Milder ocular findings in Hermansky-Pudlak syndrome type 3 compared with Hermansky-Pudlak syndrome type 1.
OBJECTIVE
To compare clinically 2 different subtypes of Hermansky-Pudlak syndrome (HPS), type 1 (HPS-1) and type 3 (HPS-3).


METHODS
Cross-sectional study of a series of patients.


METHODS
Sixteen patients with HPS-1 and 14 patients with HPS-3 were studied.


METHODS
Complete eye examination, including best-corrected visual acuity and photographs and photographic grading of iris transillumination and macular transparency using a previously established grading system.


RESULTS
Snellen visual acuity was 20/160-2 in the HPS-1 group and 20/125+2 in the HPS-3 group (P = 0.017). Iris grading was statistically significant for less translucence in the HPS-3 patients. The HPS-3 patients also tended to have less transparent maculas, but the difference was not statistically significant.


CONCLUSIONS
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 even in the case of mild iris and macular hypopigmentation.
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA. tsiloue@nei.nih.gov
Ekaterini T
ET
Tsilou
Benjamin I
BI
Rubin
George F
GF
Reed
Lessie
L
McCain
Marjan
M
Huizing
James
J
White
Muriel I
MI
Kaiser-Kupfer
William
W
Gahl
D000293:Adolescent; D000328:Adult; D000368:Aged; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D022861:Hermanski-Pudlak Syndrome / Q000145:classification* / Q000235:genetics; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D007498:Iris / Q000473:pathology*; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D010641:Phenotype; D010781:Photography; D012160:Retina / Q000473:pathology*; D014792:Visual Acuity
D002352:Carrier Proteins; C102160:HPS1 protein, human; C432680:HPS3 protein, human; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins