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 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Leber's congenital amaurosis is a hereditary clinical disorder that may be associated with several different diseases. This study consists of a retrospective review of 43 cases. Twenty of our patients had fundus appearances that resembled retinitis pigmentosa. Five had normal-appearing fundi. The remainder had other, previously reported fundus abnormalities, with the exception of two patients who demonstrated a new fundus finding, a nummular pigmentary pattern. Other associated eye anomalies included cataracts, keratoconus, ptosis, and strabismus. The most frequent systemic associations were mental retardation, cystic renal disease, skeletal disorders, and hydrocephalus.
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PMID:Leber's congenital amaurosis. Retrospective review of 43 cases and a new fundus finding in two cases. 382 12

Strabismus, ptosis, lateral canthal dystopia, nasolacrimal obstruction, and cranial nerve palsy were noted preoperatively in 32%, 21%, 14%, 12%, and 9% of 34 patients, respectively, undergoing ophthalmologic evaluation prior to unilateral orbital advancement for plagiocephaly. Thirty-two percent of the patients had normal preoperative ocular and adnexal examination results. Ptosis, strabismus, and amblyopia were frequently acquired postoperative abnormalities in 29%, 18%, and 18% of the patients, respectively. Forty-four percent of the patients had no new abnormalities following craniofacial surgery.
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PMID:Ocular and adnexal complications of unilateral orbital advancement for plagiocephaly. 382 16

Eighty-five adults with horizontal concomitant strabismus were treated with an injection of a low dose of botulinum toxin A (BTXA) into the lateral or medial rectus muscle. The ocular deviation was reduced by an average of 60% independently of its size and whether or not surgery had previously been performed. The change was temporary, however, except in those cases with binocular functions, when fusion was re-established. Repeated low dose injections can maintain the improvement, but at higher doses, although larger reductions are produced, temporary local side effects--ptosis and vertical strabismus--are common. The technique is simple, well tolerated, and has no systemic side effects.
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PMID:Treatment of strabismus in adults with botulinum toxin A. 405 54

Purified botulinum A exotoxin was used to treat 9 adults with strabismus, 22 adults with incapacitating essential blepharospasm and 1 adult with "senile" spastic lower-eyelid entropion. Eight of the strabismus patients received one injection each into one horizontal extraocular muscle under electromyographic control in the outpatient clinic; the ninth patient received two injections. One week after the injection there was an 81% change on average in the angle of deviation. In the three patients followed up for 4 to 9 months the average change was 66%. For the patients with blepharospasm the toxin was injected into the orbicularis oculi. Relief of spasm lasted an average of 12 weeks after the first treatment and 15 weeks after the second. In the patient with spastic entropion the symptoms resolved with repeated injection of the lower-lid orbicularis. In all three groups the injections were well tolerated. The main complication was transient ptosis, which occurred in about 30% of the first two groups.
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PMID:Ophthalmologic use of botulinum A exotoxin. 405 62

Malignant hyperthermia is a potentially fatal complication of general anesthesia that may occur with greater frequency in some patients with ptosis or strabismus. The history of our knowledge of this recently described condition is outlined. The clinical features, pathophysiology, and differential diagnosis are reviewed in detail. A protocol for the treatment of the acute malignant hyperthermia crisis and guidelines for the management of susceptible patients are suggested. The medicolegal implications of the occurrence of such a crisis are discussed.
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PMID:Malignant hyperthermia. 635 12

We performed complete ophthalmological examinations of 30 consecutive patients with Turner syndrome. Twenty-three had 45XO and 7 had 45XO/46XX karyotypes (mosaicism). Non-familial strabismus was the most prominent ocular abnormality and was present in 33% of the patients. Other eye findings included ptosis (16%), hypertelorism (10%), epicanthus (10%), and antimongoloid slants (10%). Red-green color deficiency was found in 10% of the patients. One patient had congenital periodic alternating nystagmus.
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PMID:Ocular findings in Turner syndrome. A prospective study. 649 1

Phenotypic, karyotypic, and developmental homology between affected children of carriers of an inverted insertion (9) (q22.1q34.3q34.1) led to recognition of a new chromosome syndrome: dup 9q34. Individuals with dup 9q34 have slight psychomotor retardation, understand simple directions, and acquire a limited vocabulary. In childhood, many are hyperactive. Clinical features include low birth weight, normal birth length, and initial poor feeding and thriving. Musculo-skeletal systems are affected: there are joint contractures, long thin limbs, and striking arachnodactyly. There is abnormal implantation of the thumb, increased space between the first and second fingers, and excess digital creases. Marfan syndrome was a provisional diagnosis for several cases prior to cytogenetic analysis. Cardiovascular and ocular systems are minimally affected, erythema and heart murmurs occur, and ptosis and strabismus are frequent, but lens dislocation is not observed. Features at birth include: dolichocephaly, facial asymmetry, narrow horizontal palpebral fissures, microphthalmia, prominent nasal bridge, small mouth, thin upper lip with down-turned corners, and slight retrognathia. In older children, retrognathia is diminished and the nose becomes long and narrow. The new culture and chromosome banding techniques enable sorting of cases with the distal dup 9q phenotype into two groups. The cases with a longer dup 9q are more likely to develop with life-threatening congenital anomalies. The cases with the shorter dup 9q34 have a less severe long-term prognosis and will benefit, together with their parents, from special education. Female carriers of the inv ins(9) (q22.1q34.3q34.1) have about a 31% risk in each pregnancy to conceive a fetus affected by the dup 9q34 syndrome. A comparable figure is not yet available for male carriers.
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PMID:Duplication 9q34 syndrome. 661 95

Four generations of a family with craniofacial dysostosis were studied. All the members of the family affected by the disease had craniofacial abnormalities combined with ptosis on the left and some members also had convergence strabismus. A strong genetic correlation between ptosis and squint was found.
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PMID:[A contribution on Crouzon's disease]. 663 78

We have undertaken 3 lines of research aimed at the eventual transformation of the laboratory-based preferential looking (PL) acuity-testing procedures into clinically-useful techniques. (1) The first line of research involves studies of the parameters of PL testing, and the establishing of norms for various groups. The results show that acuity development is closely tied to gestational age, that infants' acuity is reduced at low luminances but does not vary significantly at levels above 1 log cd/m2, and that monocular acuity is poorer than previously-published binocular acuity norms. (2) The second line involves the development of a shortened procedure (the 'diagnostic grating' procedure) that maximizes the certainty of gaining the most critical information from an infant in a short time. In this procedure, the infant is tested with a low spatial frequency grating to screen for blindness or total lack of visual response, and another grating of a spatial frequency that is diagnostic of normal acuity for children of the patient's age. Based on the results with these two gratings and the time available, the child is then tested with other gratings to refine the acuity estimate. (3) The third line of research involves using the procedure, in a laboratory setting, with individual infants and children at risk for visual acuity deficits. Longitudinal case histories of patients with strabismus, ptosis, and suspected blindness are presented.
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PMID:Clinical applications of preferential looking measures of visual acuity. 668 22

Fifty-four consecutive surgical cases of congenital ptosis were carefully evaluated to determine the incidence of refractive errors, strabismus and amblyopia. Of these patients, 70% had a refractive error, 43% had an astigmatism of more than 1.0, 55% had anisometropia, 27.5% had concomitant squint and 50% amblyopia.
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PMID:[Refractive errors, amblyopia and strabismus in congenital ptosis]. 670 84


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