Ocular albinism is a condition of abnormality in the cellular metabolism of the production of melanin in the ocular tissues. This condition, which is well known now, was first described by Nettleship1 in 1909. The fact that the female heterozygote carriers manifest changes in the fundus and irides is relatively new information. This disease is transmitted as an intermediate sex-linked recessive. Vogt2 in 1941 first described changes in female carriers in this disease. Falls4 in 1951 described the fundus picture in the carriers also. In addition Francois and Deweer5 in 1953, Ohrt6 in 1956, Gedda and Magistretti7 in 1956, Covelli8 in 1959, and Gillespie9 in 1961 described families with ocular albinism and carriers with characteristic changes in their fundi. Waardenburg10 in 1957 showed that female heterozygotes had irides which transilluminated and described a family which included carriers with fundus changes.
GILLESPIE FD, COVELLI B. Carriers of Ocular Albinism With and Without Ocular Changes. Arch Ophthalmol. 1963;70(2):209–213. doi:10.1001/archopht.1963.00960050211012
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