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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 .
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 ...
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
In 1909 he described 7 patients with a recessively inherited macular dystrophy, now known as Stargardt's disease, being described as a progressive and severe reduction of central vision, which develops in the first and second decade of life. [23] [2]
Retinoschisis is an eye disease characterized by the abnormal splitting of the retina's neurosensory layers, usually in the outer plexiform layer.Retinoschisis can be divided into degenerative forms which are very common and almost exclusively involve the peripheral retina and hereditary forms which are rare and involve the central retina and sometimes the peripheral retina.
Hypotrichosis with juvenile macular dystrophy is an autosomal recessive hereditary disease. [2] It is caused by a combination of mutations (compound heterozygosity) in the CDH3 gene, which codes for Cadherin-3 (also known as P-Cadherin), a calcium-binding protein that is responsible for cellular adhesion in various tissues. [citation needed]
Fundus of geographic atrophy. Geographic atrophy (GA), also known as atrophic age-related macular degeneration (AMD) or advanced dry AMD, is an advanced form of age-related macular degeneration that can result in the progressive and irreversible loss of retinal tissue (photoreceptors, retinal pigment epithelium, choriocapillaris) which can lead to a loss of central vision over time.
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.