Charge Syndrome Retina

Charge Syndrome

Figure 2.48. This is another term infant with severe bilateral microphthalmia. The globes are small, and vision is extremely poor. There are several forms of microphthalmia including those associated with congenital infection, chromosomal abnormalities, and the CHARGE syndrome.

Figure 2.47. At term birth, the normal ocular sagittal length is 17.5 mm, and the normal corneal diameter is 10 mm. This is a term infant with very severe bilateral microphthalmia. The globes are virtually absent and the infant is totally blind. This may occur unilaterally or bilaterally and is often associated with other anomalies of the central nervous system.

Figure 2.48. This is another term infant with severe bilateral microphthalmia. The globes are small, and vision is extremely poor. There are several forms of microphthalmia including those associated with congenital infection, chromosomal abnormalities, and the CHARGE syndrome.

Figure 2.49. Colobomatous microph-thalmia may be inherited as an autosomal dominant disorder with extremely variable expressivity. On the left is severe microphthalmia presenting as a cystic eye. On the right is a coloboma of the optic nerve with continuous coloboma of the choroid and retina which was present in another member of the same family.

Figure 2.50. On the left is a minimal coloboma of the optic nerve with peripheral coloboma of the choroid and retina in another member of the same family. On the right is a very minimal coloboma of the choroid and retina adjacent to the normal optic nerve in a member of the same family who was totally unaware that she carried the gene for autosomal dominant colobomatous microphthalmia.

Figure 2.49. Colobomatous microph-thalmia may be inherited as an autosomal dominant disorder with extremely variable expressivity. On the left is severe microphthalmia presenting as a cystic eye. On the right is a coloboma of the optic nerve with continuous coloboma of the choroid and retina which was present in another member of the same family.

Microphthalmia Infant
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