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Article

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

1 Dec 2018

Abstract excerpt

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 not satisfactory. CASE PRESENTATION: In this study, we presented a family with DHRD/ML disease and analyzed the...

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PMID: 30541486
DOI: 10.1186/s12886-018-0988-7

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