Cases reported "Eye Abnormalities"

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1/143. 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.
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keywords = optic
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2/143. Ophthalmic findings in GAPO syndrome.

    BACKGROUND: The main manifestations of GAPO syndrome are growth retardation (G), alopecia (A), pseudoanodontia (P), and optic atrophy (O). CASES: This syndrome has been described in 21 patients from 16 different families. Four cases are from turkey and have been presented by Sayli and Gul. The purpose of our study is to document the cases from turkey and discuss the ophthalmological and neuro-ophthalmolgical findings of these and other reported GAPO cases. OBSERVATIONS: All patients in the literature and our 4 cases have severe growth retardation with delayed bone age in infancy, characteristic facial appearance (high and bossed forehead, midface hypoplasia), alopecia or severe hypotrichosis, and pseudoanodontia. optic atrophy was present in 1 of our cases and in 5 previous cases. glaucoma was present in 5 cases, including 2 of ours. Buphthalmia and keratopathy secondary to glaucoma were also observed. White eyelashes, seen only in our cases, may be a sign of "early senility." CONCLUSIONS: optic atrophy is not a constant finding in GAPO syndrome. glaucoma may accompany the ocular findings. This syndrome has been attributed to either ectodermal dysplasia or the accumulation of extracellular connective tissue matrix, due to an enzyme deficiency involved in its metabolism. Current studies show that an elastin defect and secondary changes in collagen may be important in the pathogenesis of the disease.
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ranking = 0.81965063097356
keywords = optic atrophy, optic, atrophy
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3/143. Retinal hamartoma in oral-facial-digital syndrome.

    Only recently have intraocular findings been described in oral-facial-digital syndrome (OFDS), including 5 cases of chorioretinal colobomas and 1 case of optic nerve coloboma. We report a case of a new ocular anomaly associated with this syndrome: a retinal hamartoma in a male infant with OFDS. The patient had bilateral retinal masses that were suspicious for retinoblastoma because of a family history of retinoblastoma. physical examination and imaging studies of the retinal masses could not differentiate between retinoblastoma, hamartoma, or persistent hyperplastic primary vitreous. Subsequent pathologic study of an enucleated globe was diagnostic of a retinal hamartoma. This case further illustrates the heterogeneity of ocular anomalies in OFDS and underscores the importance of a complete ophthalmologic evaluation in patients with this syndrome.
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keywords = optic
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4/143. Topless optic disk syndrome without maternal diabetes mellitus.

    PURPOSE: To describe four cases of topless optic disk syndrome without maternal diabetes mellitus. METHOD: Four patients had incidentally discovered inferior visual field defects. RESULTS: Ophthalmoscopic examinations in all four patients disclosed superiorly displaced entrances of the central retinal artery and thinning of the superior peripapillary nerve fiber layers. One patient had a superior peripapillary crescent with pallor of the superior disk. These clinical findings were consistent with a diagnosis of superior segmental optic hypoplasia, the topless disk. None of the patients had mothers who had diabetes. CONCLUSIONS: The topless optic disk syndrome can occur in the absence of maternal diabetes mellitus.
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ranking = 2.3333333333333
keywords = optic
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5/143. Morning Glory syndrome. MR imaging.

    We present two cases of the Morning Glory syndrome (MGS), with the most detailed MR images to date of this rare congenital optic nerve dysplasia. Though the embryology of this syndrome remains controversial, we feel the MR appearance can be diagnostic of the non-familial syndrome and be reliably distinguished from the similar appearing optic disc coloboma, which may be genetically inherited. MR imaging also allows the most sensitive detection and characterization of any associated intracranial anomalies, thus enabling more accurate determination of prognosis for the patient and their family.
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keywords = optic
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6/143. CHARGE association-related ocular pathology in a newborn with partial trisomy 19q and partial monosomy 21q, from a maternal translocation (19;21) (q13.1;q22.3).

    We report a novel case of partial trisomy 19q and concomitant partial monosomy 21q, segregated from a maternal translocation (19;21) (q13.1;q22.3), identified by spectral karyotyping. Clinical examination revealed dysmorphic features of the face and limbs, cleft palate, bilateral colobomas with associated bilateral colobomatous optic nerve cysts, hearing loss, and a cardiac anomaly. At autopsy, the dysmorphic features and cleft palate were confirmed. The ocular histopathology is described in detail and the cardiac anomaly was further specified. The combination of phenotype features is diagnostic of the CHARGE (coloboma, heart malformation, atresia choanae, retarded growth and development, and/or CNS anomalies, genital hypoplasia, ear anomalies and/or deafness) association. This case also has some phenotypic features in common with previous cases of partial trisomy 19q. The importance of a complete autopsy in cases with multiple congenital anomalies and/or genetic abnormalities is emphasized. This will allow optimal genetic counseling and contribute to our understanding of developmental biology.
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ranking = 0.33333333333333
keywords = optic
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7/143. Diphenylhydantoin teratogenicity: ocular manifestations and related deformities.

    This patient illustrates a classical case of what many pediatricians call the diphenylhydantoin teratogenic syndrome. It suggests the possibility of an additional ocular finding of retinoschisis and optic nerve abnormalities which could conceivably have a teratogenic basis. The effects of epilepsy and diphenylhydantoin on these formations is discussed.
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keywords = optic
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8/143. Bilateral large peripapillary venous and arterial loops.

    BACKGROUND: Peripapillary loops of venous origin are extremely rare. CASE: A 55-year-old woman was referred to us for further examination of peripapillary vascular abnormalities. OBSERVATIONS: Fundus examination and fluorescein angiography clearly showed a venous and an arterial peripapillary loop in both her right and left fundi. The venous loop in the right eye was in a large hairpin configuration, extending into the retina about 1 disc diameter from the optic disc. fluorescein angiography in the left eye revealed slow and irregular filling of dye into a venous loop that showed stasis of the bloodstream through the loop. Various retinal vascular abnormalities, including cilioretinal artery and triple branching of the retinal vein were also observed. CONCLUSION: The findings in this case of bilateral peripapillary venous and arterial loops and unilateral trifurcation of retinal vein suggest that there could be an association in the other retinal abnormalities. Periodic follow-up examinations seem necessary.
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ranking = 0.33333333333333
keywords = optic
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9/143. Pseudopapilledema in neurofibromatosis type 2.

    PURPOSE: To report a case of neurofibromatosis type 2 with pseudopapilledema secondary to a prepapillary gliotic membrane. METHOD: Case report. Results of an ocular examination and fluorescein angiography of a patient are described. RESULTS: Fundus examination of a 14-year-old male with neurofibromatosis type 2 revealed an irregular elevation of the optic nerve and a perifoveal epiretinal membrane in the right eye. fluorescein angiography demonstrated no autofluorescence nor leakage in the area of the optic nerve. CONCLUSION: The patient has pseudopapilledema secondary to an epiretinal membrane overlying the optic disk of the right eye. The possibility of pseudopapilledema should be considered when evaluating patients with neurofibromatosis type 2 and abnormal optic nerves.
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keywords = optic
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10/143. Atrial septal defect with interatrial aneurysm and Axenfeld-Rieger syndrome.

    PURPOSE: The aim of this presentation is to report a rare association between interatrial aneurysm and Axenfeld-Rieger syndrome. methods: We present a 20-year-old girl with Axenfeld-Rieger syndrome, in whom the diagnosis was confirmed by the facial dysmorphic appearance, slit-lamp examination, applanation tonometer, gonioscopy, and cardiovascular examination. RESULTS: The patient had prominent Schwalbe's line in all quadrants, iris atrophy, and secondary glaucoma in both eyes. The echocardiogram revealed an atrial septal defect with interatrial aneurysm. CONCLUSION: This is the first case report of coexisting Axenfeld-Rieger syndrome and interatrial aneurysm. We would like to stress that aneurysm can be a potential occult source of cerebral embolism.
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ranking = 0.011673585861178
keywords = atrophy
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