Article

Five-Year Structural Progression in Monozygotic Twins with MAK Exon 3- Related Retinitis Pigmentosa

2026-04-09

Abstract excerpt

<title>Abstract</title> <p>Background Retinitis Pigmentosa (RP) associated with variants in the MAK gene is a relatively uncommon form of inherited retinal degeneration, although certain variants are more prevalent in specific populations. The only reported cases are linked to a homozygous Alu insertion in exon 9, whereas the clinical course and structural progression associated with exon 3 variants have not been...

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Literature Corpus work: e0f281bc-25a3-5f3e-8580-e62ae1f02f1c
DOI: 10.21203/rs.3.rs-9065183/v1

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