Report expands TULP1 phenotype to isolated bull's eye maculopathy in siblings, indicating phenotypic heterogeneity.
This report expands the phenotypic spectrum of TULP1-associated pathology to include isolated bull's eye maculopathy. To the best of our knowledge, this is the first report of an isolated bull's eye maculopathy associated with a TULP1 molecular diagnosis. Our findings highlight the considerable phenotypic heterogeneity observed in TULP1-related retinal dystrophies.
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Cao et al. (2026) studied this question.
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