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Retinal arterial but not venous tortuosity correlates with facioscapulohumeral muscular dystrophy severity.
MedLine Citation:
PMID:  20603058     Owner:  NLM     Status:  In-Process    
Abstract/OtherAbstract:
BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal-dominant disease beginning with facial and shoulder girdle weakness with variable progression. Exudative retinal detachment, retinal vessel irregularities on fluorescein angiography, and retinal vessel tortuosity have been found in association with FSHD. METHODS: In this retrospective study, muscle affectedness severity was rated as mild, moderate, or severe by a neurologist masked to the retinal images. Three ophthalmologists masked to disease severity graded the degree of arterial and venous tortuosity on a scale of 1 to 4. An automated method estimated an index of tortuosity for arteries and veins from color fundus photographs. Spearman rank correlation coefficients were used to describe the relationship between retinal vessel tortuosity and disease severity. RESULTS: Seven patients with an average age of 13 years (range, 7-36 years) were selected. Correlation between the subjective tortuosity for arteries, and the severity of FSHD was 0.78 (p = 0.039). The correlation coefficient for venous tortuosity was -0.06 and was not significant (p = 0.882). The correlation coefficient between the average algorithmic computer-generated tortuosity indices for arteries and FSHD severity was high (0.85, p = 0.016), but for veins it was low and not significant (0.19, p = 0.662). CONCLUSIONS: The authors of previous reports have shown retinal vascular abnormalities did not correlate to FSHD disease severity. Our results suggest a correlation between the tortuosity of arteries and the severity of disease in FSHD patients. These results suggest the tortuosity of arteries can serve as a biomarker of severity of disease in these FSHD patients, either as determined by human experts or by an automated method.
Authors:
Susannah Q Longmuir; Katherine D Mathews; Reid A Longmuir; Vinayak Joshi; Richard J Olson; Michael D Abràmoff
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus     Volume:  14     ISSN:  1528-3933     ISO Abbreviation:  J AAPOS     Publication Date:  2010 Jun 
Date Detail:
Created Date:  2010-07-06     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9710011     Medline TA:  J AAPOS     Country:  United States    
Other Details:
Languages:  eng     Pagination:  240-3     Citation Subset:  IM    
Affiliation:
Department of Ophthalmology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA. Susannah-longmuir@uiowa.edu
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