ArticleCureus2026
Hereditary Congenital Cataract With Spastic Paraplegia Associated With a Missense PAX6 Variant (p.Arg26Trp).
Article in Cureus, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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5 authors.
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Abstract
To date, several genetic factors have been reported in cases presenting both congenital cataract (CC) and spastic paraplegia (SPG), but the overall genetic landscape of this condition remains insufficiently understood. Here, we describe the clinical, genetic, and functional findings in a single Japanese family presenting with hereditary CC and SPG. Affected individuals exhibited severe CC and mild SPG symptoms. Whole exome sequencing combined with stringent filtering revealed no pathogenic variants in the three known genes. Instead, we identified a heterozygous missense variant in
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