Document Detail


Pattern of retinal ganglion cell loss in dominant optic atrophy due to OPA1 mutations.
MedLine Citation:
PMID:  21378995     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
PURPOSE: The majority of patients with autosomal dominant optic atrophy (DOA) harbour pathogenic OPA1 mutations. Although DOA is characterised by the preferential loss of retinal ganglion cells (RGCs), about 20% of patients with OPA1 mutations will develop a more severe disease variant (DOA+), with additional neuromuscular features. In this prospective, observational case series, optical coherence tomography (OCT) was used to define the pattern of retinal nerve fibre layer (RNFL) loss in patients with both the pure and syndromal forms of DOA.
METHODS: Forty patients with a molecular diagnosis of DOA due to OPA1 mutations were prospectively recruited from our neuro-ophthalmology clinic: 26 patients with isolated optic atrophy and 14 patients manifesting DOA+ features. Peripapillary RNFL thickness was measured with the Fast RNFL (3.4) acquisition protocol on a Stratus OCT.
RESULTS: There was a statistically significant reduction in average RNFL thickness in the OPA1 group compared with normal controls (P<0.0001). The percentage decrease was greatest in the temporal quadrant (59.0%), followed by the inferior (49.6%), superior (41.8%), and nasal (25.9%) quadrants. Patients with DOA+ features had worse visual outcomes compared with patients with pure DOA. Except in the temporal quadrant, RNFL measurements were significantly thinner for the DOA+ group. There was an inverse correlation between average RNFL thickness and logarithm of the minimum angle of resolution (LogMAR) visual acuity (P<0.0001).
CONCLUSIONS: RGC loss in DOA is characterised by severe involvement of the temporal papillomacular bundle, with relative sparing of the nasal fibres. RNFL thinning is more pronounced in patients with DOA+ phenotypes.
Authors:
P Yu-Wai-Man; M Bailie; A Atawan; P F Chinnery; P G Griffiths
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2011-03-04
Journal Detail:
Title:  Eye (London, England)     Volume:  25     ISSN:  1476-5454     ISO Abbreviation:  Eye (Lond)     Publication Date:  2011 May 
Date Detail:
Created Date:  2011-05-12     Completed Date:  2011-08-24     Revised Date:  2013-06-30    
Medline Journal Info:
Nlm Unique ID:  8703986     Medline TA:  Eye (Lond)     Country:  England    
Other Details:
Languages:  eng     Pagination:  596-602     Citation Subset:  IM    
Affiliation:
Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, UK. Patrick.Yu-Wai-Man@ncl.ac.uk
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Aged
Child
Cohort Studies
Female
GTP Phosphohydrolases / genetics*
Humans
Male
Middle Aged
Mutation*
Optic Atrophy, Autosomal Dominant / genetics*,  pathology*
Optic Disk / pathology
Prospective Studies
Retina / pathology
Retinal Ganglion Cells / pathology*
Tomography, Optical Coherence / methods
Visual Acuity
Young Adult
Grant Support
ID/Acronym/Agency:
084980//Wellcome Trust; G0701386//Medical Research Council; G0701386(85091)//Medical Research Council; //Medical Research Council
Chemical
Reg. No./Substance:
EC 3.6.1.-/GTP Phosphohydrolases; EC 3.6.1.-/OPA1 protein, human
Comments/Corrections

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