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

Abstract 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 pathological and genetic information. A 28-year-old female patient presented to our department due to impaired visual acuity for 10 years especially in the right eye with deterioration for 5 months. Gene sequencing was performed by MyGenostics (Peking, China). Gene sequencing results revealed heterozygous mutations in EFEMP1 gene, which were consistent with the DHRD/ ML. Single heterozygous mutation (c.1033C > T) was observed in each of the three blood samples. This missense mutation triggered p.R345W. Conclusions DHRD/ML is a rare disease associated with EFEMP1 gene mutation. Up to now, we are not sure whether these lesions are associated with the onset of DHRD/ML. In future, we hope to find out the exact relationship between them