Related Experiment Video
Updated: May 31, 2026
Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration
Published on: May 26, 2023
Macular dystrophy in Kabuki syndrome: a new clinical feature?
Dan Lindfield1, Michael F P Griffiths, Dorothy A Thompson
1Ophthalmology Department, Frimley Park Hospital, Portsmouth Road, Surrey, GU16 7UJ, United Kingdom. danlindfield@hotmail.com
Abstract:
Kabuki syndrome is a rare and genetically heterogenous condition that has both systemic and ophthalmic complications. Macular dystrophy has not previously been noted in conjunction with this syndrome. The authors present a 14-year-old girl with Kabuki syndrome with macular dystrophy and confirmatory electrodiagnostics.
More Related Videos
07:50A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
Published on: September 20, 2018
10:05Simultaneous Distinction of Monospecific and Mixed DFS70 Patterns During ANA Screening with a Novel HEp-2 ELITE/DFS70 Knockout Substrate
Published on: January 17, 2018