A novel CEP78 variant and rod-cone dystrophy in non-consanguineous siblings.
Dominic S Ting, Graham E Holder, Melissa C Tien et al.
✦ AI-curated · Sources linked
Case in brief
Two non-consanguineous Chinese male siblings presented with severe rod-cone dystrophy (RCD) at ages 7 and 42. Clinical examination, multimodal imaging, and electroretinogram confirmed the diagnosis. Genetic testing revealed both siblings had compound heterozygous variants in the CEP78 gene, including a novel loss of function mutation and a missense mutation classified as a Variant of Unknown Significance.
Diagnostic / clinical pearl
Clinicians should consider genetic testing for CEP78 mutations in patients presenting with rod-cone dystrophy, especially in cases with a family history.
Why it matters
This case highlights the importance of identifying novel genetic variants that may contribute to the understanding of rod-cone dystrophy and its inheritance patterns.