Early macular retinal ganglion cell loss in dominant optic atrophy: genotype-phenotype correlation

To assess the peripapillary retinal nerve fiber and macular retinal ganglion cells (RGCs) loss in patients with dominant optic atrophy (DOA) stratified by OPA1 mutation typeThirty-seven patients from 20 pedigrees with DOA harboring heterozygous mutations in the OPA1 gene and 45 healthy subjects were enrolled