Essential atrophy of the choroid is due to inborn error of metabolism of which amino acid?
Correct Answer: Ornithine
Description: Ans.D.) Ornithine. Ornithine aminotransferase deficiency (also known as gyrate atrophy of the choroid and retina) is an inborn error of ornithine metabolism, caused by decreased activity of the enzyme ornithine aminotransferase. Biochemically, it can be detected by elevated levels of ornithine in the blood. Clinically, it presents initially with poor night vision, which slowly progresses to total blindness. It is believed to be inherited in an autosomal recessive manner.
Category:
Ophthalmology
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