Article

A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family

2022-08-17

Abstract excerpt

<h4>Background: </h4> Retinitis pigmentosa (RP) is one of the most frequent hereditary retinal diseases that often starts with night blindness and eventually leads to legal blindness. Our study aimed to identify the underlying genetic cause of autosomal recessive retinitis pigmentosa (arRP) in a consanguineous Pakistani family. Methods Following a detailed ophthalmological examination of the patients by an ophtha...

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Literature Corpus work: 0f48d876-4ed2-5af1-9470-90d9510e0715
DOI: 10.21203/rs.3.rs-1938089/v1

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