Childhood macular dystrophies

2020-01-27 16:15

There are two types of macular retinal dystrophy. A form called Best disease usually appears in childhood and causes different amounts of vision loss. The second usually affects you in midadulthood. It causes vision loss that slowly gets worse. People with Best disease usually have a parent who has it.Macular dystrophies are a large number of rare, inherited conditions that affect central vision. They can appear in childhood, but some are not diagnosed until later in life. childhood macular dystrophies

Introduction. Hereditary dystrophies affecting the central retina in children and adolescents represent a heterogeneous group of diseases. Genetic alterations may be responsible for changes of the choroid (choroideremia), of the retinal pigment epithelium [RPE (Best's disease), of the photoreceptor outer segments (Stargardt's disease),

Oct 23, 2002 Macular dystrophy is a condition which appears earlier in life, and causes a reduction in central vision found in the macula, the central portion of the retina. Macular dystrophies are usually inherited in a predictable pattern within families. How can the answer be improved?childhood macular dystrophies Childhood Retinal Dystrophies The retina is a light sensitive tissue layer lining the inner back surface of the eye. The function of the retina is to change light signals coming into the eye into an image in the form of electrical signals.

Childhood macular dystrophies free

Best macular dystrophy. Best macular dystrophy (BMD), or Best disease, is an autosomal dominant condition caused by mutations in the BEST1 gene (OMIM# , formerly known as VMD2). 1, 2 The first family with this dystrophy was described by Friedrich Best in 1905. 3 Other designations for this disease have since been used, including vitelline dystrophy, 4 vitelliruptive degeneration, 5 and childhood macular dystrophies Purpose of review The aim of this review is to highlight recent advances in our understanding of the molecular genetic basis and phenotype of childhood onset macular dystrophies and to summarize current attempts to develop novel therapies for this group of disorders. . Recent findings The genes associated with the major causes of childhood onset macular dystrophies have now been identified Some forms of macular dystrophy appear in childhood, and other forms appear in adulthood. However, it sometimes is difficult to distinguish common macular degeneration from inherited macular dystrophy because of the similarity of symptoms, including decreased visual acuity and loss of central vision.

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