[Doyne retinal dystrophy--case report].
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.
Preda
Mirela
M
Clinica de Oftalmologie Craiova.
Damian
Carmen
C
Mănescu
Rodica
R
Davidescu
Livia
L
Irimia
Anca
A
Ciucă
Cristi Adelina
CA
Sollosy
Mihaela
M
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
D005136:Eye Proteins; C089754:G protein-coupled receptor RGR; D043562:Receptors, G-Protein-Coupled