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The early management of baby with Hallermann-Steriff-Francois Syndrome.
The importance of early management of sight in a baby with Hallermann-Streiff-Francois syndrome is described. Surgery for bilateral cataract was performed. Special postcataract contact lenses were fitted.
Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation--a syndrome.
A syndrome consisting of colobomatous microphthalmia, heart disease, abnormalities of the external ear with associated hearing loss, and mental retardation is described. Nine children and one adult were evaluated. There is not race or sex predilection. The syndrome can be heritable, as shown by a mother and daughter who were among the patients. In addition to the four major components enumerated, multiple other anomalies may be associated. In some cases, the syndrome may occur incompletely. Whenever two or more of the four components are recognized, the other systems usually affected should be investigated.
A family with X-chromosomal recessive congenital cataract, microphthalmia, a peculiar form of the ear and dental anomalies.
An investigation has been made in a family with X-chromosomal recessive congenital cataract, microphthalmia, a peculiar form of the ear, and dental anomalies. The carrier females show only slight symptoms. They all have lens opacities, and most of them show more symptoms. For genetic counseling it is of utmost importance to examine all family members and to re-examine the females from time to time for early lens opacificaiton, which is the most constant finding. In literature families have been described with similar clinical symptoms only a few times. We have been trying to demonstrate a linkage with the Xga locus, which might enable us to locate the mutant gene on the X-chromosome and to exclude with more certainty the carrier status. The results of this blood group specification were not informative. In future we hope to be able to demonstrate a linkage with other markers located on the X-chromosome.
Hydrocephalus combined with congenital cataract and microphthalmia.
We describe a case of bilateral microphthalmia with bilateral congenital cataracts associated with hydrocephalus in a 9-month-old girl with consanguineous parents. The differential diagnosis included: (1) congenital rubella syndrome; (2) congenital toxoplasmosis; (3) chromosome alterations; and (4) metabolic disease. However, negative clinical, laboratory, and instrumental investigations excluded all of these hypotheses. We stress the usefulness of echography in establishing whether or not infection has occurred during intrauterine life.
Cytogenetic analysis of a case of "13q- syndrome" (46,XX,del 13) using banding techniques.
Many chromosomal syndromes include ocular anomalies. In the del(13q) syndrome retinoblastoma, coloboma, and microphthalmia may be present. In the del(13q) case we report, the findings include colobomas and apparent microphthalmia, although the retinoblastoma sometimes associated with this condition was not observed. More precise descriptions of the del(13q) syndrome relative to the region deleted using improved banding techniques may: (1) increase the likelihood of accurate diagnosis, (2) enhance clinical predictions, and (3) possibly further clarify the genetic control over the development of the ocular system.
Prognosis for education of children with bilateral congenital microphthalmus.
Retrospective study of 34 patients with bilateral microphthalmus and follow-up of 30 of these revealed mental retardation of seven, an incidence equal to or less than reported by others. Of greater import is the number of highly educated or extremely good students, a finding not previously reported. Familial incidence of microphthalmus was low (4 probable but unproved cases). It seems that in counseling parents of children with microphthalmus we should be optimistic about the future achievement of these children. Support should be provided during their learning years, and we must promote better acceptance by the community, particularly in regard to employment.
Ocular abnormalities in terminal deletion of the long arm of chromosome seven.
Patients with distal deletions of the long arm of chromosome 7q have been reported with a variety of non-specific findings. Ocular findings have been limited to hypertelorism, palpebral fissure abnormalities, strabismus and speckled irides and no intraocular pathology with the exception of one case with unilateral optic nerve coloboma. We report a patient with terminal deletion of the long arm of chromosome 7 with marked ocular abnormalities including severe microphthalmus and large retinal colobomas.
Case report: two eyes in one patient representing the spectrum of Peter's anomaly.
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Chorioretinal coloboma with hypoplasia of the inferior rectus muscle in a microphthalmic eye.
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Aplasia of the optic chiasm and tracts with unifocal polymicrogyria in an otherwise healthy infant.
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Ocular and systemic findings associated with optic disc colobomas.
PURPOSE: To determine the ocular and systemic anomalies associated with optic disc colobomas. PATIENTS AND METHODS: The records of patients with a diagnosis of isolated optic disc coloboma and chorioretinal coloboma with optic disc involvement were retrospectively reviewed. RESULTS: Fifteen patients were included in the study. Of the 30 eyes, the optic disc and choroid were involved in 18, an isolated disc coloboma was present in 5, a normal optic disc was present in 4, and the optic disc could not be identified because of extreme microphthalmia in 1. Of the optic discs outside the fundus colobomas, 1 had an abnormal shape and 1 had optic atrophy and hypoplasia. Eight patients had bilateral but asymmetric involvement of the optic nerve with the coloboma. Fourteen eyes of 9 patients were microphthalmic. Nine eyes of 6 patients had microcornea. One patient had a nonrhegmatogenous retinal detachment at the time of diagnosis. One eye had a retrobulbar cyst with microphthalmia. Eight (53%) of the patients had sensory strabismus. Two patients had unilateral cortical lens opacities. Associated systemic findings were present in 6 (40%) of the 15 patients. CONCLUSIONS: Optic disc colobomas have a wide variety of presentations. Poor visual acuity was observed mostly in eyes with macular involvement and microphthalmia.
Ocular defects in congenital rubella.
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Developmental ocular disease of raptors.
Sixteen raptors, including one eagle, two falcons, five hawks and eight owls, were found to have developmental ocular lesions. The most common lesion was microphthalmia. Other findings included cataract, microphakia, retinal dysplasia, malformation of the ciliary body, choroid and pecten, and lentoid formation. Specific causes for these lesions could not be determined. It is hypothesized that developmental ocular disease probably is more common than available reports indicate.
Pathology of ocular lesions in free-living moose (Alces alces) from Saskatchewan.
Clinical signs of impaired vision or neurological disease occurred in seven of 74 free-living moose (Alces alces) from Saskatchewan, Canada, submitted for necropsy between 1969 and 1994. Several lesions were found in each eye, including retinal degeneration (seven cases), cataract (six cases), lymphocytic-plasmacytic anterior uveitis (six cases), corneal scars (six cases), keratitis (four cases), and microphthalmia (one case), but their cause was not determined. Moraxella bovis was isolated from the cornea of one moose. Lesions in the brain and spinal cord were mild or absent.
Color-flow Doppler sonography of persistent hyperplastic primary vitreous.
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Aberrant morphology of Müller glial cells in retinas of a microphthalmic mouse strain.
A microphthalmic mouse strain was used to study retinal glial cells during postnatal development of the retinal malformations. Glia was demonstrated with immunohistology using antibodies against vimentin or glial fibrillary acidic protein. To identify proliferating cells the bromodeoxyuridine technique was applied. Our results support the hypothesis that precursors of Müller cells may be involved in early stages of retinal malformations.
[Isoform multiplicity of microphthalmia-associated transcription factor].
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