Doyne retinal dystrophy--case report
Preda, M.; Damian, C.; Mănescu, R.; Davidescu, L.; Irimia, A.; Ciucă, C.Adelina.; Sollosy, M.
Oftalmologia 51(2): 37-40
2007
ISSN/ISBN: 1220-0875 PMID: 17937032 Document Number: 607699
We present the case of a female patient, 16-years old, whose the fundus examination revealed the presence, in the macular region, of drusen type lesions; the clinical aspect completed with AFG, perimetry, dark adaptation, ERG resulted in the diagnosis of Doyne's honeycomb retinal dystrophy. The disorder, included in the Familial drusen, is due to an inborn error of metabolism localized the RPE. It seems that the defect is in an intercellular matrix protein which leads to the development of abnormal basement membranes.