Titlebook: Atlas of Inherited Retinal Diseases; Stephen H. Tsang,Tarun Sharma Book 2018 Springer International Publishing AG, part of Springer Nature

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https://doi.org/10.1007/978-3-662-49262-8Fundus autofluorescence (FAF) imaging is a rapid and noninvasive technique to evaluate retinal pigment epithelial (RPE) function. The predominant source of FAF in the macula is lipofuscin granules.

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Konzept der Frühen Hilfen im WandelThe electrooculogram (EOG) assesses the function of the retinal pigment epithelium (RPE), and also the interaction between the RPE and photoreceptors. This is done by noting the changes in the corneoretinal standing potential (the difference between the retina and electropositive cornea) during the dark-adapted and light-adapted states.

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Fütterstörungen in der frühen KindheitX-linked retinitis pigmentosa (XLRP) is considered to be one of the most severe forms of retinitis pigmentosa (RP). It accounts for about 6–20% of all RP cases, including about 10% in the United States and 25% in England.

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Zur Diagnostik der RegulationsstörungenChoroideremia (CHM) is the most common X-linked hereditary choroidal dystrophy, characterized by progressive degeneration of the choriocapillaris, retinal pigment epithelium (RPE), and retina. Its prevalence is about 1 in 50,000–100,000 people.

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https://doi.org/10.1007/978-3-658-44386-3Unlike rod monochromatism, which is an autosomal recessive disease that affects all three types of cones, blue cone monochromatism (BCM) is an X-linked disease that affects only L-cones and M-cones. The rods and S-cones are normal. The estimated prevalence is 1 in 100,00 individuals.

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https://doi.org/10.1007/978-3-662-65238-1Best vitelliform macular dystrophy (VMD or BVMD) is one of the most common macular dystrophies, affecting 1 in 10,000 individuals. The clinical presentation varies, depending on the stage of the disease at which the patient presents, usually one of these five stages:

Alopecia-Areata

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