Microscopic examination of retinal pigment epithelium and skin pigment cells (melanocytes) of people affected by<unk>  reveal the presence of characteristic macromelanosomes, even though skin appears normal. Studies from<unk>  knock-out mice reveal that these giant melanosomes appear due to abnormal growth of a single melanosome and not due to aggregation or fusion of many melanosomes. These melanin macroglobules are probably formed due to failure of melanosomes to separate from the ER-golgi system with the accumulation of enzymes and other secretory proteins leading to an increase organelle size. However, Incerti, et al. contradict the above theory.
Ocular albinism type 1
Oculocutaneous albinism type I
Oculocutaneous albinism
Retinoschisis
Lafora disease
Leber congenital amaurosis
Bayoud disease
Tangier disease