周旻

　　复旦大学附属眼耳鼻喉科医院 200031

　　Purpose:To report a case of Hermansky-Pudlak Syndrome 1(HPS-1)and analysis the ocular clinical-pathology of HPS-1。

　　Method:Ophthalmic clinical and pathologic examination including transmission electron microscope was performed on the case。

　　Results:Major ocular pathologic findings consisted of posterior embryotoxon with a small cluster of adherent mesenchymal cells，moderate hyalinization of the ciliary body，foveal hypoplasia，multiple ocular hemorrhages，and marked hypopigmentation.The iris pigment epithelium displayed the most severe ultrastructural pigmentary defect。

　　Conclusions:This case offers the first example of ocular histopathology in HPS-1 that can contribute to a better understanding of this rare autosomal recessive oculocutaneous albinism disease.