Which of the following disease shows autosomal dominant pattern of inheritance?
Correct Answer: Best's disease
Description: Best's disease is an autosomal dominant disorder with variable penetrance and expressivity. Bassen-Kornzwig disease is an autosomal recessive inherited disorder of lipoprotein metabolism. Gyrate atrophy is an autosomal recessive dystrophy with peripheral choroidal degeneration. Laurence-Moon-Biedle syndrome is also inherited in autosomal recessive manner. Best's disease: It is caused by a mutation in the BEST1 (VMD2) gene, which encodes a transmembrane calcium-sensitive chloride channel (bestrophin) expressed in retinal pigment epithelium. Fundus examination ranges from a mild pigmentary disturbance within the fovea to the typical vitelliform or "egg yoke" lesion located in the central macula. Visual acuity is good and electro retinogram is normal. An abnormal electro-oculogram (EOG) is the hallmark of the disease. Ref: Vaughan & Asbury's General Ophthalmology, 18 Edition, Chapter 10
Category:
Ophthalmology
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