Abstract
Anophthalmia is a rare anomaly, the prevalence being around 3 in 100,000. It is defined as the absence of ocular tissue in the orbit. It can be seen in isolation or as part of a syndrome (in 1/3rd of cases) and can be unilateral or bilateral. Clinical anophthalmia is a term used to describe cases where the orbit seems to have no eyeball but histological studies may show evidence of ocular remnants. The present study reports the gross anatomical findings in a very rare case of unilateral and isolated anophthalmia of the right side. Despite the fact that the individual had only a rudimentary right optic nerve, an optic chiasm was developed and optic tracts were seen, but, interestingly, were asymmetric in the thickness, in such a manner that the right optic tract had increased thickness than the left optic tract. The details of the findings, with a brief review of anophthalmia and the mechanisms related to the morphogenesis of the chiasm and optic neural pathways are discussed. The exact embryogenesis of the pattern described in this case report is not clear, but this report will have implications in studies of axonal guidance and development of visual apparatus. A similar appearance has been reported in a follow up MRI study of early monocular enucleation in unilateral retinoblastoma cases, but the occurrence of asymmetric optic tracts in a case of unilateral anophthalmia is, to the best knowledge of the authors, a new finding in a very rare congenital anomaly.
Published Version
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