18Nov 2022
Natural history and biomarkers of retinal dystrophy caused by the biallelic TULP1 variant c.148delG

Natural history and biomarkers of retinal dystrophy caused by the biallelic TULP1 variant c.148delG

To report clinical features and potential disease markers of inherited retinal dystrophy (IRD) caused by the biallelic c.148delG variant in the tubby‐like protein 1 (TULP1) gene. The biallelic TULP1 variant c.148delG was associated with infantile and early childhood onset IRD. This study describes the progression of TULP1 IRD, suggesting a potential time window for therapeutic interventions. In addition, the width of the foveal EZ and the thickness of the foveal OPL‐ONL layers could serve as biomarkers of the disease stage.

  • #ophthalmology

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