PRPH2 mutation c.582-1G>A causing adult-onset macular dystrophy with a benign concentric annular macular dystrophy phenotype in a family

Karina Fernández-Berdasco¹; José Galvez-Olortegui^{1, 2}; Sussan’s Pamela Guillén-Lozada¹; Noelia García González³; Joaquín Castro-Navarro¹

DOI: 10.5935/0004-2749.20210478

1. Ophthalmology Department, Hospital Universitario Central de Asturias, Oviedo, Spain
2. Evidence Based Ophthalmology Unit (Oftalmoevidencia), Scientia Clinical and Epidemiological Research Institute, Trujillo, Peru
3. Genetics Department, Hospital Universitario Central de Asturias, Oviedo, Spain

Corresponding author

Karina Fernández Berdasco
E-mail: [email protected]

Funding: This study received no specific financial support.

Disclosure of potential conflicts of interest: None of the authors have any potential conflicts of interest to disclose.

Informed consent was obtained from all patients included in this study.

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How to cite this article:

Fernández-Berdasco K, Galvez-Olortegui^{1 J, 2} , Guillén-Lozada SP, González NG, Castro-Navarro J. Mutação c.582-1G>A do gene PRPH2 causando distrofia macular de início adulto com fenótipo de distrofia macular anular concêntrica benigna em uma família. Arq. Bras. Oftalmol. 2024;87(5):. 10.5935/0004-2749.20210478

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