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Related to Coloboma: CHARGE syndrome


A congenital, pathologic, or operative fissure, especially of the eye or eyelid.



a defect of the tissue of the eyelids or any internal membrane of the eyeball.

Congenital coloboma, usually found in the choroid or retina, originates with defects in the formation of the embryonic eye. Acquired coloboma develops as a result of punctures of the eyeball or surgical intervention (for example, iridectomy). Coloboma of the eyelids is often associated with other defects of facial development (harelip, cleft palate).

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Magnetic resonance imaging (MRI) of the inner ear with three-dimensional (3D) reconstruction revealed a defect in the LSCC, which was characterized by complete coloboma and interruption of the LSCC in proximity to the posterior SCC.
1 The abbreviation "CHARGE" characterizes the association of coloboma, heart anomalies, choanal atresia, and retardation of growth, genital and ear anomalies.
JS should be managed as early as possible before it results in serious complications such as decreased visual acuity due to pigmentary retinopathy, optic coloboma, retinal dystrophy, retinitis, nephropathy, renal cyst, elevated liver enzymes, hyperpnea, and apnea.
Treatment of sensory retinal detachment associated with optic nerve pit or coloboma.
The spectrum of ocular abnormalities reported in CZS includes maculopathies, such as a particular pattern of macular chorioretinal atrophy with a hyperpigmented ring that resembles torpedo maculopathy, abnormalities of the optic nerve (hypoplasia and severe cupping of the optic disk), microcornea, microphthalmia, falciform folds, pigmentary and hemorrhagic retinopathy, circumscribed chorioretinal atrophy, abnormal vascular development (tortuosity, early termination, absence), coloboma, lens subluxation, cataracts, and retinal dysplasia.
Objective: To evaluate the anatomical and visual outcome of surgical management of retinal detachment associated with chorio-retinal coloboma.
Aunado a lo anterior, tambien se reporta retardo del crecimiento intrauterino, baja estatura, micrognatia, pabellones auriculares grandes y de baja implantacion, blefarofimosis, cejas anchas y en "alzadas o en llamaradas", agenesia o hipoplasia de nervio optico, coloboma, puente nasal ancho, comunicacion interventricular, comunicacion interauricular, auricula izquierda hipoplasica, ventriculo unico, dilatacion de auricula, dilatacion de ventriculo, ventriculo izquierdo hipoplasico, estenosis de la valvula pulmonar, ductus arterioso permeable, agenesia de los vasos pulmonares, atresia de arteria pulmonar, displasia alveolar y capilar, tetralogia de Fallot, coartacion de aorta, tronco arterial comun, arco aortico derecho.
Ocular manifestations such as refractive errors, strabismus, coloboma of the eyelids, ectropion and amblyopia are also quite common in these patients.
Ophthalmologic abnormalities have been estimated to occur in 87% of cases of FND and include optic nerve anomalies, ptosis, exophthalmos, orbital asymmetry, microphthalmia, cataract, dermoid, nystagmus, coloboma of iris, choroidea and optic disk, refractive errors, amblyopia, and strabismus [12].
Ophthalmological findings include cataracts, asymmetrical eye sizes, intraocular calcifications, macular alterations, optic nerve abnormalities, iris coloboma, and lens subluxation.