Best’s Disease

An autosomal dominant retinal degeneration of variable penetration and early onset (age 3–15) caused by an accumulation of lipofuscin in the retinal pigment epithelium, resulting in degenerative changes in some patients, and secondary loss of photoreceptor cells, which occurs by age 40
Findings Fundoscopic appearance ranges from mild pigment defects to a vitelliform—egg yolk—appearance in the central macula; subsequent degeneration may result in subretinal neovascularization and hemorrhage, and severe macular scarring

单词	best’s disease
释义	Best’s Disease An autosomal dominant retinal degeneration of variable penetration and early onset (age 3–15) caused by an accumulation of lipofuscin in the retinal pigment epithelium, resulting in degenerative changes in some patients, and secondary loss of photoreceptor cells, which occurs by age 40 Findings Fundoscopic appearance ranges from mild pigment defects to a vitelliform—egg yolk—appearance in the central macula; subsequent degeneration may result in subretinal neovascularization and hemorrhage, and severe macular scarring
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