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PubMed2005

The surgical outcome of strabismus in patients with general fibrosis syndrome.

BACKGROUND: This study investigates the clinical features of strabismus in patients with general fibrosis syndrome (GFS) and the results of surgery performed on such patients. METHODS: We conducted a retrospective review of patients with GFS who visited our clinic at Chang Gung Memorial Hospital between 1 August 1992 and 31 January 2002. After evaluating the family histories of 9 patients with GFS, patients were given a complete ophthalmic evaluation. Myectomies of the inferior rectus muscle were performed to correct hypotropia and recessions and/or resections of medial rectus and/or lateral rectus were performed to correct esotropia or exotropia, respectively. The post-operative conditions of the survey patients were reviewed for at least 6 months after the completion of the procedures. RESULTS: Six patients (67%) were identified with inherited autosomal dominance. All patients displayed the characteristic 'chin-up' position, limited extraocular muscle movement and eye abnormalities. High astigmatism (>=-2.0 diopter) was noted in 9 eyes (50%) and amblyopia was noted in all cases. With regard to vertical eye deviation, 11 eyes (61%) were corrected through myectomy of the inferior rectus muscle to within 5 degrees as measured using a Hirschberg test. Furthermore, three cases (33%) were complicated by lower scleral show. CONCLUSION: The presence of GFS complicates the surgical correction of strabismus making procedure results more difficult to predict. Strabismus surgery has been demonstrated to reduce eye deviation in the primary position, thus improving patients' head posture. The resulting improvements to cosmetic appearance and functionality lead us to recommend that strabismus surgery be performed in conjunction with ptosis surgery for GFS patients.

Female↗
PubMed1993

Saccadic underaction in concomitant strabismus and Hering's law: a new neurophysiologic model for binocular motor correspondence.

Hering's law of equal innervation has remained so far as an universal truth with no scientific basis. However, recent reports of Saccadic underactions in concomitant strabismus indicating asymmetric ocular motor innervation is in contradiction to the law. In an effort to understand the inequalities of binocular movements, we propose a neurophysiologic model for both normal and abnormal eye movements. The model hypothesizes that any binocular movement results from the yoking of two monocular reflex loops corresponding to the two eyes, during the plastic stage of development of ocular motor reflexes. The retinal target discrepancy triggers the reflex loop resulting in a monocular corrective movement. As there is a common binocular field, the stimuli to the two eyes are similar causing a similar binocular corrective movement. In abnormal cases coupling of asymmetric motor loops may occur resulting in alternate or unilateral saccadic underactions.

Electrooculography↗
PubMed1981

The eye movements of the dark-reared cat.

Cats reared in total darkness to adulthood have abnormal eye movements. A spontaneous nystagmus is found in the dark before any visual experience. The eye movements evoked by vestibular or optokinetic stimulation are less effective at compensation than for a normal cat. The vestibulo-ocular reflex (VOR) has a low gain (around 0.3) and a frequency dependent phase relation. The efficiency of optokinetic nystagmus (OKN) is poorer than for a normal cat, except for downwards stimulus movement which is followed better than normal. OKN is poorest in response to a stimulus viewed monocularly moving in the nasal to temporal direction. Neither VOR nor OKN of a dark-reared cat recover in efficiency within 5 months of the animal being brought into the light. A normal cat put into the dark for 135 days shows none of these abnormalities except an occasional spontaneous nystagmus.

Acclimatization↗
PubMed1983

Botulin ophthalmoplegia. Clinical and oculographic observations.

Two patients with botulin ophthalmoplegia had rapid quivering eye motions during attempts to refixate laterally placed objects; these abnormal eye movements occurred in conjunction with a disjunctive limitation of range of eye movements. Oculographic examination showed that the quivering motions were composed of multiple hypometric saccades, many of which had subnormal and stuttering velocities. By blocking acetylcholine release into myoneural junctions, botulin toxin seems to limit the duration of saccadic burst innervation reaching ocular muscle.

Botulism↗
PubMed1984

Trigonocephaly: a new familial syndrome.

Trigonocephaly was found in six relatives through three generations of one family. The propositus was ascertained at birth because of omphalocele. In addition to trigonocephaly, he had minor ear, vertebral, and genital abnormalities. His father had mild microcephaly, and both had minor eye abnormalities. None of the other four affected individuals had any other malformations. In this family, trigonocephaly is an autosomal dominant trait. The ratio of affected males to affected females was 5 to 1, and although the paucity of affected females is not statistically significant, we speculate that it may reflect variable expressivity or sex limitation of the trait. We conclude that the condition in this family represents a unique syndrome in which trigonocephaly is not associated with functional brain abnormalities and where craniosynostosis is limited to the metopic region.

Adult↗
PubMed2005

Paroxysmal tonic upgaze of childhood--a review.

Ouvrier and Billson (1988) were apparently the first to describe this entity. In the four original cases, the clinical features were as follows: (1) onset usually under 1 year of age, (2) episodes of variably sustained conjugate upward deviation of the eyes, with neck flexion (chin down) apparently compensating for the abnormal eye position, (3) downbeating saccades in attempted downgaze, (4) normal horizontal eye movements, (5) diurnal fluctuation of symptoms, (6) frequent relief by sleep, (7) exacerbation with febrile illnesses, (8) varying degrees of ataxia, (9) neurological examination usually otherwise normal, (10) absence of deterioration during long-term follow-up, (11) eventual improvement, (12) usually negative investigations, including imaging, EEG and CSF neurotransmitters. As of 2002, 49 cases have been reported. Aetiological factors have included autosomal dominant inheritance in four families, foetal exposure to sodium valproate in three cases, and structural lesions in five (hypomyelination x 2, periventricular leukomalacia, Vein of Galen malformation, pinealoma). Only a few cases have responded to L-dopa. The pathophysiology is still not understood. The outcome appears to be good in about half the cases. Ataxia, borderline cognitive abilities and residual minor oculomotor disorders are seen in the remainder.

Diagnosis, Differential↗
PubMed2006

Infantile midline facial hemangioma with agenesis of the corpus callosum and sinus pericranii: another face of the PHACE syndrome.

BACKGROUND: In the majority of cases, infantile hemangiomas are not associated with any other abnormalities. Occasionally, they may indicate the presence of systemic malformations. PHACE syndrome includes the coexistence of hemangioma, posterior fossa brain abnormalities, arterial anomalies, coarctation of the aorta, cardiac defects, and eye abnormalities. We report a case of a 2-month-old female with PHACE syndrome who also had sinus pericranii. CLINICAL CASE: A 2-month-old girl was seen for a plaque-like, segmental, midfacial hemangioma, with recurrent hemorrhages, noted at birth. As part of the PHACE syndrome, she had a midline facial hemangioma, absent corpus callosum, hypoplastic internal carotid artery, and an abnormal tortuous dysplastic basilar artery. Digital subtraction angiography showed sinus pericranii. The patient underwent successful endovascular embolization of the hemangioma that prevented further bleeding. CONCLUSION: Sinus pericranii is a rare finding that has not, to our knowledge, been previously associated with PHACE syndrome. Central nervous system, not only posterior fossa, abnormalities are frequently encountered in PHACE syndrome. Endovascular embolization of the facial hemangioma in our patient was a useful therapy.

Abnormalities, Multiple↗
PubMed1991

A novel approach to the assessment of afferent pupillary defects.

The pupil response to a flashing light stimulus was observed for a group of 26 healthy volunteer controls, and 15 patients with relative afferent pupillary defects (RAPDs). For the control group, the mean interval between flashes which would just produce a perceptible pupil response was 295 milliseconds (ms). The mean difference between right and left eyes was 8.84 ms. The mean difference between normal and abnormal eyes of the APD group was 78.6 ms. The difference between these results and those of the control group are highly significant statistically (p less than 0.001), and we conclude that this test may be of use in the assessment of defects of the afferent light pathways.

Adult↗
PubMed2004

Functional interactions between alternatively spliced forms of Pax6 in crystallin gene regulation and in haploinsufficiency.

Pax6 is essential for development of the eye, olfactory system, brain and pancreas. Haploinsufficiency of Pax6 causes abnormal eye development. Two forms of Pax6 protein, PAX6 and PAX6(5a), differ in a 14 amino acid insertion encoded by an alternatively spliced exon 5a in the N-terminal DNA-binding paired domain (PD), and they are simultaneously expressed. Here, we show that PAX6 and PAX6(5a) together synergistically activate transcription from promoters recognized by Pax6 PD and PD5a, but not by their homeodomain. This synergism promotes activation of transcription by c-Maf and MafA on the alphaB-crystallin promoter, and is required for transcriptional co-activation by RARbeta/RXRbeta and PAX6/PAX6(5a) on the gammaF-crystallin promoter. To determine the role of this synergism in haploinsufficiency, we tested four human missense (G18W, R26G, G64V and R128C) and one nonsense (R317X) mutants, with reporters driven by Pax6 PD consensus binding sites and the alphaB-crystallin promoter. The simultaneous activity of Pax6 proteins [PAX6, mutated PAX6, PAX6(5a) and mutated PAX6(5a)] modeling haploinsufficiency yielded results not predicted by properties of individual PAX6 or PAX6(5a). Taken together, these results indicate that complex ocular phenotypes due to Pax6 haploinsufficiency originate, at least partially, from functional interactions between alternatively spliced PAX6 and PAX6(5a) variants and other factors, e.g. MafA/c-Maf.

Alternative Splicing↗
PubMed2004

Vestibular evoked myogenic potentials in basilar artery migraine.

OBJECTIVES/HYPOTHESIS: Because the sacculocollic reflex is a descending pathway passing through the territory of basilar artery, the aim of the study was to investigate whether hypoperfusion affects this pathway by applying vestibular evoked myogenic potential (VEMP) testing in patients with basilar artery migraine. STUDY DESIGN: A prospective study from May 2000 to April 2002. METHODS: Twenty patients were diagnosed as having basilar artery migraine according to the criteria of the International Headache Society and literature. Eight were male and 12 were female patients, and their ages ranged from 9 to 48 years (mean age, 40 y). Each patient underwent a battery of audio-vestibular tests. RESULTS: Electronystagmography disclosed abnormal eye tracking test in six patients (30%), and there were abnormal optokinetic nystagmus test results in nine patients (45%). Caloric test revealed canal paresis in seven patients, directional preponderance in four patients, and normal responses in nine patients (45%). Vestibular evoked myogenic potential testing disclosed absent vestibular evoked myogenic potentials in seven patients and delayed vestibular evoked myogenic potentials in two patients, with one patient showing absent vestibular evoked myogenic potentials on one side and delayed vestibular evoked myogenic potentials on the other side. The remaining 10 patients (50%) had bilateral normal vestibular evoked myogenic potentials. Five patients had preserved both caloric and VEMP test responses, six patients displayed absent caloric and VEMP test responses, and the remaining nine patients had either abnormal caloric test responses or abnormal vestibular evoked myogenic potentials, exhibiting a nonsignificant relationship between caloric test responses and vestibular evoked myogenic potentials. Relief of headache and vertigo was achieved after 3 months of medication. Ten asymptomatic patients with either absent or delayed vestibular evoked myogenic potentials before treatment underwent follow-up VEMP test, and nine patients (90%) displayed normal vestibular evoked myogenic potentials bilaterally. CONCLUSION: Vestibular evoked myogenic potential testing evaluates the sacculocollic reflex, which descends through the lower brainstem. Some patients with basilar artery migraine have absent or delayed vestibular evoked myogenic potentials, presumably because the descending pathway from the saccule through the brainstem to cranial nerve XI is interrupted, which is attributed to hypoperfusion in the territory of the basilar artery. After 3 months of medication, recovery of normal vestibular evoked myogenic potentials in an asymptomatic patient indicates reversible ischemia in the territory of the basilar artery.

Adolescent↗
PubMed1990

Disorders of the visual system in Alzheimer's disease.

Alzheimer's disease (AD) is associated with disturbances in basic visual, complex visual, and oculomotor functions. The broad range of visual system disorders in AD may result from the concentration of neuropathology in visual association cortex and optic nerves in this disease. AD patients and their caregivers frequently report visuospatial difficulties in these patients. Examination of the visual system in AD may reveal visual field deficits, prolonged visual evoked potentials, depressed contrast sensitivities, and abnormal eye movement recordings. Complex visual disturbances include constructional and visuoperceptual abnormalities, spatial agnosia and Balint's syndrome, environmental disorientation, visual agnosia, facial identification problems, and visual hallucinations. The purpose of this article is to review the spectrum of visual system disturbances found in AD and, in particular, to describe the methods used to screen for complex visual abnormalities in these patients.

Alzheimer Disease↗
PubMed1990

Prevalence of undiagnosed eye disease in high-risk diabetic individuals.

A total of 533 diabetic individuals using the Marshall, Minn, medical care system were identified as potential subjects for a study of unrecognized eye disease. Of these, 172 (32%) stated they had never had an ophthalmologic eye examination and subsequently were defined as being at high risk for unrecognized diabetic eye disease. Ophthalmic examination was performed on 145 (84%) of these high-risk individuals and revealed that 61% had clinical characteristics consistent with diabetic retinopathy, glaucoma, cataract, or other eye abnormalities. Twenty-five (17%) of these subjects presented with eye disease that required immediate treatment, referral, or accelerated follow-up. Of those indicating they had an ophthalmologist, approximately 35% reported a time since last visit of 2 years or greater. These findings indicate a high prevalence of ocular morbidity among diabetic individuals who are not under routine ophthalmic surveillance and suggest that improvements in patient and professional compliance with recommended guidelines for eye care are warranted.

Adult↗
PubMed1994

[Slow-upward ocular bobbing in a patient with striatonigral degeneration].

We herein report a patient with the abnormal eye movement characterized by a conjugate slow-upward eye movement followed by a fast-downward movement to the primary position (slow-upward ocular bobbing). A 55-year-old man with a 12 years' history of striatonigral degeneration developed pneumonia and was admitted to our hospital. In addition to the parkinsonian features like akinesia and rigidity, examination revealed slow-upward ocular bobbing. There were no accompanying ocular abnormalities. This spontaneous eye movement was recognized throughout his stay in the hospital, irrespective of his consciousness level. Although other forms of ocular bobbing/dipping are usually associated with the loss of consciousness, all three reported patients with this slow-upward ocular bobbing were awake and responsive, therefore, suggesting a different kind of background pathophysiology in this unique eye sign.

Brain Diseases↗
PubMed1982

Identification of abnormal patterns in eye movements of schizophrenic patients.

Using precise infrared recording instrumentation, we measured the eye-movement patterns in six schizophrenic patients who were taking medication and found saccadic intrusions and saccadic smooth-pursuit tracking in three. This defined some of the eye-movement irregularities reported previously by many investigators. A variety of eye-movement functions in addition to smooth pursuit exhibited these abnormalities, including fixation, vergence, and head-eye pursuit. Saccadic intrusions or saccadic pursuit also occurs in a number of neuro-ophthalmologic disorders, and occasionally in healthy normal subjects. Thus, these eye-movement abnormalities do not occur exclusively in schizophrenia.

Adult↗
PubMed2002

Split hand/split foot, iris/choroid coloboma, hypospadias and subfertility: a new developmental malformation syndrome?

This paper presents a patient with the following malformations: split hand and split foot on the left side, a hypoplastic fifth ray of the right hand and a hypoplastic first ray of the right foot with a small cleft between the first and second ray; eye abnormalities which consist of a complete iris coloboma of the left eye in an atypical position (cranio-temporal) and a coloboma of the choroid in the right eye; a glandular hypospadias and terato-zoospermia. Since split hand/split foot can be caused by mutations in the p63 gene, mutation analysis of this gene was performed. However, sequencing analysis did not reveal a mutation. This malformation complex may represent a new syndrome.

Abnormalities, Multiple↗
PubMed2001

Corpus callosum agenesis, multiple cysts, skin defects, and subtle ocular abnormalities with a de novo mutation [45,XX,der(5), t(5;;14) (pter;q11.2)].

We report on a 2-year-old girl with a de novo mutation [45,XX,der(5),t(5;14) (pter;q11.2)] with corpus callosum agenesis, multiple cysts (cerebral and cardiac), subtle eye abnormalities, and at least two different skin defects, strongly indicating neuroectodermal involvement, as a neuromuscular choristoma (hamartoma) and an eccrine hamartoma. Fluorescent in situ hybridization with different single-locus probes showed that chromosome 5 has a very small deletion, confined to a region composed of repetitive sequences. By contrast, the long (q) arm of chromosome 14 seems to be much more involved in the rearrangement, with partial monosomy spanning from the centromere to the D14S72 and D14S261 loci. The extent of the deleted region of chromosome 14 is approximately 16 cM. To our knowledge, this is the smallest reported deletion involving the chromosome 14q11.2 region to be associated with a developmental disorder resulting in variable eye, skin, and brain anomalies. We suggest that a new syndrome, mimicking in some ways the MLS phenotype, is caused by a deletion in the chromosome 14q11.2 region.

Abnormalities, Multiple↗
PubMed1992

De Barsy syndrome: report of a case, literature review, and elastin gene expression studies of the skin.

Several "progeroid" syndromes have now been identified. The De Barsy syndrome is an autosomal recessive syndrome of dwarfism, mental deficiency, an "aged" appearance at birth, abnormal elastic fibers on skin biopsy, and lax skin, large helices, eye abnormalities, lax joints, hypotonia, and athetoid posturing. We report one case and review 11 cases from the literature. To understand the abnormal appearance of the elastic fibers on biopsy, we performed elastin gene expression studies on fibroblasts cultured from our patient's skin. Molecular hybridization studies revealed reduced elastin mRNA steady-state levels as compared with age matched control individuals. Assuming normal rates of mRNA translation, reduced elastin synthesis would occur. Diminished dermal elastin content could explain the altered cutaneous elasticity, decreased elastic fibers in the skin, and many clinical manifestations of individuals with this condition.

Child, Preschool↗