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