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Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
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Peripheral Cone Dystrophy: Expanded Clinical Spectrum, Multimodal and Ultrawide-Field Imaging, and Genomic Analysis
Robert A Sisk1,2,3, Robert B Hufnagel4, Ailee Laham1
1Department of Ophthalmology, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
Journal of Ophthalmology
|August 18, 2018
Summary
Peripheral cone dystrophy (PCD) presents with subtle macular abnormalities and outer retinal atrophy. Genetic analysis reveals heterogeneity, indicating diverse etiologies for this rare condition.
Area of Science:
- Ophthalmology
- Genetics
- Retinal Diseases
Background:
- Peripheral cone dystrophy (PCD) is a rare retinal disorder.
- Previous descriptions noted minimal funduscopic changes.
Purpose of the Study:
- To detail clinical features, imaging findings, and genetic basis of PCD.
- To differentiate PCD from other photoreceptor dystrophies.
Main Methods:
- Retrospective observational case series.
- Multimodal imaging including ultrawide-field imaging.
- Full-field and multifocal electroretinography.
- Whole exome sequencing.
Main Results:
- Three patients presented with paracentral scotomas and 20/25 visual acuity.
- Characteristic bilateral macular hyperautofluorescence with outer retinal atrophy was observed.
- Ultrawide-field imaging showed peripheral retinal lesions.
- Genetic analysis identified rare variants in multiple genes, suggesting heterogeneity.
Conclusions:
- PCD exhibits subtle but abnormal funduscopic and angiographic findings.
- Macular hyperautofluorescence with outer retinal atrophy is a key feature.
- Genetic heterogeneity exists in PCD, necessitating further research.
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