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CHARGE association: histopathological report of two cases and a review
N Hayashi1, M Valdes-Dapena, W R Green
1Eye Pathology Laboratory, Wilmer Ophthalmological Institute, Baltimore, Maryland, USA.
Insights
Ocular histopathology in CHARGE association reveals typical colobomas. These findings in the eyes of two patients are likely due to incomplete optic fissure closure.
Area of Science:
- Ophthalmology
- Genetics
- Developmental Biology
Background:
- CHARGE association is a rare disorder with multiple congenital anomalies.
- Ophthalmic manifestations are common, but detailed ocular histopathology is infrequently reported.
Observation:
- Gross and microscopic examination of eyes from two postmortem cases with CHARGE association were performed.
- One case exhibited a small, inferior nasal choroidal coloboma.
- The second case presented extensive inferior nasal colobomas involving iris, ciliary body, and choroid, with associated retinal dysplasia.
Findings:
- Histopathological analysis confirmed ocular colobomas in both subjects.
- Retinal dysplasia and ectopic retinal/glial tissue were observed in one case.
- Optic nerve head hypoplasia was noted in one case.
Implications:
- The observed ocular abnormalities are consistent with typical colobomas.
- These findings support the hypothesis that failure of complete optic fissure closure underlies the ocular defects in CHARGE association.
- Detailed histopathology aids in understanding the spectrum of ocular anomalies in this syndrome.
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.
