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

Challenges of Phenotype-Genotype Correlations in Rare Diseases—Reply

Author Affiliations
  • 1Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France
  • 2Université de Lille, Faculté de Médecine, Lille, France
  • 3Exploration de la Vision et Neuro-Ophtalmologie, CHU de Lille, Lille, France
  • 4Centre Hospitalier National d’Ophtalmologie des Quinze-Vingts, INSERM-DHOS CIC 1423, Paris, France
  • 5Institute of Ophthalmology, University College London, London, United Kingdom
JAMA Ophthalmol. 2021;139(12):1323-1324. doi:10.1001/jamaophthalmol.2021.4375

In Reply We recognize that p.Gly187Ala1 and p.Val330Phe2 variants in trans with the common 1–kilobase pair deletion were erroneously classified in the severe neuronal ceroid lipofuscinosis (NCL) group and should be considered to be associated with the classic CLN3-associated NCL. We apologize for this error in our article.3 This error was discovered by Masten et al and reported in their comment on our article.

Add or change institution