Detailed Clinical Phenotype and Molecular Genetic Findings in <i>CLN3</i>-Associated Isolated Retinal Degeneration

Abstract

This report describes detailed clinical, imaging, and genetic features of CLN3-associated nonsyndromic retinal degeneration. The age at onset and natural progression of retinal disease differs greatly between syndromic and nonsyndromic CLN3 disease, which may be associated with genotypic differences.