December 2002
Volume 43, Issue 13
ARVO Annual Meeting Abstract  |   December 2002
Ophthalmic Heterogeneity In The Hermansky-pudlak Syndrome
Author Affiliations & Notes
  • ET Tsilou
    Ophthalmic Genetics and Visual Function Branch
    NEI NIH Bethesda MD
  • BI Rubin
    Ophthalmic Genetics and Visual Function Branch
    NEI NIH Bethesda MD
  • G Reed
    Biometry Branch
    NEI NIH Bethesda MD
  • L McCain
    Ophthalmic Genetics and Visual Function Branch
    NEI NIH Bethesda MD
  • W Gahl
    Section on Human Biochemical Genetics NICHD NIH Bethesda MD
  • MI Kaiser-Kupfer
    Ophthalmic Genetics and Visual Function Branch
    NEI NIH Bethesda MD
  • Footnotes
    Commercial Relationships   E.T. Tsilou, None; B.I. Rubin, None; G. Reed, None; L. McCain, None; W. Gahl, None; M.I. Kaiser-Kupfer, None.
Investigative Ophthalmology & Visual Science December 2002, Vol.43, 343. doi:
  • Views
  • Share
  • Tools
    • Alerts
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      ET Tsilou, BI Rubin, G Reed, L McCain, W Gahl, MI Kaiser-Kupfer; Ophthalmic Heterogeneity In The Hermansky-pudlak Syndrome . Invest. Ophthalmol. Vis. Sci. 2002;43(13):343.

      Download citation file:

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

  • Supplements

Abstract: : Purpose: Hermansky-Pudlak syndrome, a rare form of albinism, displays significant genetic heterogeneity. The purpose of our study was to compare the ophthalmic findings between the two major genetic subtypes, HPS-1 and HPS-3. Methods:16 patients with HPS-1 and 15 patients with HPS-3 underwent a complete ophthalmologic evaluation with best-corrected visual acuity, slit-lamp examination and fundoscopy. Using a standardized technique, photographs of iris transillumination and macular area were taken. Snellen visual acuity was converted to logMar visual acuity. Photographic gradings of iris transillumination and of macular transparency were assigned by two masked graders based on a previously established grading system. The two groups of patients were assessed independently by each grader two times with the same equipment. Disagreement between graders was resolved by a third independent grader. Results were evaluated using a mixed model analysis. Results:LogMar visual acuity was 0.94 (Snellen equivalent of 20/160-2) in the HPS-1 group and 0.74 (Snellen equivalent of 20/100-2) in the HPS-3 group (p=0.017). Iris grading was statistically significant for less translucence in the HPS-3 patients. HPS-3 patients also tended to have less transparent maculas but the difference was not statistically significant. Conclusion:Patients with HPS-3 have less severe ophthalmic manifestations than patients with HPS-1. Ophthalmologists treating patients with albinism should consider HPS in their differential diagnosis.

Keywords: 350 clinical (human) or epidemiologic studies: biostatistics/epidemiology methodology • 352 clinical (human) or epidemiologic studies: natural history 

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.