Prognosticating Retinal Dystrophies in the Postgenomic Era
نویسنده
چکیده
I nherited retinal dystrophies are a genetically heterogeneous group of disorders. They can be classified in various ways including by clinical findings, electrophysiologic findings, or by inheritance patterns. One of the most important early steps in the clinical evaluation of retinal dystrophy patients is to obtain a family history. If possible, family members can be examined as well to form the inheritance pattern. This article discusses retinal dystrophies as grouped by inheritance patterns, and Table 1 lists causative genes. If there are no other family members affected, the disease is likely to have an autosomal recessive inheritance pattern. Rarely, a sporadic case could also mean a new autosomal dominant mutation has developed. The hallmarks of established autosomal dominant diseases are that every generation is affected and that a maleto-male transmission occurs. On the other hand, Xlinked recessive disorders almost exclusively occur in male patients and are transmitted maternally. The most uncommon inheritance pattern is X-linked dominance. These patients are almost always female, as Xlinked dominant traits are generally lethal in males. A careful family history is essential for diagnosis and genetic counseling.
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BACKGROUND Hereditary retinal dystrophies comprise a heterogeneous group of inherited retinal disorders with variable clinical presentation and multiple associated genes. Clinical diagnosis and differential diagnosis are difficult. The purpose of the current paper is to provide guidelines for an effective diagnostic approach. METHODS A literature search was carried out and our own data on cli...
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