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Longitudinal retinal phenotype and NEI VFQ-25-assessed vision-related quality of life in four Palestinian siblings with CFAP418 c.155+1G>A-related ciliopathy: a familial case series

2026-08-31

Abstract excerpt

<title>Abstract</title> <p> <bold>Background</bold> Biallelic CFAP418 variants cause a clinically broad autosomal-recessive ciliopathy that can include cone–rod or rod–cone retinal degeneration and variable Bardet–Biedl syndrome features. Longitudinal within-family descriptions paired with patient-reported visual function remain limited, and the recurrent splice-donor variant c.155 + 1G > A has only recently be...

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Literature Corpus work
4d92d4f2-6d64-5dbb-98d3-5e7aef634233
DOI
10.21203/rs.3.rs-10406399/v1
Open publication

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Longitudinal retinal phenotype and NEI VFQ-25-assessed vision-related quality of life in four Palestinian siblings with CFAP418 c.155+1G&gt;A-related ciliopathy: a familial case seriesDOI 10.21203/rs.3.rs-10406399/v1
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