CHARGE association: histopathological report of two cases and a review.

BACKGROUND

The CHARGE association (C = coloboma, H = heart disease, A = atresia or stenosis of the choanae, R = retarded growth and development or CNS anomalies, G = genital hypoplasia, and E = ear anomalies or deafness) is a rare, recently well-recognized clinical study. The ophthalmic abnormalities have been described in numerous reports, but the ocular histopathologic findings have not been presented in detail.

METHODS

We conducted gross and microscopic studies of eyes of two patients with the CHARGE association obtained postmortem.

RESULTS

The eyes in one case had a small, symmetrical, inferior nasal coloboma of the choroid. In the other case, extensive inferior nasal colobomas of the iris, ciliary body, and choroid with retinal dysplasia, ectopic retinal/glial tissue in the sclera and hypoplasia of the optic nerve head were present.

CONCLUSION

We document the histopathological features of eyes of two subjects with the CHARGE association. The abnormalities of these eyes were typical ocular colobomas presumably resulting from the failure of complete closure of the optic fissure.