1/342. patients with CHARGE association: a model to study saccular function in the human.The term CHARGE association refers to a combination of congenital malformations, the mnemonic CHARGE designating the most frequently occurring anomalies in the constellation. "C" indicates coloboma of the retina, "H" heart defects, "A" choanal atresia, "R" retarded growth and/or central nervous system anomalies, "G" genital hypoplasia, and "E" ear anomalies and/or deafness. The inner ear anomaly consists of a specific form of labyrinthine dysplasia that includes Mondini dysplasia of the pars inferior (cochlea and saccule) and complete absence of the pars superior (utricle and semicircular canals). We observed the development of a child with CHARGE association up to the age of 10 years. There was complete absence of nystagmic response to bithermal caloric and rotatory pendular stimuli. A nystagmic reaction was elicited by the off-vertical axis rotation test, indicating stimulation of the saccular macula, the sole remaining vestibular sense organ in this dysplasia. This reaffirms that the saccule is a vestibular organ, even though it is located in the pars inferior. In spite of the severe bilateral vestibular deficit and coloboma of the retina, the child was able to walk at the age of 2 years. The delay in the development of walking was not due to central nervous system anomalies, as suggested by the "R" of the acronym CHARGE, but rather, to the severe sensorineural visual and vestibular deficits.- - - - - - - - - - ranking = 1keywords = coloboma (Clic here for more details about this article) |
2/342. Ocular malformations, moyamoya disease, and midline cranial defects: a distinct syndrome.PURPOSE: To report a 10-year-old girl with developmental anomalies of both optic disks, a chorioretinal coloboma, sphenopharyngeal meningoencephalocele, and moyamoya disease. methods: A full ophthalmologic examination, cranial magnetic resonance imaging and magnetic resonance angiography, and cerebral angiography were performed. RESULTS: The patient had a morning glory disk anomaly and microphthalmos of the right eye and optic nerve hypoplasia and retinochoroidal coloboma in the left eye. She had a midfacial cleft and an episode of seizures and a stroke. magnetic resonance imaging showed a sphenopharyngeal meningoencephalocele. magnetic resonance angiography and cerebral angiography demonstrated a pattern consistent with moyamoya disease. CONCLUSIONS: This patient had a distinct syndrome of optic disk, retinochoroidal, and carotid circulation anomalies with midline cranial defects. The recognition and treatment of the vascular abnormalities and cranial defects may prevent complications such as strokes that may occur during or after general anesthesia.- - - - - - - - - - ranking = 1keywords = coloboma (Clic here for more details about this article) |
3/342. Congenital duplication of the lens.A case of reduplication of the lens with uveal coloboma is described. This is a rare condition and, unlike the two previously reported cases, the other ocular structures and adnexae appeared normal.- - - - - - - - - - ranking = 0.5keywords = coloboma (Clic here for more details about this article) |
4/342. visual acuity in children with colobomatous defects.Examining a child with a colobomatous defect can be challenging. The most important predictor of visual outcome is identification of normal foveal anatomy. The clinician should first evaluate the child for the associated systemic conditions. The next step is to identify the presence of normal foveal structures in the involved eye(s). If present, a trial of amblyopia treatment should be initiated. Anisometropic amblyopia is common and should be addressed. Retinal detachments are common and add uncertainty to predicting visual acuity.- - - - - - - - - - ranking = 2.5keywords = coloboma (Clic here for more details about this article) |
5/342. The use of contact B mode ultrasound in pediatric ophthalmology.It has been shown that an ultrasound system such as the Bronson-Turner Contact B Mode can be added, fruitfully, to the armamentarium of the individual pediatric ophthalmologist. It can be used quickly and precisely with an ophthalmological training and without patient discomfort or anesthesia no matter what the age. Valuable anterior segment information can be readily gained without a waterbath. Examples are shown of children with opaque media who were found to have congenital cataracts and congenital aphakia, microphthalmos, PHPV, retinal anomalies and ectatic coloboma.- - - - - - - - - - ranking = 0.5keywords = coloboma (Clic here for more details about this article) |
6/342. Clinical characteristics of charge syndrome.charge syndrome, first described by Pagon, was named for its six major clinical features. They are: coloboma of the eye, heart defects, atresia of the choanae, retarded growth and development including CNS anomalies, genital hypoplasia and/or urinary tract anomalies, and ear anomalies and/or hearing loss. We experienced three cases of charge syndrome who displayed ocular coloboma, heart defects, retarded growth and development, and external ear anomalies, and we also review the previously reported literature concerning charge syndrome.- - - - - - - - - - ranking = 1keywords = coloboma (Clic here for more details about this article) |
7/342. microcephaly, colobomatous microphthalmia, short stature, and severe psychomotor retardation in two male cousins: a new MCA/MR syndrome?We report on 2 male cousins with minor facial anomalies, microcephaly, colobomatous microphthalmia, psychomotor retardation, short stature, and skeletal malformations. The children belong to a highly inbred family. We conclude that these patients have a previously undescribed autosomal-recessive syndrome.- - - - - - - - - - ranking = 2.5keywords = coloboma (Clic here for more details about this article) |
8/342. Brachycephalosyndactyly with ptosis, cataract, colobomas, and linear areas of skin depigmentation.A male patient with brachycephalosyndactyly syndrome associated with ocular and skin anomalies is reported and it is suggested that this patient has a previously undescribed disorder.- - - - - - - - - - ranking = 2keywords = coloboma (Clic here for more details about this article) |
9/342. Demonstration of exclusive cilioretinal vascular system supplying the retina in man: vacant discs.PURPOSE: To report the fluorescein angiographic and Doppler ultrasonographic findings in a patient with apparent exclusive ciliary vascular supply of the retina of both eyes. methods: Case report. RESULTS: The ophthalmoscopic appearance of all arterial vessels emanating from both discs was consistent with a cilioretinal origin. Retinal veins also entered each disc peripherally near the margin, leaving the central part of each disc vacant. fluorescein angiography showed filling of all arterial vessels simultaneous with the early-phase choroidal background flush bilaterally. color and power Doppler ultrasonographic imaging demonstrated unequivocally the absence of central retinal vessels within the optic nerves. Both discs were normal in size and excavated with central glial tissue present. The clinical history of monocular, alternating episodes of failing vision with partial resolution and the retinal pigmentation patterns bilaterally were consistent with, though not conclusive for, previous episodes of serous retinal detachments. Coincident systemic anomalies consisted of small kidneys with reduced renal parenchyma discovered on ultrasonography, along with chronic interstitial nephritis. CONCLUSIONS: The ophthalmoscopic appearance of optic discs with apparent all-cilioretinal vascular supply has been reported previously, but proof of the absence of central retinal vessels requires Doppler ultrasonographic evidence corroborated by angiographic findings, as exemplified in our case report. We describe the association of this disc anomaly with renal parenchymal disease and its distinction from colobomatous defects.- - - - - - - - - - ranking = 0.5keywords = coloboma (Clic here for more details about this article) |
10/342. Dysgenesis of the internal carotid artery associated with transsphenoidal encephalocele: a neural crest syndrome?We describe two original cases of internal carotid artery dysgenesis associated with a malformative spectrum, which includes transsphenoidal encephalocele, optic nerve coloboma, hypopituitarism, and hypertelorism. Cephalic neural crest cells migrate to various regions in the head and neck where they contribute to the development of structures as diverse as the anterior skull base, the walls of the craniofacial arteries, the forebrain, and the face. Data suggest that the link between these rare malformations is abnormal neural crest development.- - - - - - - - - - ranking = 0.5keywords = coloboma (Clic here for more details about this article) |
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