Article

New genetic feature associated with Fundus Albipunctatus: casae series of two spanish children with LRAT gene mutation

2025-09-22

Abstract excerpt

<title>Abstract</title> <p> <bold>Objective</bold> to describe the genetic mutation and its action mechanism in patients diagnosed with fundus albipunctatus (FAP) or retinitis punctata albescens (RPA). <bold>Subjects and methods</bold> we describe the clinical evolution and genetic findings of two female Spanish children of 14 and 16 years old who have been followed at the children’s hospital Sant Joan de Déu...

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Literature Corpus work: 49b6b438-fc93-5705-8583-3952e6e4407a
DOI: 10.21203/rs.3.rs-7208225/v1

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