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  • Title: Stargardt's disease. Family studies.
    Author: Mäntyjärvi M, Tuppurainen K.
    Journal: Doc Ophthalmol; 1992; 79(1):79-89. PubMed ID: 1568424.
    Abstract:
    Three families including seven members with Stargardt's disease were examined. In addition to the affected family members, 43 of the relatives had an eye examination. In one family, there was a consanguineous marriage to be found. The heredity was most probably autosomal recessive in all of the three families. The ages of the seven patients with Stargardt's disease varied from 13 to 50 years, visual acuities from 0.05 to 1.0, and refraction from -8.5 to +2.25 D. In fundus, absent foveal reflex, atrophic macular spots and yellow perimacular flecks could be observed; one patient had also yellow flecks in the peripheral retina. In the visual fields, a central scotoma was found in five patients. Dark adaptation was abnormal in three patients and electroretinogram in one patient. All of the patients had defective red colour vision. In the fluoresceinangiogram, hyperfluorescent macular spots and dark choroid could be observed. The ophthalmological findings are discussed comparing them to the earlier observations of this disease.
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