Article
Visual and ocular findings in a family with X-linked cone dysfunction and protanopia.
Ophthalmic genetics - 1 Oct 2021
Holmquist Dag, Epstein David, Olsson Monica, Wissinger Bernd, Kohl Susanne, Hengstler Jürg, Tear-Fahnehjelm Kristina
Abstract excerpt
Background: Bornholm eye disease (BED) is a rare X-linked cone dysfunction disorder with high myopia, amblyopia, and color vision defects.Materials and methods: Visual and ocular outcomes in a family where two of five siblings had molecularly confirmed BED are reported. Ophthalmological assessments included best-corrected visual acuity (BCVA), color vision test, and optical coherence tomography (OCT). Medical...
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