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PubMed1977

The trisomy 4p syndrome: case report and review.

We report a further case of trisomy 4p: a 5-year-old mentally retarded boy with characteristic facial features, eye abnormalities, flexion contractures, several bone anomalies, and hyperactivity. In a review of 27 cases (11 male, 16 female, 22 families) the cytogenetic and clinical data were tabulated and analyzed. Diagnosis is established by karyotype: there is always partial or apparently "total" trisomy of the short term arm of chromosome 4. In 19 families a parent carried either a balanced translocation (16 times) or a pericentric inversion (3 times); 3 patients had de novo duplication of 4p. In several cases, additional deletions or trisomies were present. From the analysis of all cases, but particularly of the "pure" trisomies, the phenotypic spectrum of this condition was observed and found to be a specific multiple congenital anomaly/mental retardation (MCA/MR) syndrome. Its main features are a characteristic facial appearance, postnatal growth retardation, severe psychomotor retardation with or without seizures, microcephaly, and various major and minor anomalies.

Bone and Bones↗
PubMed2000

Hypoplastic basement membrane of the lens anlage in the inheritable lens aplastic mouse (lap mouse).

Adult homozygous lap mice show various eye abnormalities such as aphakia, retinal disorganization, and dysplasia of the cornea and anterior chamber. In the fetal eye of a homozygous lap mouse, the lens placode appears to develop normally. However, the lens vesicle develops abnormally to form a mass of cells without a cavity, and the mass vanishes soon afterward. Apoptotic cell death is associated with the disappearance of the lens anlage. We examined the basement membranes of the lens anlage of this mutant by immunohistochemical methods under light microscopy using antibodies against basement membrane components of the lens anlage, type IV collagen, fibronectin, laminin, heparan sulfate proteoglycan, and entactin and by transmission electron microscopy. Immunohistochemistry showed the distribution and intensity of antibody binding to the lens anlage to be almost the same for each these antibodies regardless of the stage of gestation or whether the anlagen were from normal BALB/c or lap mice. Thus, positive continuous reactions were observed around the exterior region of the lens anlage from day 10 of gestation for type IV collagen, fibronectin, laminin, heparan sulfate proteoglycan antibodies, and at least from day 11of gestation for entactin antibody. The basement membrane lamina densa of both normal and lap mice was shown by electron microscopy to be discontinuous at days 10 and 10.5 of gestation. However, by day 11 the lamina densa was continuous in the lens anlagen of normal mice but still discontinuous in the lap mice. By day 12 of gestation, the lamina densa had thickened markedly in normal mice, whereas in lap mice it remained discontinuous and its thinness indicated hypoplasia. These results indicate that, while all basement components examined are produced and deposited in the normal region of the lens anlage in the lap mouse, the basement membrane is, for some reason, imperfectly formed. The time at which hypoplasia of the basement membrane was observed in this mutant coincided with the stage during which apoptosis in the lens anlage occurred. This result may indicate a possibility of the relationship between the basement membrane and apoptosis in this mutant.

Animals↗
PubMed1998

Apoptosis in the lens anlage of the heritable lens aplastic mouse (lap mouse).

Adult homozygous lap mice show various eye abnormalities, such as aphakia, retinal disorganization, and dysplasia of the cornea and anterior chamber. In the fetal eye of a homozygous lap mouse, the lens placode seems to develop normally. However, the lens vesicle progresses abnormally to form a mass of cells without a cavity, and the mass vanishes soon afterward. We examined cell death in the lens anlage of this mutant. The lens anlagen of homozygous lap and normal mice from days 10 to 12 of gestation were observed by light microscopy after DNA end-labeling by immunohistochemistry and by transmission electron microscopy. By light microscopy, a slight frequency of cell death was detected in the lens anlage encircling the surface ectoderm and in the anlage or in the anlage of both homozygous lap mice and normal mice at day 10 of gestation. Cell death was seen in the lens anlage encircling the surface ectoderm in the normal mouse and sporadically in the anlage of the homozygous lap mouse at day 10.5 of gestation. Cell death was visible at the area of the lens vesicle attached to the surface ectoderm and encircling the surrounding surface ectoderm in the normal mouse, and in the lens anlage encircling the surface ectoderm and the apex areas of the lens anlage in the homozygous lap mouse at day 11 of gestation. At day 12 of gestation, almost no cell death was observed in the lens anlage of the normal mouse. However, extensive areas of cell death were still seen in the lens anlage at its apex, at the inner region, and encircling the surface ectoderm in the homozygous lap mouse. Electron microscopic observation showed that the dead cells observed in the lens anlagen by light microscopy in normal and lap mice are the result of apoptosis. In lap mice, cells with cytoplasmic condensation were observed mainly at days 10 and 10.5 of gestation. Many apoptotic bodies which had been phagocytosed by adjacent cells were seen predominantly at day 11 of gestation. At day 12 of gestation, apoptotic bodies phagocytosed by adjacent cells, which were seen at day 11, were still predominant, but there were more apoptotic bodies per cell and more digested apoptotic bodies than at day 11. These results indicate that cell death, resulting from apoptosis is involved in the disappearance of the lens anlage of lap mice.

Animals↗
PubMed1981

Abnormal visual-evoked responses and opsoclonus.

A 73-year-old woman presented with classic opsoclonus two weeks following an acute febrile illness. Four weeks later a complete clinical recovery was evident. Six weeks after onset of the problem, or 2 weeks after resolution of the abnormal eye movements, a pattern reversal visual evoked response showed a delayed response in both eyes and had an unusually high amplitude. For the next 2 months the patient complained of occasional blurring of vision. A repeat visual evoked response test after 4 months revealed normal latency and amplitude in both eyes. The possible mechanisms for the visual evoked response abnormality are discussed.

Aged↗
PubMed1997

Joubert syndrome associated with multicystic kidney disease and hepatic fibrosis.

There are several diseases characterized by renal cysts and neurological abnormalities. Joubert syndrome is distinguished by hypoplasia of the cerebellar vermis, hypotonia, retinal dystrophy characterized by abnormal eye movements, and impaired psychomotor development, together with abnormal respiratory pattern. We describe a boy with Joubert syndrome associated with multicystic renal dysplasia and hepatic fibrosis. We speculate that the association of malformations of the renal and nervous systems in this syndrome and others are not random. Concomitant malformations of these systems are likely based upon their common developmental and genetic features.

Brain↗
PubMed2001

Primary defects in the lens underlie complex anterior segment abnormalities of the Pax6 heterozygous eye.

We describe lens defects in heterozygous small eye mice, and autonomous deficiencies of Pax6(+/-) cells in the developing lens of Pax6(+/+) <--> Pax6(+/-) chimeras. Two separate defects of the lens were identified by analyzing the distribution of heterozygous cells in chimeras: Pax6(+/-) cells are less readily incorporated into the lens placode than wild type, and those that are incorporated into the lens are not maintained efficiently in the proliferating lens epithelium. The lens of chimeric eyes is, therefore, predominantly wild type from embryonic day 16.5 onwards, whereas heterozygous cells contribute normally to all other eye tissues. Eye size and defects of the iris and cornea are corrected in fetal and adult chimeras with up to 80% mutant cells. Therefore, these aspects of the phenotype may be secondary consequences of primary defects in the lens, which has clinical relevance for the human aniridia (PAX6(+/-)) phenotype.

Animals↗
PubMed2006

Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase.

Peters Plus syndrome is an autosomal recessive disorder characterized by anterior eye-chamber abnormalities, disproportionate short stature, and developmental delay. After detection of a microdeletion by array-based comparative genomic hybridization, we identified biallelic truncating mutations in the beta 1,3-galactosyltransferase-like gene (B3GALTL) in all 20 tested patients, showing that Peters Plus is a monogenic, primarily single-mutation syndrome. This finding is expected to put Peters Plus syndrome on the growing list of congenital malformation syndromes caused by glycosylation defects.

Adult↗
PubMed1982

Eye patching and visual evoked potential acuity in children four months to eight years old.

The monocular visual acuities of six children aged 4 months to 8 years were measured using visual evoked potentials (VEP's) before and during patching therapy. A seventh child had both Snellen and VEP monocular acuities determined before patching. In a cooperative child, it was estimated that VEP acuity was within 0.25 octaves (one line on an eye chart) of Snellen acuity. In the four children less than 3 years of age, patching resulted in a 1.8-octave decrease in acuity of the patched eye and a 2.0-octave improvement in the unpatched eye. After cessation of patching therapy, acuity of the previously patched eye improved 2.0 octaves and that of the abnormal eye declined 1.75 octaves. In the two children older than 4 years, patching resulted in 1.25-octave acuity decrease in the patched eye. Cessation of patching resulted in a 1.25-octave improvement in acuity of the patched eye. No permanent deleterious effects of patching on acuity were observed.

Age Factors↗
PubMed2003

Unusual side effects of lamotrigine therapy.

An 8-year-old boy developed tremor, unsteadiness, chorea, and eye movement abnormalities on starting lamotrigine for myoclonic jerks. Investigations for a neurodegenerative disorder were negative. Symptoms and signs resolved on stopping lamotrigine. He was well and asymptomatic on follow-up after 4 years. Another 7-year-old boy who started on lamotrigine for suspected absence seizures developed abnormalities of eye movement with associated cognitive decline, which also resolved on discontinuing the medication. Eye movement abnormalities, involuntary movements, and behavioral changes appear to be unusual side effects of lamotrigine therapy.

Anticonvulsants↗
PubMed1979

[Supranuclear lateral gaze palsy of pontine origin. Report of 2 clinicopathologic cases with electrooculographic and electromyographic data].

Electro-oculographic, electromyographic and pathological findings in two cases of supranuclear lateral gaze palsy of pontine origin have allowed us to define the clinical and physiopathologic features of the Pontine Reticular Formation (PRF) syndrome, and to formulate hypothesis about the terminal portion of the Occipito-Pontine Tract (OPT) involved in horizontal pursuit eye movements. The unilateral PRF syndrome is characterized by abnormal eye movements in the direction of the lesion. In the ipsilateral hemifield of movement there is paralysis of all movements from midline to extreme ipsilateral side, except oculo-cephalic reflex which remains intact (dissociated palsy); in the contralateral hemifield all saccades from extreme contralateral side to midline are suppressed, and this constitutes a specific abnormality of the PRF syndrome: quick phase of optokinetic and vestibular nystagmus are absent, while voluntary gaze is preserved but remarkably slow. It is suggested that this last fact is due to simple disfacilitation arising from undamaged PRF. Electromyographic findings suggest that the division between excitatory and inhibitory fibers of descending supranuclear oculomotor tracts ending in the abducens nuclei probably occurs in the lower pans. Anatomopathologic findings in the two cases show that the OPT runs in front of the Medial Longitudinal Fasciculus or in the lateral tegmentum and that it decussates, at least once, below the upper pons.

Abducens Nerve↗
PubMed1986

Hydrocephalus, lissencephaly, ocular abnormalities and congenital muscular dystrophy. A Warburg syndrome variant?

The authors report a family in whom three members suffered from congenital hydrocephalus and ocular abnormalities. One of these patients showed along with these symptoms congenital muscular dystrophy. In this child, autopsy disclosed severe cerebral malformations consisting of lissencephaly, arhinencephaly, stenosis of aqueduct, Dandy-Walker cyst and cerebellar micropolygyria. The mode of transmission, the eyes abnormalities and the neuropathological findings of this family resemble the clinical and pathological aspects of Warburg syndrome. However, the presence of congenital muscle dystrophy in one of these children suggests some links with Fukuyama's congenital muscular dystrophy and/or with so-called brain-eye-muscle disease of Santavuori. These three syndromes are shortly discussed. The present case and few others reported in the literature obviously represent a severe and lethal form of a congenital disease involving brain, muscle and eyes.

Abnormalities, Multiple↗
PubMed1975

Experimental studies on a lethal gene (1) in the Mexican axolotl, Ambystoma mexicanum.

1. Gene ł is a recessive lethal factor found in the white strain of axolotls. Animals heterozygous for the gene are phenotypically normal. When mated with each other they give offspring 25% of which exhibit the lethal effects of the gene. 2. The ł/ł homozygotes develop normally to an advanced embryonic stage (Harrison stage 40) before the effects of the gene are first manifested. They then come to display a characteristic combination of abnormalities, including a disproportionately small head, small and poorly developed eyes, abnormal poorly developed gills, undifferentiated limb buds, and reduced overall growth rate. They may feed briefly, but soon stop and invariably die within a few weeks of the time of hatching. 3. The action of gene ł has been analyzed by parabiosing mutant and normal embryos, and by grafting various organ primordia reciprocally between mutant and normal embryos. Parabiosis to normal embryos fails to correct the abnormalities of the mutants, although their survival may be somewhat prolonged. Grafts of mutant organ primordia (eye, limb, gill, pronephros, gonad, head) also invariably fail to show improved development or to survive on normal hosts; normal organ primordia develop normally on mutant hosts so long as the mutant survives. These experiments indicate that gene ł is a recessive autonomous cell lethal affecting all of the organ systems during late embryonic and early larval development.

Ambystoma↗
PubMed2003

The prospects for super-acuity: limits to visual performance after correction of monochromatic ocular aberration.

It has recently been suggested that correction of the monochromatic aberration of the eye could lead to substantial improvements in visual acuity and contrast sensitivity function. After consideration of the best-corrected visual acuity of normal eyes, the optical and neural limits to visual performance are reviewed. It is concluded that, even if current problems with the accuracy of the suggested techniques of aberration correction, through corneal excimer laser ablation or customised contact lenses, can be overcome, changes in monochromatic ocular aberration over time, the continuing presence of chromatic aberration, errors of focus associated with lags and leads in accommodation, and other factors, are likely to result in only minor improvements in the high-contrast acuity performance of most normal eyes being produced by attempted aberration control. Significant gains in contrast sensitivity might, however, be achievable, particularly under mesopic and scotopic conditions when the pupil is large, provided that correct focus can be maintained. In the immediate future, reduction of the high levels of aberration that are currently found in eyes that have undergone refractive surgery and in some abnormal eyes should bring useful benefits.

Accommodation, Ocular↗
PubMedDate not supplied

Long-term results of bilateral medial rectus recession for congenital esotropia.

PURPOSE: This study assessed the long-term results of orthophoria obtained with bilateral medial rectus recession for congenital esotropia. PATIENTS AND METHODS: The medical records of 214 patients who underwent bilateral medial rectus muscle recession between January 1995 and January 2000 were reviewed. Patients were excluded if neurological abnormalities or developmental delays were documented and if structural eye abnormalities were present. Mean follow up was 54.2 months (range, 36 to 96 months). Rates of reoperation for residual esotropia, consecutive exotropia, oblique muscle overaction, or dissociated vertical deviation were determined. RESULTS: Forty-five (21%) patients underwent surgery for residual esotropia, 32 (15%) underwent surgery for consecutive exotropia or dissociated horizontal deviation, and 39 (18%) underwent surgery for oblique muscle overaction and dissociated vertical deviation. CONCLUSION: To maintain long-term alignment of congenital esotropia, additional surgical procedures may be required. The success rate of bilateral medial rectus recession for ocular realignment with one operation is approximately 50%. This method is quicker, simpler, and less traumatic than three or four muscle operations. In addition, the lateral rectus and oblique muscle are left unoperated for future surgeries if necessary.

Child, Preschool↗