Microscopic Examination
Microscopic examination of retinal pigment epithelium and skin melanocytes of patients suffering from OA1 reveal the presence of characteristic macromelanosomes, even though skin appears normal. Studies from Oa1 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.
Read more about this topic: Ocular Albinism Type 1
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