Vitelliform macular dystrophy is characterized by autosomal dominant inheritance and autofluorescent deposits within and beneath the retinal pigment epithelium. The onset of Juvenile vitelliform macular dystrophy (VMD2) is less than 30 years of age in most cases, whereas the onset of Adult-onset vitelliform macular dystrophy (AVMD) is between 30 and 50 years accompanied by slowly progressive visual loss.
Manes G, Meunier I, Avila-Fernandez A, Banfi S, Le Meur G, Zanlonghi X, Corton M, Simonelli F, Brabet P, Labesse G, Audo I, Mohand-Said S, Zeitz C, Sahel JA, Weber M, Dollfus H, Dhaenens CM, Allorge D, De Baere E, Koenekoop RK, Kohl S, Cremers FP, Hollyfield JG, Senechal A, Hebrard M, Bocquet B, Ayuso Garcia C, Hamel CP
タイトル
Mutations in IMPG1 cause vitelliform macular dystrophies.
