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Mutations in the RDS and VMD2 genes cause vitelliform macular dystrophy. Mutations in the VMD2 gene are responsible for Best disease. Changes in either the VMD2 or RDS gene can cause the adult-onset form of vitelliform macular dystrophy; however, fewer than a quarter of cases result from mutations in these two genes.
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 ...
A mutation in the BEST1 gene leads to a loss of channel function and eventually retinal degeneration. [10] Although BVMD is an autosomal dominant form of macular dystrophy, expressivity varies within and between affected families although the overwhelming majority of affected families come from northern European descent.
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]
Macular degeneration, also known as age-related macular degeneration (AMD or ARMD), is a medical condition which may result in blurred or no vision in the center of the visual field. [1] Early on there are often no symptoms. [1] Over time, however, some people experience a gradual worsening of vision that may affect one or both eyes. [1]
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
Autosomal recessive bestrophinopathy is a rare genetic disorder characterized by central vision loss, retinopathy, absence of an electrooculogram light rise, and decreased electroretinogram.
Vision loss in dominant optic atrophy is due to optic nerve fiber loss from mitochondria dysfunction. Dominant optic atrophy is associated with mutation of the OPA1 gene [9] found on chromosome 3, region q28-qter. Also, 5 other chromosomal genes are described as causing optic atrophy: OPA2 (x-linked), OPA3 (dominant), OPA4 (dominant), OPA5 ...