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Stargardt's disease

Family studies

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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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Abbreviations

DA:

dark adaptation

ERG:

electroretinogram

FAG:

fluoresceinangiography

FM100:

Farnsworth-Munsell 100 hue test

MR:

matching range

RG:

red-green

SPP2:

Standard Pseudoisochromatic Plates part 2

VA:

visual acuity

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Authors and Affiliations

  1. Department of Ophthalmology, University Hospital of Kuopio, Kuopio, Finland

    Maija Mäntyjärvi MD & Kaija Tuppurainen

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  1. Maija Mäntyjärvi MD
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  2. Kaija Tuppurainen
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Mäntyjärvi, M., Tuppurainen, K. Stargardt's disease. Doc Ophthalmol 79, 79–89 (1992). https://doi.org/10.1007/BF00160134

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  • DOI: https://doi.org/10.1007/BF00160134

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