[Skip to Navigation]
Comment & Response
October 28, 2021

Challenges of Phenotype-Genotype Correlations in Rare Diseases

Author Affiliations
  • 1University of Rochester, Rochester, New York
  • 2Kennedy Krieger Institute, Baltimore, Maryland
JAMA Ophthalmol. 2021;139(12):1323. doi:10.1001/jamaophthalmol.2021.4372

To the Editor We were interested to read the recent article by Smirnov et al.1 This excellent article described ophthalmologic phenotypes in CLN3 disease. It also raised important questions about prior reports of genotype-phenotype associations in CLN3 disease.

The authors nicely illustrate the complexity of genotype-phenotype associations in CLN3 disease (Figure 31). However, some of the information included from the literature did not match our understanding of those same publications.

Add or change institution