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The disease received its name from a German ophthalmologist Friedrich Best who defined a pedigree living with various stages of the disease in 1905. The onset of symptoms and the severity of vision loss vary widely. The adult-onset form begins later, usually in middle age, and tends to cause relatively mild vision loss.
Stargardt's disease (juvenile macular degeneration, STGD) is an autosomal recessive retinal disorder characterized by juvenile-onset macular dystrophy, alterations of the peripheral retina, and subretinal deposition of lipofuscin-like material.
Occult macular dystrophy (OMD) is a rare inherited degradation of the retina, characterized by progressive loss of function in the most sensitive part of the central retina , the location of the highest concentration of light-sensitive cells (photoreceptors) but presenting no visible abnormality.
Stargardt disease; Other names: Stargardt macular dystrophy & degeneration, juvenile macular degeneration, fundus flavimaculatus: Optical coherence tomography is used for diagnosis of Stargardt's disease. Specialty: Ophthalmology: Symptoms: Loss of central vision, low visual acuity: Usual onset: Childhood: Duration: Lifelong: Causes: Genetic ...
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
EEM syndrome exhibits a combination of prominent symptoms and features. These include: ectodermal dysplasia (systemic malformations of ectodermal tissues), [1] ectrodactyly ("lobster claw" deformity in the hands and feet), [3] macular dystrophy (a progressive eye disease), [2] [3] syndactyly (webbed fingers or toes), [3] hypotrichosis (a type of hair-loss), [4] and dental abnormalities ().
However, the disease can seem to re-present a second time with further vision loss due to the early onset of presbyopia symptoms (i.e., difficulty in viewing objects up close). [1] DOA is characterized as affecting neurons called retinal ganglion cells (RGCs). This condition is due to mitochondrial dysfunction mediating the death of optic nerve ...
Dystrophy of the light-sensing cells of the eye may also occur in the rods as well, or in both the cones and the rods. A type of rod-cone dystrophy—where rod function decline is typically earlier or more pronounced than cone dystrophy—has been identified as a relatively common characteristic of Bardet–Biedl Syndrome. [1]