Open access
Widening the Spectrum of Disease Expression due to Heterozygous Variants in EFEMP1
Chloe M. Stanton
G. Ansari
Kristina Pfau
T. Lipsky
M. Halachev
Lukas Gerasimavicius
Camilla Drake
Joseph A. Marsh
C. Hayward
A. Sumaroka
B. Kousal
Petra Liskova
M. Quinodoz
Carlo Rivolta
Tomas S. Aleman
A. V. Cideciyan
Maximilian Pfau
Medicine
Abstract
This case series examines the anatomical and functional phenotype of a variant in EFEMP1, p.Arg140Trp, and its associations with retinal degeneration.