October 11, 2025BMJ Open OphthalmologyOpen Access

Do variants in the CDH23 gene cause non-syndromic retinitis pigmentosa? Dual validation using whole exome sequencing and a zebrafish model

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Whole exome sequencing detects CDH23 variants in retinitis pigmentosa cases, highlighting possible pathogenic effects.

The study found that variants in the cdh23 gene cause significant retinal abnormalities in zebrafish.
Whole exome sequencing revealed compound heterozygous variants in a patient with progressive retinitis pigmentosa, including variants c.2572G>A and c.8344G>A.
Knockdown experiments in zebrafish indicated that cdh23 variants lead to a thinner photoreceptor layer and shorter photoreceptor cells.
This research provides the first evidence linking cdh23 gene variants to non-syndromic retinitis pigmentosa in a clinical and model organism context.

Fan et al. (2025) studied this question.

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