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PubMedDate not supplied

[A case of flutter-like oscillation with anti-GD1a antibody after acute infection].

We report a 31-year-old woman presenting flutter-like oscillation after acute infection. Ten days after low fever and diarrhea, she presented transient, horizontal and pendular ocular oscillation. This abnormal eye movement was diagnosed as flutter-like oscillation (FLO). Other neurological findings were normal. Cerebrospinal fluid was normal. Brain MRI revealed no particular abnormalities. Serum titers for anti-GD1a antibody were elevated. After treatment with steroid (1,000 mg/day methylprednisolone DIV), the FLO disappeared.

Acute Disease↗
PubMed1998

B mode ultrasonography--spectrum of paediatric ocular disease.

BACKGROUND: Despite having appropriate sonographic equipment available many radiologists remain unfamiliar with B mode sonography of the eye. OBJECTIVE: This article reviews the advantages and disadvantages of B mode sonography of the paediatric eye. We illustrate the spectrum of eye abnormalities occurring in paediatric practice and the sonographic appearance of clinical entities for which sonography is appropriate. MATERIALS AND METHOD: We reviewed our experience of eye sonography within a paediatric radiology department over 8 years. A total of 212 sonographic examinations were performed on 206 eyes in 103 children, aged from 3 days to 16 years (mean 4.6 years). RESULTS: Sonography was well tolerated by the children, was a very useful imaging modality and was the only diagnostic imaging modality required in 94%. Supplementary computed tomography (CT) was performed in ten of 206 eyes (5%) and magnetic resonance imaging (MR) was performed in two of 206 eyes (1%). CONCLUSIONS: B mode sonography is a very useful imaging modality for suspected ocular or orbital pathology in children and is often the appropriate first line investigation following clinical evaluation. Radiologists familiar with sonography of the eye can provide valuable support to their ophthalmology colleagues.

Adolescent↗
PubMed2004

Screening for CDG type Ia in Joubert syndrome.

BACKGROUND: The features of Joubert syndrome include hypotonia, ataxia, characteristic neuro-imaging findings, episodic hypoventilation, psychomotor retardation, and abnormal eye movements. Common symptoms in congenital disorders of glycosylation (CDG) type Ia are muscle hypotonia, cerebellar hypoplasia, ataxia, mental retardation, ophthalmologic involvement, failure to thrive, abnormal fat distribution, and hepatopathy. It has been postulated that some Joubert syndrome patients might have an underlying disorder of protein glycosylation. MATERIAL/METHODS: Screening for disorders of glycosylation was performed in five children diagnosed with Joubert syndrome. Data were retrospectively collected from clinical charts, the patients were reexamined by clinical geneticists, and available neuro-imaging data were also reanalyzed. Diagnoses were established based on results of serum transferrin isoelectric focusing, phosphomannomutase enzyme activity measurements, and DNA mutation analysis. RESULTS: We confirmed the diagnoses of CDG type Ia in two of the five children originally diagnosed with Joubert syndrome. The symptoms of the two syndromes were clearly distinguishable. CONCLUSIONS: Syndromic patients with congenital vermis malformations should be screened for congenital disorders of glycosylation.

Abnormalities, Multiple↗
PubMed1983

Late hyphema after filtering surgery for glaucoma.

Four eyes of three patients developed spontaneous hyphemas eight months to three years after uncomplicated glaucoma filtering surgery. In two of the four eyes abnormal vessels could be seen at the internal margin of the trabeculectomy opening. Argon laser photocoagulation was successfully used to treat the bleeding, although one eye required multiple sessions.

Adult↗
PubMed2004

Functional properties of natural human PAX6 and PAX6(5a) mutants.

PURPOSE: Pax6 is essential for development of the eye, brain, and pancreas. Two major products of PAX6 are specific DNA-binding proteins, PAX6 and PAX6(5a). PAX6(5a) contains a short insertion influencing its DNA-binding activity. Heterozygous mutations in PAX6 result in abnormal eye development implicating haploinsufficiency. Deletions of one PAX6 allele result in aniridia characterized by severe ocular phenotypes. Approximately 10% of PAX6 mutations encode missense mutations. These mutations usually cause less severe abnormalities than does aniridia. The moderate phenotypes raise the possibility that different ocular tissues are differently sensitive to specific mutations. To test this hypothesis, we probed functional properties of individual mutated Pax6 proteins in a variety of conditions. METHODS: Mutations in PAX6 and PAX6(5a) were introduced by site-directed mutagenesis and tested by transfections in four cell lines using reporters containing three different Pax6 binding sites. Pax6 binding to DNA was studied by electrophoretic mobility shift assays. RESULTS: Functional studies of PAX6 and PAX6(5a) and their eight natural missense (G18W, R26G, A33P, S43P, G64V, I87R, V126D and R128C) and two nonsense (R317X and S353X) disease-causing mutants revealed unexpected pleiotropic effects in gene regulation, not predicted by the PAX6-DNA crystal structure. Transactivation by PAX6 and PAX6(5a) was dependent on the location of mutation, type of DNA-binding site, and cellular environment. CONCLUSIONS: This work provides evidence that activation by PAX6 and PAX6(5a) is modulated by specific cellular environments. It is likely that moderate phenotypes associated with PAX6 missense mutations originate from abnormal protein function in a restricted number of ocular cell types.

Animals↗
PubMed1984

Saccadic intrusions and oscillations.

There are a number of different types of involuntary saccadic eye movements which differ from normal saccades in that they take the fovea away from its target. This article presents a classification and description of these abnormal eye movements and indicates how they may be used to increase the precision of neurologic diagnosis.

Adult↗
PubMed1991

Macular colour contrast sensitivity in ocular hypertension and glaucoma: evidence for two types of defect.

Colour contrast sensitivity (CCS) of a large cohort of glaucomatous patients, ocular hypertensive patients (OH), and normal persons was measured at six-month intervals during a two-year period. The OHs were graded into high, medium, and low risk groups. 69% of glaucomatous patients and 32% of all OHs had CCS thresholds greater than the mean plus 2 SDs of the controls. Satisfactory specificity and sensitivity could not be obtained by adjusting the criterion of threshold. In abnormal eyes, progressive small increases of threshold occurred during the study, but glaucomatous eyes with normal thresholds on the first visit retained normal thresholds in the subsequent visits. Although our system is very sensitive and precise, the proportion of abnormalities detected is no greater than with other techniques. In some glaucomatous patients there is a true preservation of colour vision which does not merely reflect the limitations of the test employed.

Color Perception↗
PubMed2002

The role of RBF in developmentally regulated cell proliferation in the eye disc and in Cyclin D/Cdk4 induced cellular growth.

During Drosophila eye development, cell proliferation is coordinated with differentiation. Immediately posterior to the morphogenetic furrow, cells enter a synchronous round of S phase called second mitotic wave. We have examined the role of RBF, the Drosophila RB family homolog, in cell cycle progression in the second mitotic wave. RBF-280, a mutant form of RBF that has four putative cdk phosphorylation sites mutated, can no longer be regulated by Cyclin D or Cyclin E. Expression of RBF-280 in the developing eye revealed that RBF-280 does not inhibit G1/S transition in the second mitotic wave, rather it delays the completion of S phase and leads to abnormal eye development. These observations suggest that RB/E2F control the rate of S-phase progression instead of G1/S transition in the second mitotic wave. Characterization of the role of RBF in Cyclin D/Cdk4-mediated cellular growth showed that RBF-280 blocks Cyclin D/Cdk4 induced cellular growth in the proliferating wing disc cells but not in the non-dividing eye disc cells. By contrast, RBF-280 does not block activated Ras-induced cellular growth. These results suggest that the ability of Cyclin D/Cdk4 to drive growth in the proliferating wing cells is distinct from that in the none-dividing eye cells or the ability of activated Ras to induce growth, and that RBF may have a role in regulating growth in the proliferating wing discs.

Animals↗
PubMed1981

Bilateral optic nerve hypoplasia.

In the past 10 years, 15 children with bilateral optic nerve hypoplasia have been studied at the Royal Alexandra Hospital for Children. There were 5 boys and 10 girls. Nine were first-born and they presented at a mean age of 5 months (range: 4 days to 25 months). Five presented with suspected blindness and 7 with abnormal eye movements (nystagmus or less commonly squint). The other 3 presented because of fits or developmental delay. Eight showed evidence of neural damage--microcephaly, seizures and/or abnormalities of tone. Four appeared to be of normal or near normal intelligence, 6 were mildly retarded and 5 severely so. Two patients had already died, one suddenly. Six of the 7 cases investigated in detail had evidence of hypothalamic pituitary dysfunction. Another one had a minimal hypothalamic abnormality. Four were severely growth retarded and 2 were receiving growth hormone replacement. Two males had micropenis and a girl had precocious puberty with partial diabetes insipidus. Neuroradiological investigations showed an absent septum pellucidum in only 5 cases. Five patients had other major CNS malformations. Five patients had normal CT scans; 3 of these 5 appeared of normal intelligence and all 5 had normal neurological examinations. Bilateral optic nerve hypoplasia is frequently associated with serious brain and endocrine abnormalities.

Brain↗
PubMedDate not supplied

[Cystic eye and anophthalmos in a child with multiple congenital abnormalities].

Cystic eye is a rare congenital disease representing a persistent primary ocular cyst cavity. A patient aged 2 is described with anophthalmia and cystic eye looking as an orbital tumor 25 x 35 mm in size. The infant suffered from delayed psychomotor and speech development. Ambilyacousia, thymomegaly, multiple hemangiomas of the skin, syndactyly, cryptorchidism, inguino-scrotal hernias were diagnosed. The totality of developmental abnormalities was a contraindication against anesthesia, therefore the proposed cystic eye enucleation with prosthesis implantation was not carried out.

Abnormalities, Multiple↗
PubMed1994

Retrotransposon-induced ectopic expression of the Om(2D) gene causes the eye-specific Om(2D) phenotype in Drosophila ananassae.

Optic morphology (Om) mutations in Drosophila ananassae map to at least 22 loci, which are scattered throughout the genome. Om mutations are all semidominant, neomorphic, nonpleiotropic, and associated with the insertion of a retrotransposon, tom. We have found that the Om(2D) gene encodes a novel protein containing histidine/proline repeats, and is ubiquitously expressed during embryogenesis. The Om(2D) RNA is not detected in wild-type eye imaginal discs, but is abundantly found in the center of the eye discs of Om(2D) mutants, where excessive cell death occurs. D. melanogaster flies transformed with the Om(2D) cDNA under control of the hsp70 promoter display abnormal eye morphology when heat-shocked at the third larval instar stage. These results suggest that the Om(2D) gene is not normally expressed in the eye imaginal discs, but its ectopic expression, induced by the tom element, in the eye disc of third instar larvae results in defects in adult eye morphology.

Amino Acid Sequence↗
PubMed2006

Molecular analysis of a human PAX6 homeobox mutant.

Pax6 controls eye, pancreas and brain morphogenesis. In humans, heterozygous PAX6 mutations cause aniridia and various other congenital eye abnormalities. Most frequent PAX6 missense mutations are located in the paired domain (PD), while very few missense mutations have been identified in the homeodomain (HD). In the present report, we describe a molecular analysis of the human PAX6 R242T missense mutation, which is located in the second helix of the HD. It was identified in a male child with partial aniridia in the left eye, presenting as a pseudo-coloboma. Gel-retardation assays revealed that the mutant HD binds DNA as well as the wild-type HD. In addition, the mutation does not modify the DNA-binding properties of the PD. Cell transfection assays indicated that the steady-state levels of the full length mutant protein are higher than those of the wild-type one. In cotransfection assays a PAX6 responsive promoter is activated to a higher extent by the mutant protein than by the wild-type protein. In vitro limited proteolysis assays indicated that the presence of the mutation reduces the sensitivity to trypsin digestion. Thus, we suggest that the R242T human phenotype could be due to abnormal increase of PAX6 protein, in keeping with the reported sensitivity of the eye phenotype to increased PAX6 dosage.

Animals↗
PubMed2005

Eye findings in patients with juvenile dermatomyositis.

OBJECTIVE: Reports of eye involvement in juvenile dermatomyositis (JDM), including significant retinopathy with visual loss, have led some to recommend routine formal ophthalmologic assessments for all patients with JDM at diagnosis. Our objective was to document the frequency and spectrum of eye involvement in patients followed in a single clinic caring for children with JDM. METHODS: A chart review was conducted of formal ophthalmologic consultation notes for patients with JDM followed at the Hospital for Sick Children between 1981 and 2002. RESULTS: Ophthalmologic assessments were found for 82 of 108 patients with JDM. The mean age at diagnosis of JDM was 7.0 years and 68.3% were female. Forty-five patients (55.6%) had abnormal eye examinations. Lid manifestations, found in 37 patients (45.7%), were the most common abnormality. Fourteen patients (17.1%) had corticosteroid-induced cataracts. Two patients had retinal abnormalities; one had a small retinal hemorrhage, the other an incidental chorioretinal scar. Neither had impairment of vision. No patient had uveitis. CONCLUSION: Eyelid and lens abnormalities are common in patients with JDM, while retinopathy is rare. As lid lesions and cataracts are easily detected by non-ophthalmologists, and retinal lesions are rare, we feel that JDM patients without visual symptoms do not require routine formal ophthalmologic assessment for disease manifestations.

Adolescent↗
PubMedDate not supplied

Bilateral loss of vestibular function: clinical findings in 53 patients.

The clinical presentations and aetiologies of a series of 53 cases of bilateral vestibular failure (BVF) seen by the authors over a decade were evaluated by retrospective review of the medical records. Thirty-nine per cent of patients had associated neurological disease; 13% had a progressive cerebellar syndrome with disabling gait ataxia, abnormal eye movements and cerebellar atrophy on neuro-imaging. BVF was usually unsuspected. Nine per cent had cranial or peripheral neuropathies and in this group there was no abnormality of brain stem/cerebellar oculomotor function, but hearing loss was common. Eleven per cent revealed BVF and hearing loss secondary to meningitis, and 6% had other neurological disorders. Idiopathic BVF was found in 21% of cases, characterised by paroxysmal vertigo and/or oscillopsia, but no abnormal clinical signs. Gentamicin ototoxicity accounted for a further 17%, while autoimmune disease was present in 9% of patients. Otological or neoplastic disease was diagnosed in the remaining 13% of patients. It was concluded that neurological, audiological and ocular motor assessments allow the probable cause of BVF to be defined in approximately 80% of cases. A group of BVF related to autoimmune pathologies is reported for the first time, indicating the need for immunological screening. Idiopathic BVF may present with only minor visual or vestibular symptoms, while in patients with cerebellar degeneration, BVF may be unsuspected and, thus, underdiagnosed.

Adult↗
PubMed1985

Studies on equine recurrent uveitis. I: Levels of immunoglobulin and albumin in the aqueous humor of horses with and without intraocular disease.

A radioimmunoassay was developed for detection of immunoglobulin in the aqueous of normal horses and horses with intraocular diseases. Levels of albumin were detected by radial immunodiffusion. Results of assays on samples from normal eyes from which aqueous was obtained by paracentesis under anesthesia were 32.10 +/- 21.50 microgram/ml for IgG, 0.05 +/- 0.01 microgram/ml for IgM, 0.04 +/- 0.02 microgram/ml for IgA and 34.0 +/- 38.0 microgram/ml for albumin. Results in 138 normal eyes sampled post mortem were 41.56 +/- 38.65 microgram/ml for IgG, 0.18 +/- 0.43 microgram/ml for IgM, 0.46 +/- 1.45 microgram/ml for IgE and 184 +/- 240 microgram/ml for albumin. Levels in abnormal eyes were some 50-120% greater, and very high levels were noted in cases of clinically documented uveitis. The aqueous to serum ratio of the proteins measured generally varied in relation to the molecular weights and was increased in diseased eyes. The ratio of IgG/albumin in the diseased eyes was less which suggested leakage of protein from an impaired blood/aqueous barrier rather than intraocular antibody synthesis.

Albumins↗
PubMed1991

Delayed oculogyric crises associated with striatocapsular infarction.

Oculogyric crises are dystonic, usually upward, conjugate eye deviations. We describe an 11-year-old girl who developed oculogyric crises 3 1/2 years after infarction of the right caudate, putamen, and internal capsule. Her abnormal eye movements responded to anticholinergic agents. This is the first reported association between oculogyric crises and striatocapsular infarction.

Benztropine↗
PubMed1989

[Selective impairment of downward gaze; report of two cases of midbrain and bilateral paramedian thalamic infarction].

Selective paralysis of downward gaze, first described by André-Thomas et al. in 1933, is rare to be observed and not many cases have been so far reported in the literature. Two additional cases of selective impairment of downward gaze have been reported. X-ray CT scan revealed the infarcted areas in the midbrain tegmentum and bilateral paramedian thalami in both cases. Angiographic studies have revealed that the arteries occluded might be the paramedian thalamic arteries and their mesencephalic branches. According to the reported clinico-pathological studies and, in addition, to the results of the physiological studies in animal models, the responsible site of lesion for downward gaze failure is thought to be the rostral interstitial nucleus of MLF (riMLF). In one of the cases (28 year-old female, case 1), while vertical slow pursuit eye movements and upward saccade were normal in speed and range, maximum speed of eyes in voluntary downward saccade was markedly reduced and the eyes moved down slowly as if moving in oil (slow eye movement, viscosité). Passively extending the patient's head while she tried to fix her eyes on an unmoving object (doll's eye phenomenon), the speed of her eyes in downward saccade did not increase. In the other case (45 year-old male, case 2), the patient's voluntary and reflex downward eye movements were completely impaired and he could not look down nor follow the object below extending the horizontal meridian level. With regard to the unique features of abnormal eye movements observed in our cases, the possibility of coexistence of saccadic and slow pursuit eye movement systems in the vertical plane was discussed.

Adult↗