macular dystrophy

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A group of disorders in which there is patchy (macular) degeneration of retinal cells or other parts of the visual system. Juvenile-onset vitelliform macular dystrophy (Best's disease) is caused by mutation in the bestrophin gene. The adult form of vitelliform macular dystrophy is considered distinct and is usually due to mutation in the peripherin 2 gene, which is responsible for some forms of retinitis pigmentosa, although some cases have mutations in bestrophin. Type I and type II macular corneal dystrophy (MCD) are due to mutations in the gene for a specific sulphotransferase gene involved in extracellular matrix biosynthesis. See also Stargardt disease.

Subjects: Medicine and Health.

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