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. 2021 Jan 28;139(3):278–291. doi: 10.1001/jamaophthalmol.2020.6089

Figure 3. Phenotype–Genotype Correlations in Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) and CLN3-Related Retina-Restricted Diseases.

Figure 3.

The patient harboring the p.(Arg405Trp) variant (in green) was recently reported to develop a late neurological involvement suggestive of JNCL. Blue indicates variants reported in both JNCL and retina-restricted disease. kb indicates kilobase pairs; Mb, megabase pairs; RD, retinal degeneration.

aNovel variant.