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Article

Coexistence of Retinitis Pigmentosa and Ataxia in Patients with PHARC, PCARP, and Oliver-McFarlane Syndromes.

International journal of molecular sciences - 25 May 2024

Wawrocka Anna, Walczak-Sztulpa Joanna, Kuszel Lukasz, Niedziela-Schwartz Zuzanna, Skorczyk-Werner Anna, Bernardczyk-Meller Jadwiga, Krawczynski Maciej R

Abstract excerpt

Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and retinal pigment epithelial atrophy, leading to severe visual impairment or blindness. RP can be classified as nonsyndromic or syndromic with complex clinical phenotypes. Three unrelated Polish probands affected with retinitis pigmentosa coexisting with cerebellar ataxia were recruited for this study. Clinical...

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Identifiers

PMID: 38891946
DOI: 10.3390/ijms25115759
PMCID: PMC11172263

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