Unexpected Genetic Cause in Two Female Siblings with High Myopia and Reduced Visual Acuity

M N Preising1, C Friedburg1, W Bowl1

  • 1Department of Ophthalmology, Justus-Liebig University Giessen, University Medical Center Giessen and Marburg GmbH, Giessen Location, Germany.

Summary

This study identifies a novel CACNA1F gene mutation causing congenital stationary night blindness in two young sisters. This research is the first to report biallelic CACNA1F mutations in females with this condition.

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