title: [Doyne retinal dystrophy--case report].
abstract: 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.
authors.affiliation: Clinica de Oftalmologie Craiova.
authors.forename: Mirela
authors.initials: M
authors.lastname: Preda
authors.forename: Carmen
authors.initials: C
authors.lastname: Damian
authors.forename: Rodica
authors.initials: R
authors.lastname: Mănescu
authors.forename: Livia
authors.initials: L
authors.lastname: Davidescu
authors.forename: Anca
authors.initials: A
authors.lastname: Irimia
authors.forename: Cristi Adelina
authors.initials: CA
authors.lastname: Ciucă
authors.forename: Mihaela
authors.initials: M
authors.lastname: Sollosy
mesh_terms: D000293:Adolescent; D003623:Dark Adaptation; D005136:Eye Proteins / Q000378:metabolism; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D008268:Macular Degeneration / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D009887:Ophthalmoscopy; D010375:Pedigree; D043562:Receptors, G-Protein-Coupled / Q000378:metabolism; D012162:Retinal Degeneration / Q000175:diagnosis; D014786:Vision Disorders / Q000209:etiology; D058609:Visual Field Tests
chemical_list: D005136:Eye Proteins; C089754:G protein-coupled receptor RGR; D043562:Receptors, G-Protein-Coupled