Cases reported "Nystagmus, Congenital"

Filter by keywords:



Filtering documents. Please wait...

1/21. Periodic alternating nystagmus and congenital nystagmus: similarities in possibly inherited cases.

    In this paper, 2 patients, a daughter with periodic alternating nystagmus and a mother with congenital fixation nystagmus, are presented, and the similarities of the two disorders are discussed, not only in the eye movements, but also in their underlying abnormalities. The literature was reviewed, and the link between periodic alternating and congenital fixation nystagmus, which had been suggested based on circumstantial evidence, may be confirmed by our cases. The possible evidence of inheritance suggests that the two disorders share common abnormalities in visual processing.
- - - - - - - - - -
ranking = 1
keywords = nystagmus
(Clic here for more details about this article)

2/21. A novel PAX6 gene mutation (P118R) in a family with congenital nystagmus associated with a variant form of aniridia.

    BACKGROUND: A variety of PAX6 gene mutations were identified in patients with aniridia and/or allied ocular dysgenesis such as keratopathy, Peters' anomaly, foveal hypoplasia, and nystagmus. To scrutinize the etiology of a four-generation Japanese family with autosomal dominant nystagmus associated with anterior and posterior segment anomalies, the PAX6 gene was examined. patients AND methods: A Japanese family showed a variant aniridia phenotype in four successive generations. Affected individuals had congenital nystagmus, microcornea with shortened axial length, superficial peripheral corneal opacification with pannus formation, dislocated pupil, and foveal hypoplasia. Analysis of the PAX6 gene mutation was performed in affected and unaffected individuals. RESULTS: A novel missense mutation in the PAX6 gene was found in all affected individuals examined, but neither in unaffected individuals nor in unrelated healthy individuals. This mutation predicted a proline to arginine change at codon 118 (P118R) in the paired domain of PAX6 protein. CONCLUSION: The reported family illustrates that mutations in the PAX6 gene, in particular missense mutations, may manifest atypical clinical expression or forme fruste of aniridia.
- - - - - - - - - -
ranking = 0.63636363636364
keywords = nystagmus
(Clic here for more details about this article)

3/21. Periodic alternating nystagmus in two children with a similar, unusual phenotype.

    The report describes two unrelated male children, aged 6 and 8 years, respectively, with congenital periodic alternating nystagmus, congenital strabismus, microcephaly with cortical and cerebellar hypoplasia, mental retardation, low stature, and bat ears. Karyotypes were normal. Neuropediatric and ophthalmologic examinations, radiologic imaging of the brain, and laboratory analyses were performed to exclude other causes of periodic alternating nystagmus, such as ataxia-telangiectasia, acquired disease of the caudal brainstem or the cerebellum, albinism, or loss of vision resulting from cataract or vitreous hemorrhage. The similar morphologic and clinical features of both patients raise the possibility that they have an identical syndrome.
- - - - - - - - - -
ranking = 0.54545454545455
keywords = nystagmus
(Clic here for more details about this article)

4/21. Needle aspiration and endodiathermy treatment of epithelial inclusion cyst of the iris.

    PURPOSE: To report a case of recurrent epithelial inclusion cyst of the iris treated with needle aspiration and endodiathermy. methods: Case report. A 27-year-old man with a history of congenital cataracts, congenital nystagmus, cataract surgery in each eye at 3 years of age, and a long-standing iris epithelial cyst presented with decreased vision of 20/400 in the better seeing left eye. The reduced vision was diagnosed secondary to growth of the iris inclusion cyst over the pupil. RESULTS: The iris cyst, which occluded the chamber angle and pupil, was treated with aspiration, separation of the cyst wall from the cornea, and endodiathermy. Twelve months after cyst surgery, no evidence existed of epithelial cyst regrowth. The visual function was significantly improved, although Snellen visual acuity was unchanged at 20/400. CONCLUSION: The minimal invasiveness of needle aspiration and diathermy can result in a satisfactory outcome without undertaking more extensive and invasive surgical treatments for epithelial inclusion cysts of the anterior chamber.
- - - - - - - - - -
ranking = 0.090909090909091
keywords = nystagmus
(Clic here for more details about this article)

5/21. Laser in situ keratomileusis in an eye with congenital nystagmus.

    A 38-year-old man with congenital nystagmus had laser in situ keratomileusis (LASIK) to correct a spherical equivalent of -11.0 diopters (D) in the right eye and -10.0 D in the left eye. Baseline uncorrected visual acuity (UCVA) was 20/400 in both eyes, and best spectacle-corrected visual acuity was 20/60 in the right eye and 8/20 in the left. The procedure was performed using the Aesculap Meditec MEL 60 excimer laser system and a semicircular suction ring device. Six months after LASIK, the patient had a UCVA of 20/60 in the right eye and 8/20 in the left eye, with no improvement with spectacle correction. Laser in situ keratomileusis can be performed with a semicircular suction ring device to correct refractive errors in patients with congenital nystagmus, but more cases have to be performed to confirm that the device is safe and suitable for these patients.
- - - - - - - - - -
ranking = 0.54545454545455
keywords = nystagmus
(Clic here for more details about this article)

6/21. A girl without a chiasm: electrophysiologic and MRI evidence for the absence of crossing optic nerve fibers in a girl with a congenital nystagmus.

    An otherwise healthy 15-year-old girl with a congenital nystagmus was evaluated at our department using visual evoked potential recording and magnetic resonance imaging. She appears to have the unique isolated inborn absence of the optic chiasm, described only once before in two unrelated girls. Unlike these previously described cases, our patient does not seem to display a see-saw nystagmus.
- - - - - - - - - -
ranking = 0.54545454545455
keywords = nystagmus
(Clic here for more details about this article)

7/21. Deletion in the OA1 gene in a family with congenital X linked nystagmus.

    AIMS: To elucidate the molecular genetic defect of X linked congenital nystagmus associated with macular hypoplasia in three white males of a three generation family with clear features of ocular albinism in only one of them. methods: A three generation family with congenital nystagmus following X linked inheritance, and associated with macular hypoplasia was clinically examined (three males and two obligate carriers). Flash VEP was performed to look for albino misrouting. dna samples were subjected to PCR and subsequent analysis using SSCP for all exons of the OA1 gene. RT-PCR was performed on a mRNA preparation from a naevus from one patient. PCR products presenting divergent banding patterns in SSCP and from the RT-PCR were sequenced directly using cycle sequencing with fluorescent chain termination nucleotides and electrophoresis in a capillary sequencer. RESULTS: The index case (patient 1, IV.1) was diagnosed with X linked OA1 at the age of 3 months because of typical clinical features: congenital nystagmus, iris translucency, macular hypoplasia, fundus hypopigmentation, normal pigmentation of skin and hair, and typical carrier signs of OA1 in his mother and maternal grandmother. Pigmentation of the iris and fundus had increased at the last examination at age 4 years. Albino misrouting was present at this age. In the maternal uncle (III.3, 51 years) who also suffered from congenital nystagmus there was clear macular hypoplasia and stromal focal hypopigmentation of the iris but no iris translucency or fundus hypopigmentation. Patient 3 (II.3, 79 years, maternal uncle of patient III.3) had congenital nystagmus and was highly myopic. The fundus appearance was typical for excessive myopia including macular changes. The iris did not show any translucency. Molecular genetic analysis revealed a novel 14 bp deletion of the OA1 gene at nt816 in exon 6. The mutation abolishes four amino acids (Leu 253-Ile-Ile-Cys) and covers the splice site. nucleotides 814/815 are used as a new splice donor thus producing a frame shift in codon 252 and a new stop codon at codon 259. CONCLUSIONS: Macular hypoplasia without clinically detectable hypopigmentation as the only sign of X linked OA1 has been reported occasionally in African-American, Japanese, and white patients. The present family shows absent hypopigmentation in two patients of a white family with a deletion in the OA1 gene. We propose a model of OA1 that allows increase of pigmentation with age. We hypothesise that macular hypoplasia in all forms of albinism depends on the extracellular DOPA level during embryogenesis, and that in OA1 postnatal normalisation of the extracellular DOPA level due to delayed distribution and membrane budding/fusion of melanosomes in melanocytes results in increasing pigmentation.
- - - - - - - - - -
ranking = 0.81818181818182
keywords = nystagmus
(Clic here for more details about this article)

8/21. Clinical and oculographic response to Dexedrine in a patient with rod-cone dystrophy, exotropia, and congenital aperiodic alternating nystagmus.

    PURPOSE: We report a child with retinal dystrophy and congenital (a)periodic alternating nystagmus (APAN) who responded immediately with improved visual function and electrooculographic parameters after taking the psychopharmacologic stimulant Dexedrine Spansule (Glaxo-Smith Kline, NC, USA) as part of treatment for his attention Deficit Disorder. DESIGN: Interventional case report. methods: General ophthalmic, ocular motor and sensorimotor examinations and ocular motility recordings were performed before and after administration of the drug Dexedrine Spansule. RESULTS: The patient's binocular visual acuity improved only at 1.5 after medicine hours from 20/63 to 20/50, his exotropic deviation decreased from 25 to 10 prism diopters, his stereopsis increased from none to 800 sec/arc and ocular motility recordings showed increased foveation periods and more and lengthened APAN transition/null zones. CONCLUSION: For unexplained reasons the stimulant Dexedrine "paradoxically" improved the nystagmus, binocular function and visual acuity in this patient with retinal dystrophy and congenital nystagmus. This observation may be the basis for investigation of a new pharmacological treatment approach to patients with congenital nystagmus or strabismus.
- - - - - - - - - -
ranking = 0.72727272727273
keywords = nystagmus
(Clic here for more details about this article)

9/21. Onset of oscillopsia after visual maturation in patients with congenital nystagmus.

    PURPOSE: To describe the clinical and oculographic characteristics of a cohort of five patients with congenital nystagmus (CN) and late-onset oscillopsia caused by a coincidental decline in other visual and/or ocular motor functions. DESIGN: Retrospective, observational, case series. PARTICIPANTS: Five visually mature patients with CN and recent-onset oscillopsia were evaluated clinically and with motility recordings. INTERVENTION: Eye movement analysis was performed off-line by computer analysis of digitized data. Nystagmus was analyzed for null-zone characteristics, waveforms, frequency, amplitudes, and slow-phase drift velocity during foveation. Surgical and medical treatment of associated ocular conditions in four of five patients. MAIN OUTCOME MEASURES: Presence of symptomatic oscillopsia and average time during foveation periods of slow-phase drift velocity less than 10 degrees /second. RESULTS: One of the five patients had associated rod-cone dystrophy, and another had recurrence of childhood head posturing with return of an eccentric null zone. The remaining three patients had decompensated strabismus associated with their oscillopsia. All five patients complained of oscillopsia in primary position that was relieved in the four who received treatment. Treatment included prismatic correction in one patient and surgery in three. Recordings in primary position after treatment showed increased duration during foveation periods of slow-phase drift velocity less than 10 degrees /second and an overall decreased intensity (amplitude/frequency) of the nystagmus. CONCLUSIONS: Symptomatic oscillopsia in patients with CN is unusual. This visually disturbing symptom can be precipitated by new or changing associated visual sensory conditions (e.g., decompensating strabismus, retinal degeneration). If the associated conditions can be treated, then accompanying oscillopsia may be relieved.
- - - - - - - - - -
ranking = 0.54545454545455
keywords = nystagmus
(Clic here for more details about this article)

10/21. Clinical and oculographic response to Tenuate Dospan (diethylpropionate) in a patient with congenital nystagmus.

    PURPOSE: We report a female adult with congenital nystagmus who responded with improved visual function and oculographic parameters after taking the anorexic diet drug Tenuate Dospan (diethylproprionate; Watson laboratories, Inc., Corona, california). methods: Observational case report. Clinical ophthalmic examination and ocular motility recordings were performed before and after administration of the drug Tenuate Dospan. RESULTS: The binocular visual acuity of the patient improved from 20/70 to 20/50, her exotropic deviation decreased from 12 to 4 prism diopters, her stereopsis increased from none to 200 seconds/arc, and her ocular motility recordings showed increased foveation periods and a broadened null zone. CONCLUSION: For unexplained reasons, the anorexic stimulant Tenuate Dospan "paradoxically" improved the nystagmus and binocular function in this patient with congenital nystagmus. This observation may be the basis for investigation of a new pharmacological treatment approach to patients with congenital nystagmus or strabismus.
- - - - - - - - - -
ranking = 0.72727272727273
keywords = nystagmus
(Clic here for more details about this article)
| Next ->


Leave a message about 'Nystagmus, Congenital'


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