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PubMed1998

Function and dysfunction of supranuclear and internuclear eye movement pathways.

Recent investigations in ocular motility have shed light on the anatomical and physiological mechanisms that govern smooth pursuit, saccades, and the vestibulo-ocular reflex in normal humans and patients with neurological disorders. Functional neuroimaging and transcranial magnetic stimulation have been used in normal human subjects to draw parallels with basic investigations in animals. Quantitative studies of eye movement disorders in patients with focal brain dysfunction have added to our understanding of human pathophysiology. Finally, some of the most practical of recent work has been aimed at developing therapies to alleviate the functional limitations caused by abnormal eye movements.

Animals↗
PubMedDate not supplied

[Implantation in severe myopia cataract].

Based upon biometric and statistical analysis of 163 eyes (26 mm or longer), it appears that high myopia cataract occur all the earlier as the eye is long; on average, these were operated on ten years earlier than cataracts in the general population. Extra-capsular extraction and intercapsular implantation were generally used. Pre and post-operative complications are remarkably rare for such abnormal eyes. After a mean period of 22 months, detachment of the retina was observed in 1.84% of patients and secondary capsulotomy performed in 8%. Because they prevent secondary capsular opacification and anterior vitreous propagation, it appears that such barrier-type implants should be systematically placed. Current large-diameter implants allow for vitreoretinal observation. Based upon this patient population, a formula for implant power calculation specific to high myopia has been elaborated. The desired degree of refraction varies with age and patient activity.

Aged↗
PubMed2003

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.

The congenital muscular dystrophies (CMD) are a heterogeneous group of autosomal recessive disorders. A new pathomechanism has recently been identified in a group of these disorders in which known or putative glycosyltransferases are defective. Common to all these conditions is the hypoglycosylation of alpha-dystroglycan. Fukuyama CMD, muscle-eye-brain disease and Walker-Warburg syndrome, each associated with eye abnormalities and neuronal migration defects, result from mutations in fukutin, POMGnT1 and POMT1, respectively, while mutations in the fukutin-related protein (FKRP) gene cause congenital muscular dystrophy 1C, typically lacking brain involvement. Another putative glycosyltransferase, Large, is mutated in the myodystrophy mouse. The human homologue of this gene is therefore a strong candidate for involvement in novel forms of muscular dystrophy. We studied 36 patients with muscular dystrophy and either mental retardation, structural brain changes or abnormal alpha-dystroglycan immunolabelling, unlinked to any reported CMD loci. Linkage analysis in seven informative families excluded involvement of LARGE but sequencing of this gene in the remaining 29 families identified one patient with a G1525A (Glu509Lys) missense mutation and a 1 bp insertion, 1999insT. This 17-year-old girl presented with congenital muscular dystrophy, profound mental retardation, white matter changes and subtle structural abnormalities on brain MRI. Her skeletal muscle biopsy showed reduced immunolabelling of alpha-dystroglycan. Immunoblotting with an antibody to a glycosylated epitope demonstrated a reduced molecular weight form of alpha-dystroglycan that retained some laminin binding activity. This is the first description of mutations in the human LARGE gene and we propose to name this new disorder MDC1D.

Adolescent↗
PubMed2000

Alternating hemiplegia of childhood: clinical manifestations and long-term outcome.

We present our analysis of 44 patients with alternating hemiplegia of childhood. The clinical course usually consisted of three phases. The first was dominated by abnormal eye movements and dystonic episodes, the second by hemiplegic spells and psychomotor regression, and the third by persistent developmental delay and fixed neurologic deficits. The age of onset was 0-54 months (mean = 7.9 +/- 13 months). The presenting signs included abnormal ocular movements in 65%, dystonia in 60%, and hemiplegia in 32%. Patients with an early onset of the disorder and an early appearance of hemiplegic spells faired the poorest developmentally. Developmental delay was present in 91%, ataxia in 68%, choreoathetosis in 50%, and seizures in 18%. Laboratory investigations suggested mitochondrial abnormalities and cerebrovascular dysfunction in several patients. Numerous therapies were largely ineffective. Flunarizine reduced the duration, severity, and frequency of the hemiplegic attacks in 78%. Patients who received flunarizine did not differ developmentally from those who did not. Our data suggest that flunarizine does not adversely affect and may favorably influence the outcome in patients with alternating hemiplegia of childhood. Additionally, the occurrence of autosomal-dominant cases of the syndrome, although rare, suggests that, in addition to mitochondrial dysfunction, genetic factors may be important.

Adolescent↗
PubMed2002

Characteristics of epilepsy in focal cortical dysplasia in infancy.

To describe the poorly known characteristics of epilepsy during infancy in focal cortical dysplasia (FCD), one of the most frequent cause of infantile epilepsy. All 28 patients with FCD referred to two specialized centres were retrospectively studied regarding seizure characteristics, psychomotor evaluation, and response to medical and surgical treatment. All patients presented with early partial seizures. Semiology, but not the age of onset, depended on the topography of the dysplasia, with abnormal eye movements in all cases of posterior FCD. Eleven patients also developed infantile spasms (IS), mainly asymmetrical. IS were easily controlled with Vigabatrin or ACTH, but no partial seizures could be medically controlled except in one patient. All patients except one had abnormal neuropsychological findings. Fifteen patients had surgery, eight became seizure free, and seven were significantly improved regarding psychomotor development. Very early and refractory partial seizures, but easily controlled IS are the main characteristics of FCD in infancy. Only the focal ictal semiology may help differentiate the localization of FCD. Its intrinsic epileptogenicity could sustain this clinical pattern. Since the chances for medical control and normal neurodevelopment are poor, surgical treatment should be considered early in infants with FCD.

Age Factors↗
PubMed1991

Clinical, neuropsychological, and brain structural correlates of smooth-pursuit eye tracking performance in chronic schizophrenia.

The relation of smooth-pursuit eye tracking dysfunction to neuropsychological performance, brain structural anomalies, and clinical state was examined in a sample of 61 patients with chronic schizophrenia. No association was found between impaired pursuit oculomotion and measures of chronicity or clinical state. Likewise, no association emerged between eye-tracking integrity and brain structural anomalies. Patients with dysfunctional eye tracking were more likely to have impaired performance on tests that assess frontal lobe functioning. In addition, negative symptoms and a relative absence of positive symptoms. Because negative symptoms are often found among patients with frontal lobe impairment, their association with abnormal eye tracking provides converging support for the hypothesis that the cortical locus of deviant smooth-pursuit eye tracking is in the frontal lobes.

Adolescent↗
PubMed1989

[A case of spinocerebellar degeneration with bilateral MLF syndrome and dystonia].

The patient, a 31-year-old married woman, noticed spasticity on walking at the age of 19 accompanied by ataxia, dysarthria and dysphagia. Facial twitching and dystonic movement of extremities have been observed since age 27. A sister of her father showed the similar ataxia and dysarthria, and expired of pneumonia at the age of 45. On admission at the age of 29, neurological examinations revealed nystagmus, marked spasticity with pathological reflexes and clonus, cerebellar ataxia, dysarthria and dysphagia, diffuse muscle wasting, fasciculation in facial musculature, and generalized slow dystonic movement. By neuro-otological studies bilateral MLF syndrome with upward gaze limitation and decreased velocity of saccadic eye movement were detected. Surface EMG at rest showed a dystonic discharges on the extremities. Needle EMG disclosed a systemic neurogenic change with reduced interference and high amplitude potentials. Atrophy of the brainstem was remarkable on the cranial CT and MRI. These abnormal eye movements, especially bilateral MLF syndrome and generalized dystonia seem to be quite unusual in the variety of spinocerebellar degenerations. On reviewing detected clinical descriptions on Joseph disease this case can be probably included.

Adult↗
PubMed2000

Anterior uveitis in murine relapsing experimental autoimmune encephalomyelitis (EAE), a mouse model of multiple sclerosis (MS).

PURPOSE: To investigate whether anterior uveitis (AU), which often accompanies central nervous system (CNS) and systemic inflammatory diseases including multiple sclerosis (MS), also develops in a murine relapsing model of MS, experimental autoimmune encephalomyelitis (EAE) closely resembling relapsing-remitting MS, induced by immunization with myelin basic protein (MBP) in mice. METHODS: (PL/J x SJL) F1 female mice were immunized with MBP in complete Freund's adjuvant (CFA) using Pertussis toxin as co-adjuvant. EAE was scored clinically on a scale of 0-5 based on the degree of paralysis. Uveitis was assessed by slit-lamp biomicroscopy. Histolological analysis of the CNS and eye were performed. RESULTS: All immunized mice developed a characteristic relapsing paralysis. Evidence of AU was present late in the course of EAE, only after the resolution of the first clinical relapse, in 4 of 5 mice (80%) (clinical evidence) and 5 of 5 (100%) (histological evidence). AU was mild to moderate with the exception of one animal, in which it was severe. Involvement was invariably bilateral. Histology showed mononuclear infiltrates in the iris and ciliary body. Bilateral secondary cataracts were observed in the animal with severe inflammation. Paralytic episodes and the AU did not coincide. There were no clinical or histological eye abnormalities in control mice, either non-immunized or immunized with CFA and Pertussis toxin only. CONCLUSION: We report AU in a mouse model of EAE which strongly resembles relapsing MS. These results further suggest shared antigenic determinants between the CNS and the eye, which likely become exposed to the immune system late in the course of CNS inflammation.

Animals↗
PubMed2005

Comparison of monocular autorefraction to comprehensive eye examinations in preschool-aged and younger children.

BACKGROUND: Monocular autorefraction is a newly available technology for vision screening that has been advocated to test young children. Such devices automatically determine the refractive state of each eye, but cannot directly detect amblyopia or strabismus. OBJECTIVE: To compare the results of a commercially available monocular autorefractor (SureSight; Welch Allyn Medical Products, Skaneateles Falls, NY) with findings from a comprehensive eye examination for significant refractive error, strabismus, and amblyopia. METHODS: Children 5 years and younger who were new patients attending a pediatric ophthalmology clinic were tested with the monocular autorefractor without dilation and underwent a comprehensive eye examination that included dilation. MAIN OUTCOME MEASURES: The proportion of children who could be tested and the sensitivity and specificity of the screening. RESULTS: Of the 170 children enrolled (age, <3 years, n = 80; age range, 3-5 years, n = 90), 36% had abnormal eye examination findings. Most (84%) children 3 years or older could be tested compared with 49% of the children younger than 3 years (P<.001). Among those who were testable, for children younger than 3 years the sensitivity was 80% (95% confidence interval [CI], 44%-97%) and the specificity was 41% (95% CI, 24%-61%). For children aged 3 to 5 years, the sensitivity was 88% (95% CI, 68%-97%) and the specificity was 58% (95% CI, 43%-71%). CONCLUSIONS: Our findings suggest that screening children aged 3 to 5 years with monocular autorefraction would identify most cases of visual impairment but would be associated with many false-positive results. For children younger than 3 years, testability was low and results were nonspecific.

Age Factors↗
PubMed2006

FEM simulation of the eye structure with bio-heat analysis.

Computer simulation on medical sciences has gain increasing popularity as computational technology advances. Successful thermal modeling of the human eye will assist in enabling early detections of eye abnormalities such as inflammatory. However, validity of every computer simulated results must be benchmarked with experimental measurement and this can be a daunting task especially in biomedical fields where experimental data is not in abundance. This paper presents a 2D finite element (FE) human eye model developed to simulate its thermal steady state conditions based on the properties and parameters reported in the open literatures. The results are verified with experimental and computational results obtained by previous studies on human as well as animal eyes. Results show discrepancy of only 0.33% when compared to images from infrared (IR) screening and a difference of only 0.127% compared to another finite element model. The sensitivity analysis also provides good agreement with results by previous studies. This promising simulation allows new possibility in computational methods for eye health care.

Artificial Intelligence↗
PubMed2003

The pineapple eye gene is required for survival of Drosophila imaginal disc cells.

Each ommatidium of the Drosophila eye is constructed by precisely 19 specified precursor cells, generated in part during a second mitotic wave of cell divisions that overlaps early stages of ommatidial cell specification. Homozygotes for the pineapple eye mutation lack sufficient precursor cells due to apoptosis during the period of fate specification. In addition development is delayed by apoptosis during earlier imaginal disc growth. Null alleles are recessive lethal and allelic to l(2)31Ek; heteroallelic combinations can show developmental delay, abnormal eye development, and reduced fertility. Mosaic clones autonomously show extensive cell death. The pineapple eye gene was identified and predicted to encode a novel 582-amino-acid protein. The protein contains a novel, cysteine-rich domain of 270 amino acids also found in predicted proteins of unknown function from other animals.

Amino Acid Sequence↗
PubMed2006

The contribution of associated congenital anomalies in understanding Hirschsprung's disease.

Hirschsprung's disease (HSCR) is a complex congenital disorder which, from a molecular perspective, appears to result due to disruption of normal signalling during development of enteric nerve cells, resulting in aganglionosis of the distal bowel. Associated congenital anomalies occur in at least 5-32% (mean 21%) of patients and certain syndromic phenotypes have been linked to distinct genetic sites, indicating underlying genetic associations of the disease and probable gene-gene interaction in its pathogenesis. Clear-cut associations with HSCR include Down's syndrome, dominant sensorineural deafness, Waardenburg syndrome, neurofibromatosis, neuroblastoma, phaeochromocytoma, the MEN type IIB syndrome and other abnormalities. Individual anomalies vary from 2.97% to 8%, the most frequent being the gastrointestinal tract (GIT) (8.05%), the central nervous system (CNS) and sensorineural anomalies (6.79%) and the genito-urinary tract (6.05%). Other associated systems include the musculoskeletal (5.12%), cardiovascular systems (4.99%), craniofacial and eye abnormalities (3%) and less frequently the skin and integumentary system (ectodermal dysplasia) and syndromes related to cholesterol and fat metabolism. In addition to associations with neuroblastoma and tumours related to MEN2B, HSCR may also be associated with tumours of neural origin such as ganglioneuroma, ganglioneuroblastoma, retinoblastoma and tumours associated with neurofibromatosis and other autonomic nervous system disturbances. The contribution of the major susceptibility genes on chromosome 10 (RET) and chromosome 13 (EDNRB) is well established in the phenotypic expression of HSCR. Whereas major RET mutations may result in HSCR by haploinsufficiency in 20-25% of cases, the etiology of the majority of sporadic HSCR is not as clear, appearing to arise from the combined cumulative effects of susceptibility loci at critical genes controlling the mechanisms of cell proliferation, differentiation and maturation. In addition, potential "modifying" associations exist with chromosome 2, 9, 20, 21 and 22, and we explore the importance of certain flanking genes of critical areas in the final phenotypic expression of HSCR.

Animals↗
PubMed1982

Electro-oculographic findings in Machado-Joseph disease.

Electro-oculographic recordings (EOG) were made on 26 patients with Machado-Joseph disease or at genetic risk for that disease. All patients with clinically apparent disease (ataxia, dysarthria, spasticity, or ophthalmoparesis) had abnormal eye movements. Defects in caloric response, sinusoidal tracking, opticokinetic nystagmus (OKN), refixation saccades, and presence of gaze paretic nystagmus were detected in that order of frequency. Fourteen subjects were clinically at risk but had normal neurologic examinations or minor equivocal signs. Nine of the fourteen had abnormal EOG, with sinusoidal tracking, calories, refixation saccades, OKN, and gaze paretic nystagmus being abnormal in that order. EOG may be useful in early case detection and may contribute to genetic counseling.

Adolescent↗
PubMed2002

Unusual eye movements in a patient with complex partial seizure disorder.

BACKGROUND: A complex partial seizure can cause a variety of visual system signs and symptoms, including visual hallucinations, dilated pupils, and changes in vision. Little information is known about the influence of this disorder on the visual system during nonseizure moments. This case report examines the unusual eye movements-during these nonseizure times-of a patient diagnosed with complex partial seizure disorder. CASE REPORT: An 8-year-old boy was referred to the clinic by his pediatric neurologist for a comprehensive examination to rule out a visual cause for the abnormal eye movements observed by the patient's mother. Ocular examination revealed periodic, spontaneous, versional eye movements to the left and right, accompanied by a small widening of the fissures and turning of the head. No vergence or accommodative problems were detected, but Developmental Eye Movement (DEM) and Visagraph testing showed mild dysfunction. Ocular health was unremarkable, while radiology studies and neurological evaluation yielded no observable pathology. CONCLUSION: Complex partial seizure disorder can affect the visual system in a wide variety of ways. The precise role, if any, that complex partial seizure disorder plays in ocular motility control during nonseizure moments is unknown. The most-plausible etiology of the observed ocular movements in this patient is the presence of a tic disorder. Patients with unknown eye movement disorders deserve a thorough evaluation, including a search for systemic causes.

Child↗
PubMed1992

A unique mutation in the Enhancer of split gene complex affects the fates of the mystery cells in the developing Drosophila eye.

An unusual recessive allele of the Drosophila groucho gene, which encodes a transducin-like protein, affects the fates of specific cells in the eye disc. groucho is one of several transcription units in the Enhancer of split complex. Most groucho mutations are zygotic lethal due to the proliferation of embryonic neural cells at the expense of epidermal cells. In contrast, flies homozygous for the mutant allele described here, groBFP2, are viable but have abnormal eyes. The Drosophila compound eye is composed of several hundred identical facets, or ommatidia, each of which contains eight photoreceptor cells, R1-R8. In groBFP2 mutant retinas, most of the facets contain eight normally determined photoreceptor cells and one or two additional R-cells of the R3/4 subtype. The extra photoreceptors appear to arise from the mystery cells, which are part of the precluster that initiates the ommatidium, but do not normally become neurons. groBFP2 behaves as a partial loss-of-function mutant. Analysis of ommatidia mosaic for wild-type and groBFP2 mutant cells suggests that the focus of action of the groBFP2 mutation is outside of the photoreceptor cells. These results imply that one function of groucho is in a pathway whereby neuralization of the mystery cells is inhibited by other non-neural cells in the eye disc. In addition, determination of R3/4 photoreceptors usually requires contact with R2 and R5. Specification of the mystery cells as ectopic R3/4 subtype photoreceptors in groBFP2 mutant eye discs implies that induction by R2 or R5 is not absolutely necessary for R3/4 cell determination.

Animals↗
PubMed2002

Report of a child with aortic aneurysm, orofacial clefting, hemangioma, upper sternal defect, and marfanoid features: possible PHACE syndrome.

We report a female patient who had a scalp hemangioma, a cleft uvula, an upper sternal defect, pectus excavatum, arachnodactyly, pes planus, and joint hypermobility. She had rupture of an aortic aneurysm after minor trauma at 11 years of age. At 17 years of age, elective repair of a dilated, ectatic aorta was complicated by cerebral ischemia. Other vascular abnormalities in the proband included an aneurysm of the left subclavian artery, atresia of the right carotid artery, and calcified cerebral aneurysms. We believe that the proband's physical anomalies are best described by the PHACE (posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities) phenotypic spectrum. This spectrum of physical anomalies also includes sternal clefting and hemagiomas as part of the sternal malformation/vascular dysplasia (SM/VD) association, as found in our patient, and the acronym PHACES has also been used. We consider that the PHACE phenotypic spectrum is likely to be broader than previously recognized and includes orofacial clefting and aortic dilatation and rupture. Our patient also had skeletal anomalies that lead to consideration of Marfan syndrome as a diagnosis. It should be recognized that there is clinical overlap between PHACE syndrome and Marfan syndrome when aortic dilatation is present. We would also like to emphasize the minor nature of the cutaneous findings in our patient despite her severe vascular complications. This is in contrast to previous reports of large or multiple hemangiomas in PHACE syndrome.

Abnormalities, Multiple↗
PubMedDate not supplied

Eruptive vellus hair cysts in a patient with Lowe syndrome.

We present a 20-year-old patient with Lowe syndrome and eruptive vellus hair cysts. Also known as oculocerebrorenal syndrome, it is an X-linked recessive disorder localized to Xq24-26.1. The phenotypic features of this disorder are Fanconi-type renal failure, mental retardation, and various eye abnormalities. The causative gene, oculocerebrorenal-Lowe 1 (OCRL1), encodes a phosphatase whose function is to regulate the phosphatidylinositol pool of intracellular signaling molecules that regulate the release of lysosomal enzymes in tissues. Low levels of this phosphatase lead to the extracellular release of lysosomal enzymes in organs such as the eye, brain, and kidney, with the resulting tissue damage most likely accounting for the characteristic phenotype. Our patient with Lowe syndrome had several discrete, dome-shaped papules on his midchest. They clinically resembled either eruptive vellus hair cysts or steatocystoma multiplex. Histologically they were most diagnostic of eruptive vellus hair cysts, which are not a known feature of Lowe syndrome. We present a hypothesis based on the known biochemical deficiencies resulting from the mutations in the OCRL1 gene, which may account for the cyst formation. To our knowledge, this is the first reported case of skin findings associated with this disorder.

Adult↗