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

Monotonous

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X-linked ChoroideremiaChoroideremia (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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Blue Cone MonochromatismUnlike 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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Autosomal Dominant Retinitis PigmentosaMore than 70 genes (over 3000 mutations) are known to cause non-syndromic retinitis pigmentosa (RP), including autosomal dominant (AD), autosomal recessive (AR), X-linked, and simplex forms (inheritance not known). The AD form accounts for approximately 15–25% of cases; AR, 5–20%; X-linked, 5–15%; and simplex, 40–50%.

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Best Vitelliform Macular DystrophyBest 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:

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https://doi.org/10.1007/978-3-319-95046-4inherited retinal disease; genetic eye disorder; molecular genetics; genome testing; exon sequencing; gen

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Atlas of Inherited Retinal Diseases978-3-319-95046-4Series ISSN 0065-2598 Series E-ISSN 2214-8019

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Bedarf an Frühen Hilfen: Epidemiologie the early 2000s. The introduction of spectral-domain OCT in the mid-2000s and the later introduction of swept-source OCT provided faster scanning strategies and high-resolution images of the retina and choroid.

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