AI Networking Cookbook: Practical recipes for AI-assisted network automation and development
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The diversity of these approaches takes account of the broad spectrum of diseases that ranges from a disease limited to the macula to a generalized rod-cone dystrophy and perspectively opens up individualized treatment strategies depending on the genotype and phenotype.
Stargardt disease (STGD1) is the most common inherited macular dystrophy. It is caused by biallelic variants in the ABCA4 gene and leads to impaired retinoid transport within photoreceptors. Disruption of retinoid clearance results in the accumulation of lipofuscin in the retinal pigment epithelium (RPE), which in turn...
This case series examines the anatomical and functional phenotype of a variant in EFEMP1, p.Arg140Trp, and its associations with retinal degeneration.
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