Article

Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variant

2024-07-19

Abstract excerpt

<title>Abstract</title> <p>Corneal dystrophies are phenotypically and genetically heterogeneous, often resulting in visual impairment caused by corneal opacification. We investigated the genetic cause of an autosomal dominant corneal stromal dystrophy in a pedigree with eight affected individuals in three generations. Affected individuals had diffuse central stromal opacity, with reduced visual acuity in older fa...

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Literature Corpus work: 6ea9d5e9-52f7-5650-83b8-19c0f6668964
DOI: 10.21203/rs.3.rs-4643942/v1

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