessive RDs. Kinetic fields monitored in some patients over years to more than a decade could be stable or show increased extent of the scotoma. Electroretinograms were recordable but with different severities of dysfunction. Patterns of photoreceptor outer nuclear layer (ONL) loss corresponded to the distribution of visual dysfunction. Outer nuclear layer thickness topography and en face imaging indicated that the greatest disease expression was in the area of known highest rod photoreceptor density.Molecular heterogeneity was a feature of the PRD phenotype. Many of the molecular causes were also associated with other phenotypes, such as maculopathies, typical retinitis pigmentosa (RP) and cone-rod dystrophy. The pericentral pattern of retinal degeneration is thus confirmed to be an uncommon phenotype of many different genotypes rather than a distinct disease entity.
- Subjects :
- Adult
Male
Retinal degeneration
Pathology
medicine.medical_specialty
DNA Mutational Analysis
Biology
Molecular heterogeneity
Retina
Young Adult
Retinal Rod Photoreceptor Cells
Genotype
Electroretinography
medicine
Humans
Eye Proteins
Aged
medicine.diagnostic_test
Retinal Degeneration
DNA
Anatomy
Middle Aged
medicine.disease
Phenotype
Rod Photoreceptors
Clinical diagnosis
Mutation
Visual Field Tests
Female
Visual Fields
Tomography, Optical Coherence
Subjects
Details
- ISSN :
- 15525783
- Volume :
- 56
- Database :
- OpenAIRE
- Journal :
- Investigative Opthalmology & Visual Science
- Accession number :
- edsair.doi.dedup.....d9d86fd85c679b9f625e39436dca6ece
- Full Text :
- https://doi.org/10.1167/iovs.15-17174