Multimodal and longitudinal evaluation of novel phenotype-genotype correlation of CLN3 isolated retinal degeneration in an hispanic female with heterozygous mutations c.944dup and c.1305C>G.

Background: Inherited retinal disorders (IRDs) are a complex group of heritable diseases which are characterized by rod, cone, retinal pigment epithelium, or optic nerve dysfunction. Recently, mutations in have also been associated with isolated IRDs. Herein, a case with heterozygous variations that had not been previously linked to a -isolated retinal degeneration (IRD) phenotype in a Hispanic female and its multimodal imaging findings across a 10-year follow-up are presented.