May 2007
Volume 48, Issue 13
ARVO Annual Meeting Abstract  |   May 2007
The Southwest Eye Registry: A Twelve-Year Evaluation
Author Affiliations & Notes
  • D. K. Wheaton
    Retina Foundation of Southwest, Dallas, Texas
  • B. D. Stier
    Retina Foundation of Southwest, Dallas, Texas
  • S. J. Bowne
    Human Genetics Center, UT-Houston, Houston, Texas
  • L. S. Sullivan
    Human Genetics Center, UT-Houston, Houston, Texas
  • S. P. Daiger
    Human Genetics Center, UT-Houston, Houston, Texas
  • D. G. Birch
    Retina Foundation of Southwest, Dallas, Texas
  • Footnotes
    Commercial Relationships D.K. Wheaton, None; B.D. Stier, None; S.J. Bowne, None; L.S. Sullivan, None; S.P. Daiger, None; D.G. Birch, None.
  • Footnotes
    Support NIH Grant EY05235, NIH Grant EY07142, Foundation Fighting Blindness
Investigative Ophthalmology & Visual Science May 2007, Vol.48, 5494. doi:
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      D. K. Wheaton, B. D. Stier, S. J. Bowne, L. S. Sullivan, S. P. Daiger, D. G. Birch; The Southwest Eye Registry: A Twelve-Year Evaluation. Invest. Ophthalmol. Vis. Sci. 2007;48(13):5494.

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

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Purpose:: The Southwest Eye Registry (SER) is a regional database for patients with retinal degenerative diseases and allied inherited disorders. The patient population is primarily derived from Texas and neighboring states with the Dallas metropolitan area comprising the core referral area. Clinical, functional, and molecular genetic data are maintained in the registry as a source of patients for natural history studies, genotype/phenotype analyses, and clinical intervention trials. Additional demographic data were added to the registry after a 5-year evaluation of the database in order to increase epidemiological research capabilities. Reported here are the results of an interim re-evaluation of the database conducted 12 years after inception.

Methods:: The database population (n=2940) includes patients (n=2115), as well as carriers, unaffected, and at-risk relatives (n=825). Individuals are categorized according to disease status and genetic subtype. Data include demographics, visual function measures (visual acuity, electroretinogram, visual field, dark adaptation), pedigree, blood sample/DNA tracking and results of genetic analysis. The database population was assessed according to disease classification, inheritance pattern, and genetic mutation status.

Results:: The distribution of disease classifications for patients affected with retinal disease was: 52% retinitis pigmentosa (RP), 9% heritable macular degeneration, 11% cone/cone-rod dystrophy, 3% Usher syndrome, 3% Leber congenital amaurosis, and 21% other retinal/allied disorders. The RP category by genetic subtype was: 29% adRP, 13% arRP, 14% xlRP, 36% isolate, and 8% atypical. Genetic analysis identified causative mutations for 273 individuals (116 probands), attributable to the RHO, RDS, RP1, IMPDH1, PRPF31, PRPF8, PRPF3, RPGR, ABCA4, CRX, CNGB3, USH2A, RPE65, AIPL1,andCHM genes. Among all unrelated patients with adRP, the frequencies of disease-causing mutations detected in this population were 24% RHO, 5% RDS, <1% RP1, 1% IMPDH1, 2% PRPF31, 3% PRPF8, and <1% PRPF3. Visual function data are available for 89% of the database population.

Conclusions:: This registry serves as a rich source of well-characterized patients to elucidate the origin and treatment of retinal degenerative diseases. The recent inclusion of supplemental demographic parameters will allow the estimation of disease prevalence among our geographically-defined population, thereby increasing the epidemiological utility of the database.

Keywords: retinal degenerations: hereditary • genetics • clinical (human) or epidemiologic studies: prevalence/incidence 

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