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Genetic spectrum, retinal phenotype, and peripapillary RNFL thickness in RPGR heterozygotes.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie - 1 Mar 2023

Marques João Pedro, Pinheiro Rosa, Carvalho Ana Luísa, Raimundo Miguel, Soares Mário, Melo Pedro, Murta Joaquim, Saraiva Jorge, Silva Rufino

Abstract excerpt

PURPOSE: Phenotypic heterogeneity with variable severity has been reported in female carriers of retinitis pigmentosa GTPase regulator (RPGR) mutations, including a male-type phenotype. A phenomenon not fully understood is peripapillary retinal nerve fiber layer (pRNFL) thickening in male patients with RPGR-associated X-linked retinitis pigmentosa, especially in the temporal sector. We aim to describe the genetic...

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PMID: 36050475
DOI: 10.1007/s00417-022-05809-0

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