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  • Title: Various fundus manifestations in a Japanese family with Best's vitelliform macular dystrophy.
    Author: Shibuya Y, Hayasaka S.
    Journal: Jpn J Ophthalmol; 1993; 37(4):478-84. PubMed ID: 8145393.
    Abstract:
    Recently we examined 7 members in one Japanese family with Best's vitelliform macular dystrophy. Five family members in three generations had abnormal electro-oculographic (light peak/dark trough ratio) and normal electroretinographic responses, but their fundus manifestations varied. The proband (a girl) had yellowish macular lesions in both eyes and a neovascular membrane and subretinal hemorrhage in the left macula. The proband's grandfather had mottled macular lesions bilaterally and a mottled extramacular lesion in the left eye. The proband's father had yellowish macular lesions in both eyes and an extramacular lesion in the right eye. The proband's sister had ophthalmoscopically normal fundi. The proband's brother had yellowish macular lesions bilaterally. We believe that finding a variety of fundus manifestations of Best's vitelliform macular dystrophy in one family, as reported in this study, may be uncommon.
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