Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Congenital fibrosis of the extraocular muscles type 2 (CFEOM2) is a complex strabismus syndrome that results from mutations in the homeodomain transcription factor PHOX2A. To define the clinical and neuroimaging features of patients with this autosomal recessive syndrome, we studied 15 patients with genetically defined CFEOM2. All patients underwent full neurological, neuro-ophthalmological and orthoptic assessments. Twelve patients had pupillary pharmacological testing and nine had 3.0 tesla MRI of the brain, brainstem and orbits. Patients were born with severe bilateral ptosis and exotropia with almost complete bilateral absence of adduction, elevation, depression and intorsion. Variable abduction was present prior to strabismus surgery in 14 patients, and central ocular motility reflexes (smooth pursuit, saccades, vestibulo-ocular reflex and optokinetic reflex) were intact except for convergence. Pupillary light and near reflexes were not present, but irises were anatomically normal and responded to pupillary pharmacology. Neuroimaging of brain and brainstem was remarkable for the anatomical absence of cranial nerve (CN) 3 and probably CN 4 bilaterally. Therefore, the CFEOM2 phenotype and neuroimaging are both consistent with the congenital absence of CNs 3 and 4. Additional features included presence of most central ocular motility reflexes, a central lack of pupillary responsiveness of uncertain aetiology and modest phenotypic variability that does not correlate with specific PHOX2A mutations. Clinical presentation, neuroimaging and Phox2a-/- animal models all support the concept that CFEOM2 is a primary neurogenic abnormality with secondary myopathic changes.
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PMID:Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A. 1681 72

Retinoblastoma is the most frequent eye tumor in children, with an incidence of 1/15 000 births. Sixty per cent are unilateral: the median age at diagnosis is 2 years and most of these forms are not hereditary. Retinoblastoma is bilateral in 40%: the median age at diagnosis is 1 year. All bilateral and multifocal unilateral forms are hereditary. Hereditary retinoblastoma constitutes a cancer predisposition syndrome: a subject carrying a constitutional RB1 gene mutation has a greater than 90% risk of developing retinoblastoma, but is also at increased risk of developing secondary cancers. The 2 most frequent revealing symptoms are leucocoria and strabismus. Diagnosis is made by fundoscopy. US, MRI, CT scans may contribute to diagnosis. Management of patients with retinoblastoma must take into account the various aspects of the disease: the visual risk, the possibly hereditary nature of the disease and the life-threatening risk. Enucleation is still often necessary in unilateral disease; adjuvant treatment is decided according to the histological risk factors. Conservative treatment of at least 1 eye is possible in most of the bilateral cases: laser alone or combined with chemotherapy, cryotherapy and brachytherapy. The indication for external beam radiotherapy should be restricted to large ocular tumors and diffuse vitreous seeding because of the risk of late effects, including secondary sarcoma. Long-term follow-up and early information to retinoblastoma patients regarding the risk of second primary tumors and transmission is actually important.
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PMID:[Retinoblatoma: a review]. 1693 Sep 63

We report on a family in whom the combination of mental retardation (MR), anterior maxillary protrusion, and strabismus segregates. The healthy, consanguineous parents (first cousins) of Israeli-Arab descent had 11 children, 7 of whom (5 girls) were affected. They all had severe MR. Six of the seven had anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. None of the sibs with normal intelligence had jaw or dental anomalies. The child with MR but without a jaw anomaly was somewhat less severely retarded, had seizures and severe psychosis, which may point to his having a separate disorder. Biochemical and neurological studies, including brain MRI and standard cytogenetic studies, yielded normal results; fragile X was excluded, no subtelomeric rearrangements were detectable, and X-inactivation studies in the mother showed random inactivation. We have been unable to find a similar disorder in the literature, and suggest that this is a hitherto unreported autosomal recessive disorder, which we propose to name MRAMS (mental retardation, anterior maxillary protrusion, and strabismus).
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PMID:Autosomal recessive mental retardation syndrome with anterior maxillary protrusion and strabismus: MRAMS syndrome. 1761 76

Ataxia with ocular apraxia type 2 (AOA2) is an autosomal recessive, early onset ataxia caused by mutations in the senataxin (SETX) gene. Ocular apraxia and increased levels of alpha-fetoprotein are characteristic but not obligate markers of the disease. AOA2 is allelic with ALS4, a motor neuron disorder of early onset and autosomal dominant inheritance. We observed a two generation family with ataxia which started at age 14 and 17 in two sibs and at age 23 in their paternal uncle.Oculomotor disturbances included strabismus, saccadic pursuit and gaze evoked nystagmus. MRI revealed severe cerebellar atrophy. All patients presented pronounced peripheral neuropathy with wasting of hand and leg muscles resembling distal motor neuronopathy. Increased alphafetoprotein levels triggered genetic analyses of SETX. We found the sib pair to be compound heterozygous for a single base deletion c.2835delC, resulting in a frameshift mutation and causing nonsense related mRNA decay, and a base exchange c.6106G > A, resulting in abnormal splicing and skipping of exon 15. The similarly affected uncle was homozygous for the c.6106G > A mutation probably due to distant consanguinity in the paternal branch of the family. Pseudodominant occurrence in two generations has not been described before in AOA2 and led, in this family, to false categorization as dominant ataxia before SETX mutations were detected. Clinically this family presented with a phenotype combining typical features of AOA2 and ALS4; thus extending the phenotypic spectrum of SETX mutations.
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PMID:"Pseudodominant inheritance" of ataxia with ocular apraxia type 2 (AOA2). 1835 Mar 59

We report the case of a 13-year-old boy who presented at the emergency department for nausea and vomiting with ataxia and dissymmetry. He had strabismus as a consequence of palsy of the VI cranial nerve when 9 months old that was attributed to an allergy to penicillin. He had no relevant family history. Urgent CT and posterior MRI examination showed multiple supratentorial and infratentorial cavernous angiomas, one of which was located in the brainstem and presented acute hemorrhage, causing the symptoms. Angiography performed later showed no evidence of vascular malformations. The patient was initially managed conservatively, but the cavernous angioma in the brainstem was surgically extirpated after the patient's condition progressively worsened.
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PMID:[Intracranial cavernous angioma.]. 1928 34

Restless legs syndrome (RLS) exhibits sensorimotor symptoms. In familial cases, a gene at chromosomal location 9p-24-22 is linked to RLS and the expressed mutation is Dopamine Receptor Specific Individual Sensitivity (DRSIS). The symptoms are triggered during changes in alertness, generally at sleep hours, resulting from insufficient dopamine transmission. The conscious experience of sensory abnormalities are described as 'an urge to move the limbs with or without paresthesias' leading to motor signs such as periodic limb movements and motor restlessness which exhibit temporary loss of extensor motor system dominance over the flexor motor system of the upright posture. The relationship of the expressed mutation to EEG alpha activity makes RLS a sleep disorder as well as a cognitive dysfunction. The recurrent character of sensorimotor symptoms impede the patient's ability to sleep, wake and force to move leading to insomnia. In Uner Tan Syndrome, the nonsense mutation in the same gene leads to underdevelopment of the neural substrates of upright posture. The defects include dopamine receptor deficiency (DRD) leading to severe cognitive dysfunctions and motor disorders-complete loss of extensor motor system dominance over the flexor motor system-quadrupedality, primitive speech, cerebellar symptoms, and strabismus. Comparisons between the neural substrates of sensorimotor symptoms seen in RLS and MRI findings for cases of Uner Tan Syndrome show cortico-cerebellar hypoplasias in the neural networks involved in upright posture. Both RLS and Uner Tan Syndrome seem to be due to different mutations in the dopamine receptor gene at 9p-24 locus, affecting the diencephalon dopaminergic system and the neural networks involved in upright posture.
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PMID:In restless legs syndrome, the neural substrates of the sensorimotor symptoms are also normally involved in upright standing posture and biped walking. 1939 50

Incidental reports suggest that antenatal treatment of pyridoxine dependent seizures (PDS) may improve neurodevelopmental outcome of affected patients. Two families with PDS are reported, both with two affected siblings. Antenatal treatment with pyridoxine was instituted during the second pregnancy in each family (50 and 60 mg daily from 3 and 10 weeks of gestation, respectively). Perinatal characteristics and neurodevelopmental outcome at 4 (Family A) and 12 (Family B) years of age were compared between the untreated and treated child within each family. Meconium-stained amniotic fluid was present in both first pregnancies and abnormal foetal movements were noticed in one. In the treated infants, pregnancy and birth were uncomplicated. In family A, postnatal pyridoxine supplementation prevented neonatal seizures. Both children in family A were hypotonic and started walking after 2 years of age; both had white matter changes on MRI, and the first child was treated for squint. IQ was 73 and 98 in the antenatally untreated and treated child, respectively. The second child in family B developed seizures on the seventh day, because pyridoxine maintenance therapy had not been instituted after birth. Seizures responded rapidly to pyridoxine supplementation. MRI showed large ventricles and a mega cisterna magna. IQ was 80 and 106 in the antenatally untreated and treated child respectively. Both children had normal motor development. These results suggest that antenatal pyridoxine supplementation may be effective in preventing intrauterine seizures, decreasing the risk of complicated birth and improving neurodevelopmental outcome in PDS.
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PMID:Antenatal treatment in two Dutch families with pyridoxine-dependent seizures. 1958 65

The paper underlines the importance of the imagistic examination in the diagnosis and the therapeutical orientation in an orbital injury in a four year old child. The orbital injury ends with a foreign body (fragment of a pencil) in the orbit. The situation and the orientation of the foreign body was reveled by the computer tomography and the MIMICS program. Afterwards, the MRI exam ruled out a muscular injury and permitted a correct strabological diagnose and a correct strabismus surgery.
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PMID:[Role of diagnostic imaging in pediatric ophthalmology]. 1969 38

We report a case of acute comitant esotropia in a child with a cerebellar tumor. A 3-year-old boy was referred for management of a 9 month history of acute acquired comitant esotropia. On first presentation, the patient's angle of esodeviation was 50 prism-diopters (PD) at distance and near fixation without any lateral incomitance. The cycloplegic refraction revealed +0.75 diopters in both eyes. Very mild bilateral papilledema was found on the fundus examination, but the neurological examination did not reveal any other pathological findings. Brain MRI showed a 5 cm mass located in the midline of the cerebellum as well as hydrocephalus. The mass was completely excised and histological examination confirmed the diagnosis of pilocytic astrocytoma. Despite neurosurgery, the patient's strabismus remained unresolved. One year after neurosurgery, both medial rectus muscles were surgically recessed by 6 mm, resulting in esotropia of 8PD at distant and near fixation without restoration of bifoveal fusion at follow-up 2 years after the eye muscle surgery. Therefore, acute onset comitant esotropia in a child can be the first sign of a cerebellar tumor, even without any other neurological signs and symptoms.
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PMID:Acute comitant esotropia in a child with a cerebellar tumor. 1979 55

The paper underlines the importance of the imagistic examination in the diagnosis and the therapeutical orientation in an orbital injury in a four-year-old child. The orbital injury ends with a foreign body (fragment of a pencil) in the orbit. The situation and the orientation of the foreign body was revealed by the computer tomography and the MIMICS program. Afterwards, the MRI exam ruled out a muscular injury and permitted a correct strabological diagnose and a correct strabismus surgery.
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PMID:[The role of diagnostic imaging in pediatric ophthalmology]. 1989 50


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