Monotonous
发表于 2025-3-28 18:13:55
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高度赞扬
发表于 2025-3-28 18:47:10
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.
FLASK
发表于 2025-3-29 00:23:22
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.
STELL
发表于 2025-3-29 06:33:15
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%.
FLAG
发表于 2025-3-29 07:21:04
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:
Alcove
发表于 2025-3-29 13:49:51
https://doi.org/10.1007/978-3-319-95046-4inherited retinal disease; genetic eye disorder; molecular genetics; genome testing; exon sequencing; gen
Measured
发表于 2025-3-29 16:08:06
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字谜游戏
发表于 2025-3-29 23:34:34
Atlas of Inherited Retinal Diseases978-3-319-95046-4Series ISSN 0065-2598 Series E-ISSN 2214-8019
压舱物
发表于 2025-3-30 02:33:10
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.
乞丐
发表于 2025-3-30 06:36:10
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