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三家族에 나타난 LEBER 視神經萎縮 10名에 對한 臨床的考察

Clinical Survey of 10 Cases of Leber´s Optic atrophy Among 3 Families

대한안과학회지 1965년 6권 1호 p.29 ~ 34
김상민 (  ) - 가톨릭醫大 眼科學敎室

柳珍馨 (  ) - 가톨릭醫大 眼科學敎室

Abstract


Since it had not been possible to find any formal report on this disease in Korea, we had chance to examine and to make accurate diagnosis, so that we would like to report 10 cases among 3 families.
Throughout the literature, the age of onset, the incidence, the mode of heredity, the etiology, the clinical picture, the prognosis, and the treatment were discussed. The results of this survey are as followings.
1. There were 5 males and 5 females in this material. This sex incidence showed rather similar with Japanese´s than European´s and American´s
2. As to the incidence of age of onset, Case Ⅰ & Ⅲ were between 15-22 years old, but Case Ⅱ were between 6-8 years old.
3. As to the visual´ acuity, most patients had from H.M. to 0.1 (20/200), and most patients were also associated with the color disturbance.
4. The ophthalmoscopic finding´ revealed only total or temporal pallor on the disc, otherwise normal macula and retinal vessels.
5. Visual field changes showed central scotoma in all cases which-were-examined.
6. Various laboratory examinations, X-ray examinations for skull & orbit, neurological examination, etc., showed no significant pathological finding in cases which were examined.
7. As to the mode of heredity, those three families revealed not a typical sex-linked recessive form, as far as we could observe in two generations of the pedigree.

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