CHARGE association with congenital glaucoma due to maldevelopment of the anterior chamber angle

Abstract

ABSTRACT.Purpose: We examined the clinicopathologic features of a male infant with the CHARGE association and bilateral congenital glaucoma. Methodc Trabeculectomy specimens were obtained from the anterior chamber angle and examined by light and electron microscopy. Results: Histopathologic examination of the trabeculectomy specimens showed immature development of the trabecular meshwork that was covered by the ciliary muscles. There were few intertrabecular spaces because the meshwork was almost completely filled with cells and extracellular substances. Deposition of a granular and/or homogeneous substance was observed in the subendothelial area of Schlemm's canal. Conclusions: Our patient exhibited features typical of the CHARGE association, but also had congenital glaucoma. We hypothesize that these clinical findings are all mediated by a neurocristopathic mechanism. Our findings suggest that the CHARGE association may predispose to anterior chamber angle maldevelopment, which can lead to congenital glaucoma.

Evaluations of Corneas in Eyes with Isolated Iris Coloboma

“…For this reason, glaucoma is frequently seen in cases with coloboma of the iris. 17,18 We enrolled in our study patients whose intraocular pressure was within normal limits; we excluded patients with glaucoma. Nevertheless, we detected a smaller angle and shallower anterior chamber depth in the eyes with colobomas.…”

Ocular manifestations of CHARGE syndrome in a pediatric cohort with genotype/phenotype analysis

“…Posterior colobomas are often complicated by retinal detachment due to weakness of the retina at the edges of the coloboma (Lingam et al, 2021), nevertheless there are only a few case reports of retinal detachment in CHARGE syndrome (El Hamichi et al, 2020; Russell‐Eggitt et al, 1990; Yu‐Chuan Kang et al, 2022) In contrast, we found that almost 10% of CHARGE patients had retinal detachment and all were associated with coloboma and underwent surgical repair. Likewise, there are only a few case reports of glaucoma in CHARGE syndrome (Benson et al, 2017; Katai et al, 1997). Two patients in our cohort had glaucoma with varying mechanisms underlying the elevated intraocular pressure.…”

CHARGE Syndrome Associated with Angle Closure despite High Myopia: A Case Report with Structural Suggestion

“…Approximately 70% of patients with CHARGE syndrome carry the CHD7 mutation [3,4]. The main ocular abnormalities in CHARGE syndrome are coloboma [5,6], microphthalmos [5,6], microcornea [5], ptosis [5,6], strabismus [6], nystagmus [6], and myopia [5,6]; regarding glaucoma, only congenital glaucoma has been reported [7,8]. Here we report the case of a patient with CHARGE syndrome having unilateral angle closure despite high myopia.…”