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At least 127 records · Page 7Linked to original sources
PubMed2003

Bilateral Duane retraction syndrome associated with an extraordinary hand anomaly.

Duane retraction syndrome is an ocular motility disorder with which an increasing number of congenital abnormalities appear to be associated. In the present paper the authors report a case of bilateral Duane retraction syndrome with an extraordinary hand abnormality. Numerous theories concerning the etiology and pathogenesis of Duane retraction syndrome and its relationship to the associated findings have been proposed, but the exact mechanism is still under investigation. Further multi-centered studies and the classification of the associated clinical findings in an organized manner may help to explain this mechanism.

Child↗
PubMed2004

Are Duane syndrome and infantile esotropia allelic?

PURPOSE: To evaluate the clinical overlap of families with Duane syndrome and infantile esotropia to determine whether the identification of genes for Duane syndrome may explain some cases of infantile esotropia. METHODS: Three separate groups of patients were evaluated. 1) Families with features of infantile esotropia were identified through the Strabismus Inheritance Study Tasmania (SIST). Clinical details of participants and their families were reviewed for any cases of Duane syndrome. 2) Cases of Duane syndrome were identified through the clinical diagnostic database at the Royal Children's Hospital, Melbourne, and private ophthalmology clinics in Melbourne and Tasmania. Previous medical notes were reviewed and family history of strabismus noted. All affected individuals were invited for re-examination in cases where a positive family history of strabismus was reported; siblings, parents, and other family members, where appropriate, were invited to be examined for signs of Duane syndrome or infantile esotropia. 3) Cases of mosaic trisomy 8, which has been associated with Duane syndrome and infantile esotropia, were reviewed for signs of strabismus. RESULTS: A total of 133 families from the SIST were reviewed, but no 'pure' families of Duane syndrome were identified. Two families with infantile esotropia had several members affected with Duane syndrome. Of the 40 index cases with Duane syndrome whose families agreed to be involved in the study, 21 had a family history of ocular motility disorders, but only two of these families had multiple cases of Duane syndrome. From 24 cases with mosaic trisomy 8, one individual case had Duane syndrome and another had mild congenital cataracts and infantile esotropia. CONCLUSIONS: There is clinical overlap in families with Duane syndrome and infantile esotropia. We confirmed the previous association of mosaic trisomy 8 with both Duane syndrome and infantile esotropia. These data suggest that the two conditions may be allelic and may be due to a gene on chromosome 8.

Alleles↗
PubMed1998

Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13.

The extraocular fibrosis syndromes are congenital ocular-motility disorders that arise from dysfunction of the oculomotor, trochlear, and abducens nerves and/or the muscles that they innervate. Each is marked by a specific form of restrictive paralytic ophthalmoplegia with or without ptosis. Individuals with the classic form of congenital fibrosis of the extraocular muscles (CFEOM1) are born with bilateral ptosis and a restrictive infraductive external ophthalmoplegia. We previously demonstrated that CFEOM1 is caused by an autosomal dominant locus on chromosome 12 and results from a developmental absence of the superior division of the oculomotor nerve. We now have mapped a variant of CFEOM, exotropic strabismus fixus ("CFEOM2"). Affected individuals are born with bilateral ptosis and restrictive ophthalmoplegia with the globes "frozen" in extreme abduction. This autosomal recessive disorder is present in members of three consanguineous Saudi Arabian families. Genetic analysis of 70 individuals (20 affected individuals) reveals linkage to markers on chromosome 11q13, with a combined LOD score of 12.3 at the single nonrecombinant marker, D11S1314. The 2.5-cM CFEOM2 critical region is flanked by D11S4196/D11S4162 and D11S4184/1369. Two of the three families share a common disease-associated haplotype, suggesting a founder effect for CFEOM2. We hypothesize that CFEOM2 results from an analogous developmental defect to CFEOM1, one that affects both the superior and inferior divisions of the oculomotor nerve and their corresponding alpha motoneurons and extraocular muscles.

Blepharoptosis↗
PubMed1993

Benign paroxysmal tonic upgaze of childhood with ataxia. A neuro-ophthalmological syndrome of familial origin?

A new neuro-ophthalmological syndrome has been described recently, consisting of paroxysmal tonic upward deviation of the eyes with ataxia. Episodes occur daily and are always relieved by sleep. Onset is usually under one year of age and the symptoms gradually disappear during childhood. The authors describe three new patients in whom an autosomal dominant mode of inheritance was a constant finding, as well as clumsiness and delayed acquisition of independent gait. Treatment with levodopa was of clear benefit.

Age Factors↗
PubMed2005

Adding video recording increases the diagnostic yield of routine electroencephalograms in children with frequent paroxysmal events.

PURPOSE: To report on the usefulness of adding video recording to routine EEG studies of infants and children with frequent paroxysmal events. METHODS: We analyzed the efficacy of this diagnostic means during a 4-year period. The decision whether to add video recording was made by the pediatric EEG interpreter at the time of the study. Studies were planned to last between 20 and 30 min, and, if needed, were extended by the EEG interpreter. For most studies, video recording was added from the beginning of EEG recording. In a minority of cases, the addition of video was implemented during the first part of the EEG test, as clinical events became obvious. In these cases, a new study (file) was begun. The success rate was analyzed according to the indications for the EEG study: paroxysmal eye movements, tremor, suspected seizures, myoclonus, staring episodes, suspected stereotypias and tics, absence epilepsy follow-up, cyanotic episodes, and suspected psychogenic nonepileptic events. RESULTS: Video recording was added to 137 of 666 routine studies. Mean patient age was 4.8 years. The nature of the event was determined in 61 (45%) of the EEG studies. Twenty-eight percent were hospitalized patients. The average study duration was 26 min. This diagnostic means was particularly useful for paroxysmal eye movements, staring spells, myoclonic jerks, stereotypias, and psychogenic nonepileptic events. About 46% of 116 patients for whom cognitive data were available were mentally retarded. EEG with added video recording was successfully performed in all 116 cases and provided useful information in 29 (55%) of these 53 patients. CONCLUSIONS: Adding video recording to routine EEG was helpful in 45% of cases referred for frequent paroxysmal events. This technique proved useful for hospitalized children as well as for outpatients. Moreover, it was successfully applied in cognitively impaired patients. Infants and children with paroxysmal eye movements, staring spells, myoclonic jerks, stereotypias, and pseudoseizures especially benefited from this diagnostic means. Because of its low cost and the little discomfort imposed on the patient and his or her family, this technique should be considered as a first diagnostic step in children with frequent paroxysmal events.

Age Factors↗
PubMed1991

Ocular manifestations in fetal alcohol syndrome.

Eight children with the fetal alcohol syndrome are described with ocular anomalies. They all had a strong history of maternal alcohol abuse throughout pregnancy, especially in the first trimester. All the children had eye abnormalities. These included external eye lesions, Peters' anomaly, lens opacification, ocular motility disorders, and optic nerve hypoplasia.

Child↗
PubMed2005

Role of visual dysfunction in postural control in children with cerebral palsy.

INTRODUCTION: Deficient postural control is one of the key problems in cerebral palsy (CP). Little, however, is known about the specific nature of postural problems of children with CP, nor of the relation between abnormal posture and dysfunction of the visual system. AIM OF THE STUDY: To provide additional information on the association of abnormalities in postural control and visual dysfunction of the anterior or posterior part of the visual system. METHODS: Data resulting from ophthalmologic, orthoptic, neurological, neuro-radiological, and ethological investigations of more than 313 neurologically impaired children were retrospectively analyzed. RESULTS: Abnormal postural control related to ocular and ocular motor disorders consisted of anomalous head control and subsequent abnormal head posture and torticollis. The abnormal postural control related to retrochiasmatical damage of the visual system consisted of a torticollis combined with adjustment of the upper part of the body, as if at the same time adapting to a combination of defects and optimizing residual visual functions. CONCLUSION: Visual dysfunctions play a distinct role in the postural control of children with CP.

Adolescent↗
PubMedDate not supplied

Atypical presentation of restrictive orbital myositis.

The histories of two patients with restrictive ophthalmopathy are reported in whom the initial diagnosis was delayed primarily due to the relatively acute onset. This form of onset of dysthyroid orbital myositis is unique in our experience and demonstrates the importance of realizing that the restrictive ocular motility disorder of Graves' ophthalmopathy may occur abruptly. By such recognition, one may proceed with the appropriate laboratory investigation and spare the patient invasive procedures.

Aged↗
PubMedDate not supplied

A systematic review of the applicability and efficacy of eye exercises.

PURPOSE: To examine the current scientific evidence base regarding the efficacy of eye exercises as used in optometric vision therapy. METHODS: A search was performed of the following databases: Allied and Complementary Medicine Database, Cochrane Database of Systematic Reviews, Cochrane Register of Controlled Trials, EMBASE, and MEDLINE. Relevant articles were reviewed and analyzed for strengths and weaknesses. Pertinent sections of classic texts were studied to provide a historical basis and to serve as a source for additional early references. RESULTS: Forty-three refereed studies were obtained. Of these, 14 were clinical trials (10 controlled studies), 18 review articles, 2 historical articles, 1 case report, 6 editorials or letters, and 2 position statements from professional colleges. Many of the references listed by the larger reviews were unpublished or published in obscure or nonrefereed sources and therefore were not accessible. CONCLUSIONS: Eye exercises have been purported to improve a wide range of conditions including vergence problems, ocular motility disorders, accommodative dysfunction, amblyopia, learning disabilities, dyslexia, asthenopia, myopia, motion sickness, sports performance, stereopsis, visual field defects, visual acuity, and general well-being. Small controlled trials and a large number of cases support the treatment of convergence insufficiency. Less robust, but believable, evidence indicates visual training may be useful in developing fine stereoscopic skills and improving visual field remnants after brain damage. As yet there is no clear scientific evidence published in the mainstream literature supporting the use of eye exercises in the remainder of the areas reviewed, and their use therefore remains controversial.

Exercise Therapy↗
PubMed1999

Other intracranial mass lesions.

This article outlines the various signs and symptoms associated with intracranial gliomas, meningiomas, and hypertensive hemorrhages. It emphasizes the neurologic and neuro-ophthalmologic presentations of these intracranial mass lesions. Important pathways that subserve horizontal eye movements are examined and the ocular motility disorders associated with lesions of these fibers are outlined.

Brain Neoplasms↗
PubMed1999

Microstrabismus in monozygotic twins.

PURPOSE: To report microesotropia in twins as a unique example of the role of heredity in primary microstrabismus. METHODS: Clinical records of the examinations of monozygotic twins with primary microstrabismus were reviewed. RESULT: Microstrabismus with different clinical findings was present in monozygotic twins. The family history and personal history of the patients were not significant. CONCLUSION: Microstrabismus can be seen as primary ocular motility problem without previous infantile esotropia or anisometropia. Genetic factors as well as intrauterine environment and developmental factors may affect sensorimotor development of the infant and cause ocular motility problems. Both twins should be examined for ocular motility disorders even in the absence of complaints.

Child↗
PubMed2000

Ophthalmologic abnormalities in mentally retarded.

PURPOSE: To determine the prevalence and types of ophthalmologic abnormalities in mentally retarded subjects. METHODS: Seventy-three institutionalized mentally retarded subjects (41 boys and 32 girls) aged 5 to 19 years (mean: 11.5 years) were examined ophthalmologically during a three month period (from May to July 1999). The eye examination consisted of visual acuity testing (illiterate Snellen E-chart or acuity card procedures), pupillary reflex and motility evaluation, cover test for phoria and tropia, examination of adnexa and anterior segment (magnifying glass or slit-lamp biomicroscopy if indicated and possible), retinoscopy and direct ophthalmoscopy. All subjects were evaluated pediatrically, neurologically, psychologically and otorhinolaryngologically if indicated. RESULTS: Ophthalmologic abnormalities were found in 60.2% of the subjects. Eyelid abnormalities accounted for 21.7%, fundus abnormalities for 21.6%, refractive errors for 15% and ocular motility disorders for 13.6%. Taken separately, optic atrophy (16.4%) was the most frequent disorder, followed by refractive errors (15%), hypertelorism (12.3%), epicanthus (10.9%) and nystagmus (8.2%). Strabismus and mongoloid obliquity of lids were seen in 5.4% each other while ptosis was disclosed in 4.2% of cases. Visual acuity tested in 60 subjects revealed that 25 (41.6%) had visual impairment. Of all subjects 10.9% required corrective glasses while 9.6% needed corrective surgery for strabismus and ptosis. CONCLUSION: This study shows a high prevalence of ophthalmologic abnormalities in mentally retarded subjects. This is in agreement with the results of several other previous studies. It's therefore essential to screen mentally disabled subjects ophthalmologically.

Adolescent↗