(A) Gene-based burden test of rare coding-altering mutations (max gnomAD AF ≤ 0.01). (B) Mutation burden analysis of rare pathogenic noncoding mutations (max gnomAD AF ≤ 0.001; predicted deleterious ...
The correct diagnosis is iridocorneal endothelial (ICE) syndrome. ICE syndrome should be in the differential diagnosis for any young to middle-aged adult who presents with an acquired unilateral ...
Immunofluorescence staining shows the layers of trabecular meshwork (red) and Schlemm’s canal endothelium (yellow) cells in a 3D “eye-on-a-chip” platform that mimics the flow of ocular fluids. The eye ...
Annually in the U.S., about 40,000 people with corneal endothelial cell dystrophy receive a corneal transplant. The ligand of melanocortin MC1 receptor (MC1R) has been shown to protect the corneal ...
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