Experimental studies on medical treatments of retinal dystrophies with a particular focus on ABCA4 retinopathies

Aneta Ścieżyńska; Dominika Oziębło; Monika Ołdak

doi:10.5114/ko.2016.71659

POLSKI

eISSN: 2719-3209
ISSN: 0023-2157

Klinika Oczna / Acta Ophthalmologica Polonica

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1/2016
vol. 118

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abstract:

Review paper

Experimental studies on medical treatments of retinal dystrophies with a particular focus on ABCA4 retinopathies

Aneta Ścieżyńska

¹

,

Dominika Oziębło

²

,

Monika Ołdak

^{1, 2, 3}

Katedra i Zakład Histologii i Embriologii, Centrum Biostruktury, Warszawski Uniwersytet Medyczny
Zakład Genetyki, Instytut Fizjologii i Patologii Słuchu w Warszawie
Samodzielny Publiczny Kliniczny Szpital Okulistyczny w Warszawie

DOI: https://doi.org/10.5114/ko.2016.71659

Online publish date: 2017/11/29

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Retinal dystrophies are a group of hereditary diseases varying in clinical and etiological aspects. The most common central retinal dystrophy is Stargardt’s disease, which is mainly caused by mutations in the ABCA4 gene. Dysfunction of the ABCA4 gene product leads to accumulation of toxic metabolites of the visual cycle and consequently to the loss of photoreceptors and surrounding retinal pigment epithelial cells. This study summarizes various pharmacological attempts aimed at slowing the progression of retinal dystrophies, especially ABCA4 retinopathies.

keywords:

Experimental studies on medical treatments of retinal dystrophies with a particular focus on ABCA4 retinopathies

Aneta Ścieżyńska 1 , Dominika Oziębło 2 , Monika Ołdak 1, 2, 3

ABCA4 gene, Stargardt disease, retinal dystrophies, ramiprilat, dobesilate, phloroglucinol

Aneta Ścieżyńska

¹

,

Dominika Oziębło

²

,

Monika Ołdak

^{1, 2, 3}