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Results for “Microphthalmos”

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At least 37 records · Page 2Linked to original sources

PubMed1978

Multiple ocular anomalies associated with maternal LSD ingestion.

Severe ocular malformations, including microphthalmos, intraocular cartilage, cataract, persistent hyperplastic primary vitreous, and retinal dysplasia, occurred in a premature baby girl. The mother had ingested LSD during the first trimester of pregnancy. To our knowledge, this is the third case reported of ocular teratogenesis associated with maternal LSD ingestion. Further cases must be documented to establish an actual cause and effect relationship between the drug and the induced malformations.

Abnormalities, Drug-Induced↗

PubMed1976

[Enzymatic studies in lenses of different breeds of mice (author's transl)].

Leucinaminopeptidase (LAP), lactatedehydrogenase (LDH) and glucose-6-phosphatdehydrogenase (GPDH) were analysed in the lenses of two different breeds of mice. Compared to the lenses of a control stock (Agnes Blum, Jena), in the healthy seeming, heterozygous mice the same activities of LAP, LDH, and GPDH were found. But in the breed with evident microphthalmos and cataract LDH was increased. Possible connections are discused.

Animals↗

PubMed1977

Partial deletion of the long arm of chromosome no. 13.

A case of partial deletion of chromosome No. 13 identified by G banding as 46, XX, del(13)(q21--ater) is reported in an infant with severe microcephaly, microphthalmos, talipes calcaneovalus, and a single crease on each of the little fingers. A review of other cases of chromosome No. 13 deletion that were identified by banding is presented and the correlation between clinical features and deletion of specific bands is discusses.

Abnormalities, Multiple↗

PubMed1976

Familial nanophthalmos.

Four members of one sibship had microphthalmos with fundi having an irregular "rippled* appearance with alternating light and dark red coloration. Fluorescein angiography revealed patchy choriocapillaris perfusion with unusually rapid diffusion into the retina. Genealogic and geographic data strongly suggest autosomal-recessive inheritance. Only one patient developed glaucoma. The unique combination of abnormalities in this family suggests that a new recessive mutation may be responsible.

Aged↗

PubMed1978

Congenital varicella cataract.

A 16-month-old boy with 1:16 and 1:8 serum titers to varicella zoster fluorescent membrane antigen had had unilateral cataract and microphthalmos since birth. The mother had suffered varicella during the fourth month of pregnancy. Cataract aspiration in the child was uncomplicated.

Antibodies, Viral↗

PubMedDate not supplied

Peters' anomaly: dominant inheritance in one pedigree and dextrocardia in another.

Two case reports are described to illustrate the unusual occurrence of dominant inheritance of Peters' anomaly and the concomitant occurrence of Peters' anomaly with colobomatous microphthalmos and dextrocardia. Studies of additional families are necessary to determine conclusively the pathogenesis, genetic mode of inheritance, ocular and systemic associated malformations, and proper management of this complex entity.

Abnormalities, Multiple↗

PubMedDate not supplied

Retinal disinsertion syndrome: report of a case.

A case of retinal disinsertion syndrome in a 31-year-old mentally retarded patient was reported. Associated anomalies included subluxation of the lens, microphthalmos and bilateral keratoconus. Total retinal detachment and subluxation of the lens in a blind microphthalmic eye of a young infant should raise the possibility of retinal disinsertion syndrome.

Adolescent↗

PubMed1976

The use of contact B mode ultrasound in pediatric ophthalmology.

It has been shown that an ultrasound system such as the Bronson-Turner Contact B Mode can be added, fruitfully, to the armamentarium of the individual pediatric ophthalmologist. It can be used quickly and precisely with an ophthalmological training and without patient discomfort or anesthesia no matter what the age. Valuable anterior segment information can be readily gained without a waterbath. Examples are shown of children with opaque media who were found to have congenital cataracts and congenital aphakia, microphthalmos, PHPV, retinal anomalies and ectatic coloboma.

Adult↗

PubMed1975

[Aicardi-syndrome (author's transl)].

The main features of Aicardi's syndrome are infantile spasms, defects of the corpus callosum, chorioretinopathy, mental subnormality, characteristic EEG changes, vertebral anomalies, microphthalmos and colobomata. The disease affects only the female sex. 2 cases are described from our own experience.

Agenesis of Corpus Callosum↗

PubMed1975

Developmental anomalies in the organogenesis of the eyeball. Bilateral diophthalmos.

A case is described of a 4-month-old boy presenting with a bilateral microphthalmos with cyst. Detailed examination of one eye and cyst suggested that the cyst was atypical and represented an attempt at the formation of an extra eye on the same optic stalk. Such a developmental anomaly has not been described before and the term 'diophthalmos' is proposed as an appropriate name.

Eye↗

PubMed1977

Ocular pathology of the congenital varicella syndrome.

Congenital anomalies are rare in infancy following maternal varicella during pregnancy. Abnormalities do occur, however, and form a specific pattern including cicatrical skin lesions, atrophic limb, low birth weight, and chorioretinal scarring. We saw an infant who had immunologic evidence of varicella-zoster virus contact in utero, microphthalmos of one eye, and chorioretinal scarring of the fellow eye. Ophthalmologists confronted with such ocular anomalies in children should inquire about the possibility of maternal varicella during pregnancy. Conversely, infants born of mothers known to have had varicella during pregnancy should be examined for fundus abnormalities.

Chickenpox↗

PubMed1976

Bilateral renal agenesis with multiple congenital ocular anomalies.

A 920-g male infant born with features of Potter's syndrome had multiple ocular anomalies. Ocular abnormalities included absence of keratocytes in the inner central corneal stroma, cataract with retention of cell nuclei in the nucleus of the lens, hypoplasia of the ganglion cell and nerve fiber layers of the retina, and absence of nerve bundles in the optic nerve. Other ocular findings including microphthalmos, fetal chamber angle, persistent pupillary membrane , retinal avascularity, and prominent Bergmeister's papilla may have been related to the prematurity of the child.

Abnormalities, Multiple↗

PubMed1976

Peters' anomaly with the fetal transfusion syndrome.

Of identical twins with the fetal transfusion syndrome, the second twin who was anemic and hypoxemic from early gestation had Peters' anomaly by histologic examination of the host cornea excised during corneal transplantation at 7 months of age. The absence of a normally positioned lens with the incorporation of lens epithelium, capsule, and cortex within the posterior corneal stroma suggested a developmental disturbance in the separation of the lens from the cornea. The severe lenticular disturbance, microphthalmos, and fetal growth retardation in this case reflected early anemia and the resultant hypoxemia. To our knowledge, this is the first time that the fetal transfusion syndrome and Peters' anomaly have been associated.

Corneal Diseases↗

PubMed1977

Trisomy 9 syndrome.

An infant is described with multiple congenital anomalies associated with mosaic trisomy 9. Review of the three previously reported cases of trisomy 9 shows that these patients have several common features which make trisomy 9 a clinically distinct syndrome. The frequently encountered findings are: upward-slanted eyes, small palpebral fissures, enophthalmos or microphthalmos, broad base and prominent tip of the nose, microcephaly, micrognathia, low-set malformed ears, high-arched palate, congenital heart disease, skeletal and genito-urinary anomalies, abnormal palmar creases, failure to thrive, hypotonia and retardation.

Abnormalities, Multiple↗

PubMed1976

Causes of blindness among students in blind school institutions in a developing country.

Out of 270 students in 17 blind school institutions in Malawi 73 per cent were blind before the age of three. The most common cause for the blindness was ocular infection (75-2 per cent). Meales, as a single cause, was responsible for 43-7 per cent of the cases and smallpox for 5-2 per cent. Bacterial infections were incriminated in 26-3 per cent of the cases. Most of these had received traditional medicine during the acute phase of the disease. Hereditary factors as causes of blindness were found in 7-8 per cent of the cases. These included congenital cataracts (2-6 per cent), optic atorphy of unknown origin (3-0 per cent), microphthalmos (1-5 per cent), and macular degeneration (0-7 per cent). Careful ophthalmological examination showed that in 37 cases an intervention could be attempted in order to improve the vision. In the 11 most favourable cases this was attempted, with the result that nine cases gained a useful vision of 4/60 to 6/18 in the better eye.

Adolescent↗

PubMed1977

Histiocytoid cardiomyopathy of infancy: an unexplained myofibre degeneration.

An unusual multifocal degeneration of the myofibres of all chambers and the conducting system of the heart was found in a 4-month-old female in whom ventricular pre-excitation (Wolff-Parkinson-White syndrome) had been demonstrated. There was a complex malformation of the brain with hydrocephalus and bilateral corneal opacities and microphthalmos. The affected myofibres had a swollen vacuolated or granular cytoplasm and rounded nuclei giving a histiocytoid appearance. Disruption of myofibrils and gross dilation and disorganization of mitochondria were the major fine structural features. Reports of similar lesions in 8 other young female children are reviewed. 'Histiocytoid cardiomyopathy' is the term preferred over others which refer to an increased lipid content. The aetiology is unknown.

Autopsy↗

PubMedDate not supplied

Congenital hereditary bilateral nonattachment of retina: a sibship of two males.

Two brothers, the only two children of nonconsanguineous parents, have no perception of light, bilateral microphthalmos, and degenerative corneal opacities that just allow observation of shallow anterior chambers and cataracts. The right eye of the older was removed at the age of 6 weeks: "congenital retinal detachment" was found. The birth of a subsequent affected son suggests that recessive genes are responsible. An X-linked gene is calculated to be more likely than autosomal recessive genes. These two males may suffer from a form of Norrie's disease without mental deficiency, however, they may be examples of the severest form of "falciform retinal folds" (autosomal recessive) or they may represent the same end-result from a different inherited pathological process. After the birth of the first affected child, the parents had been reassured that this undiagnosed, and at that time unknown condition, would not affect future children. The tragedy of a second affected child followed. We suggest that recessive genes (autosomal or X-linked) be specifically considered--with literature search--in any sporadic case of a bilateral symmetrical condition of the eyes not hitherto well known, especially if congenital, and in the absence of consanguinity of parents affected males in previous maternal generations. The possibility of a dominant mutation when a single case occurs in a sibship should also be considered.

Genes, Recessive↗

PubMed1976

[A short observation on the cause of myopia (author's transl)].

The increased excretion of acid mucopolysaccharides in the urine of patients with advanced myopia is indeed relevant for understanding the chemical processes in the sclera during this period, but it does not say anything concerning the genesis of myopia as such. This is due more to an infiltrative malformation of the eyeball and the optic nerve. The behaviour of the connective tissue can also be due to infiltration, or contrariwise induced from parenchyma at the appropriate time. Hence therapeutic possibilities can hardly be deduced from the chemistry of the sclera. Abnormally small corneas in people with high myopia point to a genetic connection between such eyes and "true" microphthalmos with orbital cyst.

Humans↗