Cases reported "Eye Abnormalities"

Filter by keywords:



Filtering documents. Please wait...

1/90. 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 = 1
keywords = nerve
(Clic here for more details about this article)

2/90. Anaesthesia for sturge-weber syndrome.

    A 6-month-old boy with sturge-weber syndrome was scheduled for congenital glaucoma and left buphthalmus surgery. physical examination revealed haemangioma throughout the right trigeminal nerve, congenital glaucoma, left megalocornea and bilateral buphthalmus. Examination of the eye was performed under general anaesthesia, was followed 2 days later by trabeculotomy. No premedication was given to the patient. After induction of anaesthesia with halothane, O2 and N2O muscle relaxation was achieved with atracurium and he was intubated gently. No difference was observed in vital signs during surgery. At the end of the operation he was given oxygen 100% and extubated, muscle relaxant reversal was with atropine and neostigmine. No complication was observed in the post-operative period.
- - - - - - - - - -
ranking = 1
keywords = nerve
(Clic here for more details about this article)

3/90. 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.
- - - - - - - - - -
ranking = 1
keywords = nerve
(Clic here for more details about this article)

4/90. 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.
- - - - - - - - - -
ranking = 1
keywords = nerve
(Clic here for more details about this article)

5/90. 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.
- - - - - - - - - -
ranking = 1
keywords = nerve
(Clic here for more details about this article)

6/90. 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.
- - - - - - - - - -
ranking = 1
keywords = nerve
(Clic here for more details about this article)

7/90. 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.
- - - - - - - - - -
ranking = 1
keywords = nerve
(Clic here for more details about this article)

8/90. 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.
- - - - - - - - - -
ranking = 3
keywords = nerve
(Clic here for more details about this article)

9/90. OCT in successful surgery of retinal detachment associated with optic nerve head pit.

    The authors describe the course of a patient with retinal detachment associated with optic nerve head pit for whom optical coherence tomography (OCT) was performed before and after vitrectomy and gas tamponade. An 18-year-old woman presented with macular elevation and a lamellar macular hole associated with optic nerve head pit. OCT showed that the retinal elevation consisted of both separation of the inner and outer retinal layers and detachment of the outer layers from the retinal pigment epithelium. After vitreous surgery and postoperative intraocular gas tamponade, the macular elevation gradually resolved, and OCT showed that improvement in central vision corresponded with flattening of the outer layer detachment in the fovea. OCT is a useful tool for monitoring the therapeutic effect of vitrectomy and gas tamponade for retinal detachment associated with optic nerve head pit.
- - - - - - - - - -
ranking = 7
keywords = nerve
(Clic here for more details about this article)

10/90. Unilateral cryptophthalmia.

    Two patients had the variable clinical features of unilateral cryptophthalmia. A 5-month-old boy had isolated unilateral cryptophthalmia: a small boney orbit, deformed optic canal, and a small amorphous mass with no normal intraocular tissue representing the globe. No extraocular muscles or optic nerve were identified by B-scan ultrasound or by computed axial tomography x-ray techniques. The second patient, a 13-year-old girl, had unilateral cryptophthalmia, and numerous systemic abnormalities including a head circumference less than the third percentile, severe mental retardation, hypoplasia of the left side of the head, and a left facial cleft deformity. She also had contractures of hips, knees and ankles, and bilateral spasticity and jerky movements. The left boney orbit was contracted and deformed and contained a small amorphous tissue with no ocular detail, as revealed by B-scan and computed tomography scan.
- - - - - - - - - -
ranking = 1
keywords = nerve
(Clic here for more details about this article)
| Next ->


Leave a message about 'Eye Abnormalities'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.