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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Bibliographic Details
Published in:BMC Ophthalmol
Main Authors: Zhang, Kaiyan, Sun, Xuyang, Chen, Yingying, Zhong, Qionglei, Lin, Lin, Gao, Yuan, Hong, Fanlin
Format: Artigo
Language:Inglês
Published: BioMed Central 2018
Subjects:
Case Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6292057/
https://ncbi.nlm.nih.gov/pubmed/30541486
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12886-018-0988-7
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