Which of the following condition has autosomal dominant inheritance?
Correct Answer: Best disease
Description: Best disease (Juvenile-Onset Vitelliform Dystrophy) is an autosomal dominant disorder. Onset is usually in childhood. The fundoscopic appearance is variable and ranges from a mild pigmentary disturbance within the fovea to the typical vitelliform or "egg yoke" lesion located in the central macula. Visual acuity often remains good. An abnormal electro-oculogram (EOG) is the hallmark of the disease. Gyrate atrophy is an autosomal recessive disorder due to reduced activity of ornithine aminotransferase (OAT). Laurence Moon Biedl syndrome is inherited as autosomal recessive disorder. Bassen-Kornzweig disease is a rare autosomal recessive childhood disorder with the inherited metabolic disorders of the nervous system and commented upon with neuroacanthocytosis. Ref: Fletcher E.C., Chong N, Augsburger J.J., Correa Z.M. (2011). Chapter 10. Retina. In Riordan-Eva P, Cunningham E.T., Jr (Eds), Vaughan & Asbury's General Ophthalmology, 18e
Category:
Ophthalmology
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