Abstract
Abstract: :
Purpose: to determine the mutation in a Swedish family with Best’s disease and to investigate the effect of PDT of subretinal neovascularization in a young boy. Methods:All members in three generations of a family with VMD underwent a thorough ophthalmological examination, including best–corrected visual acuity, visual field, colour vision, biomicroscopy of the posterior segment (dilated), fundus photography and electro–oculography (EOG). For the proband, a nine–year old boy, his father and grandfather, dark adaptation test, angiography and electro–retinography (ERG) were also performed. After PCR amplification, the genotype was determined by cleavage with restriction enzyme, specific for the W93c allele. Results: Four family members had an abnormal EOG response. All showed the W93C mutation in the VMD2 gene. Visual acuity ranged from 20/20 to 20/250. The fundus manifestations varied from minor pigmentary changes to chorioretinal atrophy. In cases with chorioretinal atrophy, the visual field was effected. In other respects, the examinations were normal. In the proband, visual acuity decreased during follow–up from 20/40 to 20/250 due to a subfoveal neovascularization with haemorrhage and PDT with Visudyne was started. After 3 treatments, visual acuity had increased to 20/80. Conclusions: The mutation was determined to be W93C, the most common mutation in VMD in Sweden. In a nine–year old boy with subretinal neovascularization, PDT seems to be beneficial.
Keywords: photodynamic therapy • choroid: neovascularization • gene mapping