Dr.Krishna Sindhu, K21458
It is a rare primary retinal degeneration recognized as inborn error of metabolism with autosomal recessive pattern.Due to deficiency of pyridoxal phosphate dependent mitochondrial matrix enzyme ornithine aminotransferase mapped on chromosome 10q26.
It is characterised by hyperornithinemia,typical retinal and choroidal lesions,high myopia and with marked astigmatism and with early cataract formation.
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