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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Dominant inheritance of Stargardt's disease
1Indiana University, Indianapolis 46202.
Abstract:
Ten members of an extended family have come to the Indiana University (IU) Optometry Clinic in Indianapolis for low vision services. All 10 individuals had lost vision as the result of a juvenile onset hereditary macular degeneration. The funds appearance consisted of an atrophic macular degeneration surrounded by the characteristic yellowish flecks of Stargardt's disease. A study of the family tree revealed a clearly dominant mode of inheritance, whereas Stargardt's disease has traditionally been considered a recessive trait. We are presenting this family study as an unusual instance of dominant inheritance of Stargardt's disease.
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