- - CAAHD, CSS, EPM1A, IVA, JBS, JBTS1, JBTS13, KTZS, LCCS1, LGMD2I;MDDGC5, MCLMR, PSORS, USH3B brith a term, weight SD 0.5; inguinal hernia bilateral, 3 hypomelanitic maculae
[databases.lovd.nl]
[…] severity and onset Foot deformities Gait difficulties Key investigations Pure tone audiometry Electrophysiology Fundus autofluorescence (FAF): a ring of hyper-AF in the macula
[gene.vision]
Surrounding the fovea is the macula which is rich in cones, but cones are also scattered throughout the rest of the retina.
[boystownhospital.org]