April 2011
Volume 52, Issue 14
Free
ARVO Annual Meeting Abstract  |   April 2011
A Web-based Health Survey of Choroideremia Patients
Author Affiliations & Notes
  • Qi Zhou
    Ophthalmology, University of Alberta, Edmonton, Alberta, Canada
  • Shelly Benjaminy
    Ophthalmology, University of Alberta, Edmonton, Alberta, Canada
  • Ian M. MacDonald
    Ophthalmology, University of Alberta, Edmonton, Alberta, Canada
  • Footnotes
    Commercial Relationships  Qi Zhou, None; Shelly Benjaminy, None; Ian M. MacDonald, None
  • Footnotes
    Support  Choroideremia Research Foundation, Canada
Investigative Ophthalmology & Visual Science April 2011, Vol.52, 4241. doi:
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      Qi Zhou, Shelly Benjaminy, Ian M. MacDonald; A Web-based Health Survey of Choroideremia Patients. Invest. Ophthalmol. Vis. Sci. 2011;52(14):4241.

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

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Abstract

Purpose: : To report the health status of choroideremia patients and to find possible disease modifiers.

Methods: : A web-based survey designed by QuestionProTM Software was made available for CHM patients, female carriers and unaffected brothers. The survey variables were compared across the sample by t-Test, Chi-square and logistic regression models using IBM SPSS Statistics 19. Subgroup analyses were performed for affected males, unaffected males and female carriers.

Results: : Of 256 respondents, sufficient data for analysis were provided by 192 (75.0%); of these, 119 (62%) were affected males, 53 (27.6%) female carriers, and 20 (10.4%) were unaffected brothers. In the affected male group, 38 (31.9%) had nonfunctional vision; of the carrier females, 16 (30.2%) were symptomatic. The prevalence of dry eye in the entire sample was significantly higher than the North American population (p=0.000). The prevalence of cataract (p=0.018), dry eye (p=0.045),hyperopia (p=0.037), history of eye surgery (p=0.039) in affected males with nonfunctional vision was higher than in affected males with functional vision, while myopia (p=0.034) were lower in the nonfunctional group. The prevalence of systemic diseases was no higher in the entire sample than in the North American population, however the prevalence of hypertension (p=0.027), hypercholesterolemia (p=0.001), diabetes mellitus (p=0.006) and psychological problems (p=0.019) were significantly higher in CHM affected males with nonfunctional vision than in those with functional vision. The prevalence of arthritis (p=0.002) and heart problems (p=0.039) was higher in the symptomatic carriers than in the asymptomatic carriers. Statin use was significantly higher in the CHM affected males with nonfunctional vision (p=0.002). Logistic regression analysis showed that statin use was the most significant factor in the affected male group (p=0.006) and age (p=0.028) was the most significant factor in the female carrier group.

Conclusions: : CHM is a retinal disorder, but other ophthalmological problems and systemic diseases, like hypertension, diabetes, and hypercholesterolemia should be recognized and treated in affected patients. Psychological problems should also be addressed. Based on our findings, we suggest alternates to statin treatment of hypercholesterolemia in CHM patients and a long term follow -up for female carriers.

Keywords: clinical (human) or epidemiologic studies: risk factor assessment • choroid 
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