Isolated bull's eye maculopathy in two siblings with biallelic TULP1 variants.
Lauren Y Cao, Anna Duemler, Hua Gao et al.
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Case in brief
Two siblings were evaluated for bull’s eye maculopathy. Multimodal retinal imaging showed the macular finding, while full-field electroretinography and structural assessment found no functional or anatomic evidence of generalized photoreceptor degeneration. Retinal gene-panel testing identified the same biallelic compound heterozygous likely pathogenic TULP1 variants in both siblings: c.1376T>C (p.I459T) and c.1471T>C (p.F491L). The findings were interpreted as isolated bull’s eye maculopathy associated with TULP1 variants, extending the reported phenotype beyond generalized retinal dystrophy.
What made this case unusual
The siblings had isolated bull’s eye maculopathy despite no generalized photoreceptor pathology, an atypical phenotype for the range of TULP1-associated retinal conditions described in the report.
Diagnostic / clinical pearl
Bull’s eye maculopathy can occur with biallelic TULP1 variants even when full-field electroretinography and structural assessment show no generalized photoreceptor degeneration.