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Vitelliform macular dystrophy is an irregular autosomal dominant eye disorder which can cause progressive vision loss. [1] This disorder affects the retina , specifically cells in a small area near the center of the retina called the macula .
Best's vitelliform macular dystrophy (BVMD) is one of the most common Best1-associated diseases. BVMD typically becomes noticeable in children and is represented by the buildup of lipofuscin (lipid residuals) lesions in the eye.
Bestrophins are transmembrane proteins that contain a homologous region rich in aromatic residues, including an invariant arg-phe-pro motif. Mutation in one of the family members (bestrophin 1) is associated with vitelliform macular dystrophy. The bestrophin 2 gene is mainly expressed in the non-pigmented ciliary epithelium and colon. [7] [8]
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Macular dystrophy may refer to any of these eye diseases: Macular corneal dystrophy, a rare pathological condition; Macular degeneration, or age-related macular degeneration; Vitelliform macular dystrophy, an irregular autosomal dominant eye disorder
Age-Related Macular Degeneration is a degenerative maculopathy associated with progressive sight loss. It is characterised by changes in pigmentation in the Retinal Pigment Epithelium, the appearance of drusen on the retina of the eye and choroidal neovascularization. AMD has two forms; 'dry' or atrophic/non-exudative AMD, and 'wet' or ...
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19133 Ensembl ENSG00000112619 ENSMUSG00000023978 UniProt P23942 P15499 RefSeq (mRNA) NM_000322 NM_008938 RefSeq (protein) NP_000313 NP_032964 Location (UCSC) Chr 6: 42.7 – 42.72 Mb Chr 17: 47.22 – 47.24 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Peripherin-2 is a protein, that in humans is encoded by the PRPH2 gene. Peripherin-2 is found in the rod and cone cells of the ...