CHARGE association with congenital glaucoma due to maldevelopment of the anterior chamber angle.
OBJECTIVE
We examined the clinicopathologic features of a male infant with the CHARGE association and bilateral congenital glaucoma.


METHODS
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.
Katai
N
N
Department of Ophthalmology, Shinshu University School of Medicine, Matsumoto, Japan.
Urakawa
Y
Y
Sato
Y
Y
Miyanaga
K
K
Segawa
K
K
Yoshimura
N
N
D000015:Abnormalities, Multiple / Q000473:pathology; D000328:Adult; D000867:Anterior Chamber / Q000002:abnormalities* / Q000648:ultrastructure; D002754:Choanal Atresia / Q000209:etiology* / Q000473:pathology; D003103:Coloboma / Q000209:etiology* / Q000473:pathology; D004423:Ear / Q000002:abnormalities*; D017809:Fatal Outcome; D005260:Female; D005837:Genitalia, Male / Q000002:abnormalities*; D005901:Glaucoma / Q000151:congenital* / Q000175:diagnosis / Q000601:surgery; D006068:Gonioscopy; D006330:Heart Defects, Congenital / Q000209:etiology* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000209:etiology / Q000473:pathology; D008297:Male; D009432:Neural Crest / Q000473:pathology; D011247:Pregnancy; D014129:Trabecular Meshwork / Q000002:abnormalities / Q000648:ultrastructure; D014130:Trabeculectomy