Frequency and Clinical Pattern of Vitelliform Macular Dystrophy Caused by Mutations of Interphotoreceptor Matrix IMPG1 and IMPG2 Genes

Mutation analysis ofBEST1in Japanese patients with Best's vitelliform macular dystrophy

“…Recently, two new causal genes ( IMPG1 and IMPG2 ) have been identified in 13 patients (four families) with adult-onset vitelliform macular dystrophy in which EOG is normal or only slightly reduced 30 31. The two secreted proteins (IMPG1 and IMPG2), components of the inter photo receptor matrix, are synthesised by the photo receptors and located in the subretinal space.…”

Retinal structure in young patients aged 10 years or less with Best vitelliform macular dystrophy

“…Recently it has been shown that mutations in the IMPG (interphotoreceptor matrix proteoglycan 1) genes (IMPG1 and IMPG2) may cause macular dystrophy, 6 with vitelliform material located above the retinal pigment epithelium, and with preservation of this epithelium by SD-OCT [22,23]. However onset occurred later than in Best disease, after 30 years of age [22,23].…”

Novel <b><i>BEST1</i></b> Mutations and Special Clinical Features of Best Vitelliform Macular Dystrophy

“…Although AVMD can be distinguished from BVMD in most cases by its later onset, smaller lesion, slower progression, and normal or slightly subnormal electro-oculogram [14], these 2 diseases can have overlapping clinical features such as the round yellowish lesion and the inheritance pattern. Several studies have found mutations in BEST1 , PRPH2 , IMPG1 , or IMPG2 genes in a minority of AVMD cases and may be inherited in an autosomal dominant manner [4,8,15]. To date, 9 mutations in the BEST1 gene have been found in AVMD, 2 (p.Ala243Val, p.Thr6Pro) of which have also been reported in BVMD [8,16].…”

“…BVMD is an autosomal dominant disease caused by BEST1 mutations in most cases, and mutations of PRPH2, IMPG1 or IMPG2 genes in a few cases [3,4]. The BEST1 gene is on chromosome 11q13 containing 11 exons and encodes bestrophin-1 protein, which localizes to the basolateral plasma membrane of the retinal pigment epithelium (RPE).…”