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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.
Generally, diseases outlined within the ICD-10 codes H30-H36 within Chapter VII: Diseases of the eye, adnexa should be included in this category. Wikimedia Commons has media related to Disorders of choroid and retina .
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.
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 ...
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
Stargardt disease is the most common inherited single-gene retinal disease. [1] In terms of the first description of the disease, [2] it follows an autosomal recessive inheritance pattern, which has been later linked to bi-allelic ABCA4 gene variants (STGD1).
Bietti's crystalline dystrophy (BCD) is a rare autosomal recessive [2] eye disease named after G. B. Bietti. [ 3 ] BCD is a rare disease and appears to be more common in people with Asian ancestry.
Coats' disease is a rare extramuscular manifestation of facioscapulohumeral muscular dystrophy (FSHD). A single study reported it in 1 percent of FSHD patients, most often those with FSHD type 1 (FSHD1) with large D4Z4 deletions. [4]