This report identifies a novel genetic variant causing rod-cone dystrophy in siblings, suggesting a reclassification of another variant as pathogenic.
This report describes two siblings with RCD due to compound heterozygous variants in the CEP78 gene; one novel, the other currently classified as VUS. The data presented herein support the latter being reclassified as pathogenic.
No takes yet. Share an insight, caveat, or question.
Ting et al. (2026) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: