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Doyne honeycomb retinal dystrophy/malattia leventinese induced by EFEMP1 mutation in a Chinese family

BACKGROUND: Doyne honeycomb retinal dystrophy (DHRD)/malattia leventinese (ML) is a rare allelic condition with massive drusen in the posterior fundus caused by EFEMP1 gene mutation. Patients showed decreased vision when the lesion affected the macular area. At present, the treatment efficiency is n...

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Detalles Bibliográficos
Autores principales: Zhang, Kaiyan, Sun, Xuyang, Chen, Yingying, Zhong, Qionglei, Lin, Lin, Gao, Yuan, Hong, Fanlin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292057/
https://www.ncbi.nlm.nih.gov/pubmed/30541486
http://dx.doi.org/10.1186/s12886-018-0988-7