Article

Natural History of Retinitis Pigmentosa Associated With the C.4120c>t Eys Variant

2026-01-22

Abstract excerpt

<title>Abstract</title> <p> <bold>Purpose</bold> <italic>Eyes shut homolog</italic> ( <italic>EYS</italic> ) is the gene most frequently associated with autosomal recessive retinitis pigmentosa (RP) in Portugal. This study describes the progression of RP associated with the <italic>EYS</italic> (NM_001142800.2):c.4120C>T(p.Arg1374*) variant by correlating functional and structural measures with patient-rep...

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Literature Corpus work: b0eca08b-6f47-5cde-81a3-964ff0b4d9c6
DOI: 10.21203/rs.3.rs-8495428/v1

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