New COL6A6 Variant Causes Autosomal Dominant Retinitis Pigmentosa in a Four-Generation Family.

Veronika Vaclavik, Leila Tiab,Young Joo Sun,Vinit B Mahajan,Alexandre Moulin,Nathalie Allaman-Pillet,Francis L Munier,Daniel F Schorderet

Investigative ophthalmology & visual science（2022）

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摘要

COL6A6 is widely expressed in human tissues and evolutionary conserved. It is thought to interact with a range of extracellular matrix components. Our findings suggest that this form of RP has long-term useful central visual acuity and a mild progression, which are important considerations for patient counseling.

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关键词

COL6A6, collagen type VI alpha 6 chain, inherited retinal disease, retinitis pigmentosa, rod-cone dystrophy, genotype-phenotype correlation

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