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Congenital ocular toxoplasmosis is a significant cause of blindness. Retinochoroiditis is the most common finding, but other ocular manifestations include microphthalmus, nystagmus, strabismus, and ptosis. The serologic tests and lymphocyte stimulation test are the most useful aids in making the diagnosis. Pyrimethamine, sulfonamides, and corticosteroids are useful to treat active lesions. Primary care physicians, obstetricians, and ophthalmologists may help to prevent transmission of the disease and its serious ocular sequelae.
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PMID:Congenital ocular toxoplasmosis. 682 9

Amblyopia was detected in 15 of 55 children with unilateral congenital ptosis. Anisometropia was the main cause of the amblyopia in 10 cases, and strabismus alone was the cause in 2 cases. In three cases amblyopia developed after ptosis surgery.
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PMID:Unilateral congenital ptosis and amblyopia. 687 90

The fetal alcohol syndrome (FAS) occurs in children born by alcoholic mothers. The syndrome consists of growth deficiency of prenatal onset, central nervous system effects with retarded mental and motor development and malformations of various organs, the most striking being the facial abnormities. There is a small head circumference and midfacial deformities. Typical eye features are telecanthus, epicanthus, short palpebral fissures, a flat nose bridge, ptosis, microphthalmus and strabismus. 30 children with FAS were examined for defects of the inner parts of the eyes. Malformations of the optic discs and retinal vessels were the most frequent findings, occurring in 16 children. Another five children had borderline findings. Nine had bilateral hypoplasia of the optic discs, eight of them also with changes of the retinal vessels, most often increased tortuousity. Four children showed bilateral optic atrophy. One of them also had highly tortuous retinal vessels. One girl had very tortuous retinal vessels without other findings in her fundi. One boy had pronounced malformations of both eyebulbs and another boy had bilateral changes of his eyeground structures. Various intraocular malformations were observed in 53% of the children with FAS.
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PMID:Eyeground malformations in the fetal alcohol syndrome. 689 Aug 60

In a series of 24 patients with Turner's syndrome, amblyopia was found to be present in ten (41.6 per cent), strabismus in nine (37.5 per cent), hypermetropia in ten (41.6 per cent), ptosis in seven (29.1 per cent), and bilateral epicanthus in eleven (45.8 per cent) cases. Turner (1938) described a syndrome of infantilism, congenital webbed neck, and cubitus valgus, which has come to be known as Turner's syndrome. Since then many cases have been reported and multiple other associated features have also been recognized. Isolated ocular features have been mentioned in some sporadic case reports (Cunningham and Harley, 1951; Laurent, Royer, and Noel, 1961; Lessell and Forbes, 1966; Khodadoust and Paton, 1967; Szymanska and Szymanski, 1976; Troupe and Troupe, 1981). So far no significant series of cases has been studied to assess the ocular defects. This report of a series of 24 patients presents classified ophthalmic features.
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PMID:Ocular manifestations of Turner's syndrome. 696 61

The history of a family with aniridia (11 patients) is presented. Morphologically the following changes were found: Ptosis, microcornea, anterior embryotoxon, defects of the iris ranging from corectopia and coloboma to hypoplasia of the iris and clinical aniridia cataracts and hypoplasia of the fovea. Functionally there was reduced visual acuity (best vision 0.2), nystagmus and strabismus. Dark adaptation, electrooculogram, photopic and scotopic electroretinogram were within normal limits. The patients were found to have a red-green color vision deficiency, which was perhaps caused by foveal hypoplasia and nystagmus, and a trito defect which could not be explained.
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PMID:[Morphological and functional findings in a family with aniridia (author's transl)]. 697 63

The purpose of this chapter has been to demonstrate that the VEP can be used as an objective measure of visual function in infants and young children. It provides the clinician with a quantifiable index of visual impairment, and indeed may be useful in predicting a reduction of subjective visual acuity before it is found on clinical examination. There is no doubt that such abnormalities as strabismus, cataracts, ptosis, and corneal opacities can be detected on clinical examination without the aid of VEPs; however, the VEP may determine, particularly in preverbal children, whether and to what extent that abnormality has caused an impairment in acuity. The assumption is made in the case of a monocular reduction in acuity that if VEP amplitudes from the two eyes are not equal, visual acuity is not equal. This is a valid assumption since there is a correlation between reduced visual acuity and VEP amplitudes in older children with amblyopia who give reliable subjective acuities. In addition to the detection and evaluation of acuity loss in infants and children, the VEP offers a way of monitoring the efficacy of occlusion therapy and CAM therapy. Also the VEP can be used to monitor the effects of corneal and lens opacities on visual development.
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PMID:Pattern visual evoked potentials: their use in pediatric ophthalmology. 699 78

Traumatic craniofacial deformity should be reconstructed acutely when possible, though it may be done effectively secondarily if certain principles are followed. These principles involve extensive mobilization of the soft tissue for repositioning and reshaping, liberal use of onlay split rib grafts about the orbits, nose, and zygomas, and segmental repositioning of larger bone segments about the jaws and cranium. Simultaneous scar revisions, addition to deficient soft tissue bulk and nose, mouth, and canthal repositioning should be done. Upper eyelid ptosis, strabismus, and nasolacrimal obstruction corrections should be delayed for at least 6 months following major bony reconstructive procedures.
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PMID:Traumatic craniofacial deformity. Late treatment. 705 Dec 69

In a prospective collaborative study, congenital ptosis was repaired using lyophilized allogeneic fascia lata as the suspension material for frontalis sling procedures. Over 50 cases of unilateral and bilateral ptosis procedures were performed by pediatric ophthalmologists during the initial study period. No infections or evidence of tissue rejection were reported during a follow-up period of up to 24 months. Four failures, ascribed to slippage, were noted within the first several months and required regrafting. In an additional case, minimal slippage occurred, but resulted in satisfactory lid levels. All remaining cases achieved satisfactory cosmetic and functional results. Most collaborators found this form of preserved fascia lata to be superior to nylon polyfilament, cable-type suture. Clinical features of the patient population included a high incidence of strabismus (28%) and amblyopia (24%).
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PMID:Congenital ptosis. Results of treatment using lyophilized fascia lata for frontalis suspensions. 715 34

A nine-week-old Caucasian male presented with right ptosis and right exotropia due to a third cranial nerve palsy. Symmetrical macular lesions and a paramacular hyperpigmented lesion with overlying vitreous cells in the left eye were compatible with congenital toxoplasmosis. Computer tomography demonstrated calcifications in the periventricular and midbrain regions where the oculomotor nerve exits the brainstem. The diagnosis was confirmed by the toxoplasma indirect fluorescent antibody titer greater than 1:2048 for the infant and greater than 1:512 for the mother. Treatment was instituted with pyrimethamine, sulfadiazine and folinic acid. Neurologic sequelae included a right hemiparesis, infantile seizures, and generalized developmental delay. A Mueller's muscle resection (RUL) combined with 9-mm recession of the right lateral rectus and 7-mm resection of the right medial rectus muscles produced minimal ptosis and right exotropia one year later. the child now prefers to fix with the right eye and a vertical nystagmus is evident in the left eye. To our knowledge this is the first reported case of an infant with noncomitant strabismus due to congenital toxoplasma cranial nerve involvement. The finding of an acquired third cranial nerve palsy accompanied by progressive neurologic sequelae warrants consideration of congenital toxoplasmosis.
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PMID:Congenital toxoplasmosis associated with acquired oculomotor nerve (CN III) palsy. 717 24

A case of deletion of the short arm of chromosome 3 (46,XY,del(3)(p253) is described. The patient is a youth of 18 years in an institution for the mentally retarded. Phenotypically, he presents congenital heart disease, hypertelorism, ptosis, epicanthus, blepharophimosis, strabismus, nystagmus, synophrys, low-set ears, frequent infections, epilepsy (abnormal EEG and grand mal seizures), "rocker bottom" feet, flat occiput and muscular hypotonia. The parents are healthy and with normal karyotypes. A silent allele in the GPT system was found in the mother, the propositus and 4 of the 5 siblings.
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PMID:Partial deletion of the short arm of chromosome 3. 722 94


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