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.
Tsilou
Ekaterini T
ET
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA. tsiloue@nei.nih.gov
Rubin
Benjamin I
BI
Reed
George F
GF
McCain
Lessie
L
Huizing
Marjan
M
White
James
J
Kaiser-Kupfer
Muriel I
MI
Gahl
William
W
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