Genetic Diseases, X-Linked ; Humans ; Nystagmus, Congenital

No abstract available.
Nystagmus, Congenital ; Turner Syndrome

PURPOSE: Nystagmus is not considered a good indication for laser refractive surgery. However, we report 2 cases with congenital nystagmus that underwent a safe procedure due to improvement of laser firing rate and eye tracker. CASE SUMMARY: Two myopic patients with congenital nystagmus underwent transepithelial photorefractive keratectomy with the Schwind Amaris laser platform using an eye tracker. The laser ablations were performed under topical anesthesia without any mechanical eyeball fixation. A 30-year-old man with a history of muscle surgery at 11 years of age had a conjugate, 4 Hz right beating jerk nystagmus. His preoperative refractive error was -8.50 D sph = -0.50 D cyl x 160degrees x 20/30) in the right eye, and -6.00 D sph = -0.75 D cyl x 30degrees x 20/25) in the left eye. A 19-year-old man had a conjugate, 3 Hz pendular nystagmus. His refractive error was -5.25 D sph = -2.50 cyl x 175degrees x 20/30) in the right eye, and -4.25 D sph = -2.50 D cyl x 180degrees x 20/30) in the left eye. Both patients underwent a well-centered laser ablation without any problems. Six months after surgery, uncorrected visual acuity was 20/25 or better, and refractive error was within +/-0.50 D in all 4 eyes. In addition, the 19-year-old man showed decreased nystagmus amplitude. CONCLUSIONS: In some patients with congenital nystagmus, laser refractive surgery may be safely and accurately performed under topical anesthesia using an active tracking system. The best uncorrected visual acuity may improve in certain patients postoperatively.
Adult ; Anesthesia ; Fires ; Humans ; Laser Therapy ; Nystagmus, Congenital* ; Nystagmus, Pathologic ; Photorefractive Keratectomy ; Refractive Errors ; Refractive Surgical Procedures* ; Visual Acuity ; Young Adult

OBJECTIVETo study the mutation of FRMD7 gene in a Chinese family with congenital idiopathic nystagmus.

METHODSForty-six individuals in the Chinese family with congenital idiopathic nystagmus, including 16 patients, 19 normal siblings and 11 spouses, were investigated under informed consent. Genomic DNA of all 46 members was isolated by standard protocol. The X-linked inherited pattern was ascertained by investigating the history of the family members and the clinical feature of each individual. The genome scan on X chromosome was performed after PCR amplification for microsatellite markers. LOD scores were calculated with Linkage 5.1. Direct DNA sequence analysis was carried out to find the gene mutation responsible for the disease.

RESULTSA maximum LOD score of 8.55 (theta=0) was obtained with polymorphic marker DXS1047. Haplotype construction of the family defined the disease interval between DXS8059 and DXS8033. Direct DNA sequence analysis revealed a heterozygous mutation of G990T in exon 9 of the FRMD7 gene in all patients, which was not present in unaffected family members.

CONCLUSIONCongenital nystagmus is a clinically and genetically heterogeneous ocular movement disease. The mutation of G990T of the FRMD7 gene is the underlying molecular pathogenesis for this family with congenital nystagmus.

Asian Continental Ancestry Group ; genetics ; Base Sequence ; Cytoskeletal Proteins ; genetics ; Exons ; genetics ; Family ; Female ; Genome, Human ; genetics ; Genomics ; Humans ; Male ; Membrane Proteins ; genetics ; Microsatellite Repeats ; genetics ; Mutation ; Nystagmus, Congenital ; genetics ; Pedigree ; Sequence Analysis, DNA

PURPOSE: To investigate the general clinical features of congenital cataracts and to determine their relationship to visual prognosis and surgical complications according to age at operation and surgical procedure adopted. METHOD: We retrospectively evaluated 92 eyes in 61 patients with congenital cataracts who underwent cataract surgery between January 1996 and December 2006. The demographic data, surgical technique, post-operative complications, and final visual prognosis were evaluated. RESULTS: The average age at surgery was 3.17 years (range 1 month to 11 years), and the mean follow-up was 40.02 months (range 6 to 46 months). Of the 56 eyes that could be checked for visual acuity after cataract extraction, 29 (51.7%) had a BCVA of > or =0.5 at last visit. Unilateral congenital cataracts (p=0.025) and congenital cataracts with strabismus (p=0.019) showed significantly poorer visual outcomes. Patients with nystagmus also experienced a poor visual outcome; 6 patients (67%) had a BCVA of <0.1. Posterior cataracts had the worst visual prognosis (p=0.004). No statistically significant differences in posterior capsular opacity (p=0.901) or synechia formation (p=0.449) were observed between surgical techniques, but children younger than one year showed a higher tendency for PCO and synechia formation. CONCLUSIONS: Anterior vitrectomy did not reduce postoperative complications. Higher rates of complications (PCO, posterior synechia) developed in children younger than one year of age.
Capsulorhexis/methods ; Cataract/classification/*congenital ; Cataract Extraction/*methods ; Child ; Child, Preschool ; Female ; Follow-Up Studies ; Humans ; Infant ; *Lens Implantation, Intraocular ; Male ; Nystagmus, Pathologic/complications ; Postoperative Complications ; Prognosis ; Retrospective Studies ; Strabismus/complications ; Vision Disorders/rehabilitation ; Visual Acuity/physiology ; Vitrectomy

Canavan's disease is a hereditary disease that causes development delay by demyelinization of white matter in brain. The cardinal symptoms of Canavan's disease are head-lag, macrocephaly, developmental delay, blindness, epilepsy and hypotonia. Seven-month old baby delivered by Caesarean section at gestational age 40 weeks was complaining of an inability to keep head up. In past history, he was treated for congenital nystagmus. Chromosomal study was normal. Brain MRI showed delay of myelination of 5 months old. During neurodevelopment treatment in our hospital about development delay, macrocephaly was observed with head circumference 46 cm (90~97 percentile). He couldn't control his head yet. Brain MRI was done when he was 12-month old. There was no myelination in whole brain compared with that of same age group. The peak elevation of N-acetylaspartic acid (NAA) was showed in magnetic resonance spectroscopy (MRS). NAA was detected as high as 29.7 mmol/molCr, we diagnosed him as Canavan's disease. So we reported this case with a brief review of related literatures.
Aspartic Acid ; Blindness ; Brain ; Cesarean Section ; Epilepsy ; Female ; Genetic Diseases, Inborn ; Gestational Age ; Head ; Humans ; Macrocephaly ; Magnetic Resonance Spectroscopy ; Muscle Hypotonia ; Myelin Sheath ; Nystagmus, Congenital ; Pregnancy

BACKGROUND AND OBJECTIVES: Congenital nystagmus (CN) is an ocular oscillation that usually manifests during early infancy. To report a novel mutation in FERM domain containing 7 (FRMD7) gene in a Korean family with CN. MATERIALS AND METHODS:Genomic DNA was prepared from peripheral blood leukocytes and direct sequencing of the entire coding and adjacent intronic regions was performed to detect sequence variation of FRMD7 gene, where mutations were found recently in patients with familial CN. The family showed an X-linked pattern of inheritance without father-to-son transmission. RESULTS: Three family members with CN exhibited two sequence variations which were a novel mutation (c. 875T>C; Leu292Pro) and a polymorphism (c. 1403G>A; Arg468His, dbSNP rs#6637934). The proband was hemizygous for both variations and his mother and maternal grandmother were heterozygous carriers. CONCLUSION: This study provides an additional evidence for mutations in FRMD7 as a common cause of X-linked CN and expands its mutation spectrum.
Clinical Coding ; DNA ; Humans ; Introns ; Leukocytes ; Mothers ; Nystagmus, Congenital* ; Wills

BACKGROUND AND PURPOSE: Congenital nystagmus (CN) is an ocular oscillation that usually manifests during early infancy. Typical features of CN include bilateral, conjugate, uniplanar, and usually horizontal eye movements, a null position, increased oscillation during fixation, and decreased amplitude during convergence. Our purposes were description and analysis of clinical and oculomotor findings of patients with X-linked familial CN. METHODS: We describe the clinical and oculographic features of five patients from three families with X-linked CN. Three-dimensional video-oculography disclosed various patterns of CN and variable degrees of gaze-holding deficits and visual impairments. RESULTS: The features of CN varied even in patients from the same family. Head tilt, strabismus, reversal of optokinetic nystagmus, and impairments of the vestibulo-ocular reflex, smooth pursuits, and saccades were frequent findings. CONCLUSIONS: The intra- and interfamilial diversities imply that heredity plays a secondary role in determining the clinical phenotypes and waveforms of CN.
Eye Movements ; Head ; Heredity ; Humans ; Nystagmus, Congenital* ; Nystagmus, Optokinetic ; Phenotype ; Pursuit, Smooth ; Reflex, Vestibulo-Ocular ; Saccades ; Strabismus ; Vision Disorders

BACKGROUND AND PURPOSE: Congenital nystagmus (CN) is an ocular oscillation that usually manifests during early infancy. Typical features of CN include bilateral, conjugate, uniplanar, and usually horizontal eye movements, a null position, increased oscillation during fixation, and decreased amplitude during convergence. Our purposes were description and analysis of clinical and oculomotor findings of patients with X-linked familial CN. METHODS: We describe the clinical and oculographic features of five patients from three families with X-linked CN. Three-dimensional video-oculography disclosed various patterns of CN and variable degrees of gaze-holding deficits and visual impairments. RESULTS: The features of CN varied even in patients from the same family. Head tilt, strabismus, reversal of optokinetic nystagmus, and impairments of the vestibulo-ocular reflex, smooth pursuits, and saccades were frequent findings. CONCLUSIONS: The intra- and interfamilial diversities imply that heredity plays a secondary role in determining the clinical phenotypes and waveforms of CN.
Eye Movements ; Head ; Heredity ; Humans ; Nystagmus, Congenital* ; Nystagmus, Optokinetic ; Phenotype ; Pursuit, Smooth ; Reflex, Vestibulo-Ocular ; Saccades ; Strabismus ; Vision Disorders

PURPOSE: Nystagmus is a rare involuntary eye movement which has no known, specific, underlying diseases. Schizencephaly is also a rare disease. A child with generalized developmental delay came to the pediatric clinic. He showed schizencephaly on MRI, and was referred to department of rehabilitation. During rehabilitative evaluation, the patient was referred to the department of ophthalmology due to esotropia. We found that the patient had little esotropia, but did have nystagmus. Therefore, we report a case of congenital nystagmus associated with schizencephaly. METHODS: A one-year-old boy showing schizencephaly on MRI and esotropia underwent examination. RESULTS: The patient did not have a remarkable past or familial history, and didn't show any other anomaly. There were no abnormal findings on slit lamp examination, and according to strabismus studies, he showed very little esotropia. He did show nystagmus. We couldn't find any significant refractive error or ocular dysfunction on cycloplegic refraction and fundus examination, respectively. Visual evoked potential showed normal findings. On MRI, ordered by the pediatrician, open-lip type schizencephaly on the right frontal lobe and absence of septum pellucidum were seen. There was no endocrinologic abnormality. CONCLUSIONS: We report the case of a child with congenital nystagmus accompanied by schizencephaly, and present a literature review.
Child* ; Esotropia ; Evoked Potentials, Visual ; Eye Movements ; Frontal Lobe ; Humans ; Magnetic Resonance Imaging ; Male ; Malformations of Cortical Development* ; Nystagmus, Congenital ; Ophthalmology ; Rare Diseases ; Refractive Errors ; Rehabilitation ; Septum Pellucidum ; Strabismus