April 2014
Volume 55, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2014
Pattern Dystrophy of the Retinal Pigment Epithelium Misdiagnosed as Age-related Macular Degeneration
Author Affiliations & Notes
  • Voraporn Chaikitmongkol
    Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD
    Department of Ophthalmology, Chiang Mai University, Chiang Mai, Thailand
  • Michelle Michelson
    Duke University, Durham, NC
  • Susan B Bressler
    Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD
  • Neil M Bressler
    Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD
  • Footnotes
    Commercial Relationships Voraporn Chaikitmongkol, None; Michelle Michelson, None; Susan Bressler, None; Neil Bressler, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science April 2014, Vol.55, 4018. doi:https://doi.org/
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      Voraporn Chaikitmongkol, Michelle Michelson, Susan B Bressler, Neil M Bressler; Pattern Dystrophy of the Retinal Pigment Epithelium Misdiagnosed as Age-related Macular Degeneration. Invest. Ophthalmol. Vis. Sci. 2014;55(13):4018. doi: https://doi.org/.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract
 
Purpose
 

To determine the frequency that pattern dystrophy of the retinal pigment epithelium was misdiagnosed as age-related macular degeneration (AMD).

 
Methods
 

Patients with ICD-9 codes for AMD or retinal dystrophies (362.51, 362.52, 362.70, 362.74, and 362.76) of two retina specialists (SBB, NMB) at a university-based practice from January 1, 2005 through December 31, 2012 were retrospectively reviewed to identify those with a pattern dystrophy of the RPE as confirmed by fundus photographs and, when available, fluorescein angiograms, evaluated by two retina specialists (VC, NMB). Medical records and referral letters of those patients with a confirmed diagnosis of pattern dystrophy subsequently were reviewed to determine if the previous diagnosis was AMD.

 
Results
 

1092 patient records were reviewed, among which 86 had a diagnosis of pattern dystrophy of the RPE. Subsequent review confirmed 64 with pattern dystrophy and no large drusen (pattern dystrophy and no AMD); 17 additional cases had pattern dystrophy with ≥1 large druse in either eye (pattern dystrophy and AMD); 2 others had poor image quality; 3 others had co-existing vitreomacular interface abnormalities. Of the 64 cases of pattern dystrophy and no AMD, 36 (56%, 95% confidence interval [CI]: 43% to 69%) initially were referred as AMD. Among these 36 misdiagnosed patients, the median age was 69 years (interquartile range, 58 years to 82 years), 67% were women, 97% were Caucasian and 75% had pattern dystrophy in both eyes. Also among these 36 patients (61 eyes), the median presenting visual acuity was 20/40 (interquartile range, 20/25 to 20/63); 7 eyes (11%, 95%CI: 5% to 22%) had geographic atrophy involving the fovea; 4 eyes (7%, 95%CI: 2% to 16%) had geographic atrophy not involving the fovea; 4 eyes (6%, 95%CI: 2% to 15%) had choroidal neovascularization, all 4 received anti-VEGF therapy. None of the other 32 misdiagnosed patients received anti-VEGF therapy. Eleven (31%, 95%CI: 16% to 48%) of the 36 misdiagnosed patients were taking dietary supplements for AMD; all 11 were advised to consider discontinuing the supplements.

 
Conclusions
 

In this university-based clinic, while pattern dystrophy of the RPE is far less common than AMD, a majority of pattern dystrophy cases appear to be misdiagnosed as AMD which could impact physician-patient discussions regarding diagnosis, prognosis and management.

 
Keywords: 412 age-related macular degeneration • 696 retinal degenerations: hereditary  
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