Albinism with Co-Existing Anomalies of the Central Nervous System.
نویسنده
چکیده
Pigment in animal tissue results from the union of 2 substances: a colorless chromogen and a ferment or enzyme which activates the chromogen. Where either of these is absent there is no pigment, or, if present but in insufficient amount, the tissue is lacking in pigment in a proportionate degree. Lack of pigment in tissue is known as albinism. It is a hereditary genetic defect. The entire body may be affected, or only certain parts may be albinotic, such as the hair, skin, or eyes. A portion of one organ may be albinotic without involving the whole. Albinism is found among all vertebrates and in plants. I was unable to find any reference to albinism in invertebrates, but I know of no reason why it should not occur in the members of this division of zoology. Albinism was known in antiquity. It was described by Hippocrates and was regarded by him as an inherited condition. The most complete investigation of the subject was conducted by Pearson, Nettleship and Usher, who published a 5-volume work in 1911. Their research was not limited to the eye, but considered albinism of all parts of the body. In their discussion of partial albinism they refer to a white forelock in several generations of a family. In my own experience this was witnessed in 3 generations in direct lineage. A patient, aged 20 years, had a white forelock approximately 2 cm. in width which extended back from the hairline in the middle of the forehead for about 3 cm. The same condition was present in the mother and grandmother. Other tissues had normal pigment. The eyes presented no
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ورودعنوان ژورنال:
- Transactions of the American Ophthalmological Society
دوره 42 شماره
صفحات -
تاریخ انتشار 1944