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Peroneal muscular atrophy (PMA) may be occasionally associated with other neurodegenerative features including parkinsonism. We report the association of PMA of neuronal type with parkinsonism, ptosis and congenital strabismus in a 62-year-old Sicilian woman. The complete syndrome was present only in the proband, but variously combined features were present in ten other family members over four generations, with likely autosomal dominant inheritance. Although a similar syndrome of PMA, ptosis, parkinsonism and dementia was already reported, this family showed a previously undescribed combination of features in view of the presence of congenital strabismus.
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PMID:Peroneal muscular atrophy with parkinsonism, ptosis, and congenital strabismus. 825 67

The ophthalmologic findings associated with frontonasal dysplasia have not been defined previously in a large series of untreated children. We reviewed the ophthalmic manifestations of a series of patients with frontonasal dysplasia who were seen as part of their craniofacial evaluation. All had undergone a complete ophthalmologic examination before any manipulation of either the orbits or the soft tissues of the orbital contents. From 1986 to 1991, 23 patients with frontonasal dysplasia were seen; ophthalmologic abnormalities were found in 20 (87 percent). Abnormalities included significant refractive errors, strabismus, nystagmus, and eyelid ptosis. Three patients had amblyopia, a treatable cause of visual loss, from strabismus or anisometropia. Ten eyes in seven patients (30 percent) had severe structural anomalies, such as optic nerve hypoplasia, optic nerve colobomas, microphthalmia, cataract, corneal dermoid, or inflammatory retinopathy, that resulted in an acuity of 20/100 or worse. The high incidence of ocular abnormalities indicates that early assessment by an ophthalmologist should be part of the initial evaluation of patients with frontonasal dysplasia to detect treatable visual or ocular problems.
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PMID:Ocular manifestations of frontonasal dysplasia. 827 82

Four Chinese infants and children (3 females & 1 male), aged from five months to three years, are diagnosed with Joubert syndrome by clinical and radiological findings. The clinical presentations included panting respiration with apnea in the newborn period (4/4), psychomotor retardation (4/4) and ataxia (2/4). The ocular findings were strabismus (3/4), unilateral ptosis (2/4), jerky eye movement (1/4) and retinal atrophy (1/4). Associated cerebral anomalies were occipital encephalocele (1/4) and hypoplasia of corpus callosum (1/4). All four underwent electroencephalography, abdominal ultrasonography, auditory and visual evoked potential tests; results were all normal. Two patients underwent electroretinogram with normal findings. The brain magnetic resonance imagings of all four patients showed dysgenesis of cerebellar vermis. For children presenting with ataxia and psychomotor retardation, Joubert syndrome is a more obvious diagnostic choice, but it is also important to keep this unusual disorder in mind as a differential diagnosis of neonatal tachypnea with apnea.
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PMID:Joubert syndrome in Chinese infants and children: a report of four cases. 829 32

Ophthalmic surgery is one of the most valuable indications for ambulatory anaesthesia (AA). Respecting the usual recommendations for AA and the specificity of ophthalmic surgery, AA has very few problems. In USA it concerns about 90% of ophthalmic surgery. Most of the patients are very young or very old. Adults are often poly-medicamented: diabetes and arterial hypertension are the most frequent pathologies. A lot of multivisceral pathologies are responsible of ocular diseases and can complicate anaesthesia. It is necessary to diagnose them before anaesthesia. Maligna hyperthermia risk is increased during strabismus and ptosis surgery. Some ocular treatments have systemic repercussion and require to be stopped before anaesthesia. Most of ophthalmic surgery can be practiced under any types of local anaesthesia. In postoperative of strabismus and retinal detachment repair, pain, nausea, vomiting are frequently observed. Their prevention is not very well known. The atropine used for cardiac reflex treatment may be responsible of an acute urine retention or a disorientation in elderly patients and delays the home readiness. Paper and pencil tests after general anaesthesia are very difficult to do, because requesting a good vision. The postoperative complications are essentially surgical complications.
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PMID:[Characteristic problems posed to the anesthetist by ambulatory surgery in ophthalmology]. 840 83

The cardio-facio-cutaneous (CFC) syndrome is an uncommon multiple congenital anomalies/mental retardation syndrome whose major manifestations are congenital heart defects, relative macrocephaly, stunted growth, ectodermal dysplasia, characteristic facial appearance, and psychomotor developmental delay. All described cases were sporadic and cytogenetically normal. We report three additional patients with this diagnosis. All three patients developed strabismus, requiring extraocular muscle surgery. Two of our patients also had nystagmus. Combining the 18 previously reported cases with our additional 3, 9 of 21 had strabismus, 10 of 21 had ptosis, and 6 of 21 had nystagmus. Ophthalmic craniofacial abnormalities of hypoplastic supraorbital ridges, prominent epicanthal folds, and antimongoloid slant of the palpebral fissures were also common features contributing to the characteristic facies described for this syndrome. The ophthalmologist could aid in the diagnosis and treatment of these patients because of the prominent ophthalmologic symptomatology of the CFC syndrome.
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PMID:The ophthalmologic manifestations of the cardio-facio-cutaneous syndrome. 845 27

Clostridium botulinum A exotoxin (Botox) is the most potent toxin known to man. It produces a reversible paralysis of cholinergically innervated muscle, an effect useful in the management of non-accommodative strabismus and various disabling focal dystonias. In the present study, botulinum toxin (Botox) was used to treat congenital nystagmus, injecting the toxin into multiple horizontal rectus muscles at the same treatment session. Three of four patients achieved a significant enough change in acuity to receive daytime-restricted driver's licenses. No treatment was complicated by retrobulbar hemorrhage, ocular perforation, or ptosis. Two patients are continuing the Botox treatments every 3 to 4 months.
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PMID:The treatment of congenital nystagmus with Botox. 853 Oct 35

One hundred and fifty-two patients with the Williams-Beuren syndrome were examined to assess the frequency and severity of ophthalmological features associated with the disorder. Eighty-two (54%) had strabismus, all but three, esotropia. One hundred and seventeen (77%) patients had blue irides, 10 (7%) green, and 25 (16%) brown. One hundred and twelve (74%) showed a typical so-called stellate iris pattern of the anterior stroma. Whitish anomalies were also detectable in brown irides. Two 9-year-old patients and one 46-year-old patient had initial cataract. Of all the patients with funduscopy, 22% had retinal vascular tortuosity. One patient had suspected Rieger syndrome. Two patients had ptosis, one with a Marcus-Gunn phenomenon. No ocular manifestation of hypercalcaemia was noted.
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PMID:The spectrum of ocular features in the Williams-Beuren syndrome. 872 68

We describe the clinical manifestations of an autosomal dominant form of craniosynostosis in a large family with eight affected relatives. Unilateral or bilateral coronal synostosis, low frontal hair line, strabismus, ptosis, and partial cutaneous syndactyly of fingers and toes are findings suggestive of the diagnosis of Saethre-Chotzen syndrome. The disease locus was excluded from the two adjacent Saethre-Chotzen candidate regions on 7p by linkage analysis with markers D7S664 and D7S507. This indicates heterogeneity of Saethre-Chotzen syndrome with a locus outside the candidate regions on 7p.
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PMID:Craniosynostosis suggestive of Saethre-Chotzen syndrome: clinical description of a large kindred and exclusion of candidate regions on 7p. 872 6

The frequency of genetic eye diseases in a genetic counseling center: In this study the incidence of eye diseases of genetic origin in patients attending our genetic counseling center for a period of almost six years is documented. The frequency of retinitis pigmentosa, congenital cataracts, lens dislocation, microphthalmos, retinoblastoma, congenital glaucoma, congenital ptosis, degenerative myopia, strabismus, optic atrophy, various genetic metabolic diseases have been investigated, and the results are presented. Preventive approaches and prenatal diagnostic possibilities are discussed and the importance of genetic counseling is emphasized.
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PMID:The frequency of genetic eye diseases in a genetic counseling center. 877 20

The incidence of amblyopia in the normal population is 2-6%, whereas among patients with congenital ptosis it can be as high as 50%. We reviewed 146 cases of congenital ptosis in patients aged between 5 months and 15 years and compared them to a control group of 34 age- and sex-matched patients. In 78 children (156 eyes) reliable optotype visual acuity could be obtained. Fifty-three eyes (34%) were amblyopic. Ametropia was responsible for 34% and anisometropia for 28.3% of the amblyopia cases. In 25.4% of cases strabismus, and in 11.34% stimulus deprivation, was the reason for the development of amblyopia. Children with congenital ptosis should have retinoscopy done in cycloplegia, and refractive errors should be corrected early. Controlled patching therapy should also be started early. Since stimulus deprivation amblyopia is rare, congenital ptosis need not be corrected early in life.
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PMID:[Amblyopia, refractive errors and strabismus in congenital ptosis]. 896 29


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