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At least 1,099 records · Page 61Linked to original sources
PubMed2000

Colobomatous microphthalmia, microcephaly with cerebellar hypoplasia: association or new syndrome?

We report on a 3.5-year-old girl with microcephaly, microphthalmia, coloboma of the iris, mild developmental delay, and other minor anomalies. Neuroimaging showed marked cerebellar and vermian hypoplasia. This condition has not been described previously and is discussed in the context of the "micro syndrome," together with other similar syndromes. Our case highlights the heterogeneity of the "microphthalmia plus brain malformations" group of patients.

Adult↗
PubMed2000

Lenz microphthalmia syndrome: three additional cases with rare associated anomalies.

Lenz microphthalmia syndrome is an extremely rare inherited disorder, characterized by unilateral or bilateral microphthalmia. In rare cases affected patients exhibit complete absence of eye or blepharoptosis resulting in visual impairment. Additional physical abnormalities are often associated with this disorder, orofacial, digital, skeletal and urogenital abnormalities. Here we present three cases of Lenz microphthalmia with additional manifestations: two brothers of first cousin mating, the elder one has bilateral congenital cataract which is a rare ophthalmological finding in this syndrome and a third case who presented to us because of ambiguous genitalia. She was 12 years old, and reared as a female. Chromosomal analysis showed 46,XY karyotype, and hormonal studies indicated 5-alpha reductase deficiency. This is the first report of the association of 5-alpha reductase deficiency with Lenz microphthalmia syndrome.

3-Oxo-5-alpha-Steroid 4-Dehydrogenase↗
PubMed2000

[Persistent hyperplastic primary vitreous syndrome in a girl with Aicardi syndrome].

Aicardi syndrome is characterized by infantile spasms, agenesis of the corpus callosum and chorioretinal lacunae. This disorder affects mostly females with early embryonic lethality in males. We present a case of persistent hyperplastic primary vitreous (PHPV) in association with Aicardi syndrome in a 2-year-old girl.

Abnormalities, Multiple↗
PubMed2000

Bilateral papillomacular retinal folds and posterior microphthalmus: new features of a recently established disease.

Clinical findings of a 2.5-year-old girl presenting with barely detectable horizontal nystagmus and high hypermetropia are described. Despite the normal appearing anterior segments, the child had posterior microphthalmus and bilateral papillomacular retinal folds, conforming to a recently described, rare congenital disease. The patient also had significant posterior pole excyclorotation and avascular zones at the extreme temporal periphery without ridge formation or neovascularization. These findings were not reported previously. Other remarkable features include mildly depressed photopic and scotopic electroretinogram amplitudes and a short axial length of the vitreous cavity compared to age-matched normals, measured by ultrasonography. The present case adds new elements to this relatively rare ocular developmental abnormality.

Child, Preschool↗
PubMed1997

[Color Doppler imaging of persistent heperplastic primary vitreous].

PURPOSE: To evaluate Color Doppler Imaging (CDI) in the value of Persistent Hyperplastic Primary Vitreous(PHPV). METHODS: 3 cases (4 eyes) of PHPV were reproted and were examinated by high resolution CDI, the blood flow pattern was evaluated in basic of two dimensional grayscale image. RESULTS: CDI shows a band vascular structure coursing through the band-shaped moderately echogenic structure in the central portion of vitreous chamber, with the apex located near the optic disk and the base extending toward the lens. Spectral display of the Doppler signal indicated arterial flow. CONCLUSION: Central vessel exhibiting arterial flow is compatible with a prominent persistent hyaloid vascular structure. This CDI imaging feature, in addition to microphthalmia and lack of calcification, is virtually pathogenomonic of PHPV and aids in enabling distinction between PHPV and simulating lesions.

Arteries↗
PubMedDate not supplied

[Potentialities of conservative and surgical treatment of patients with congenital microphthalmia and anophthalmia].

Congenital anophthalmia and microphthalmia were responsible for 1.7-1.8% cases of all cases treated at laboratory of plastic surgery and ocular prostheses. Clinical picture of the condition is described. The philosophy of rehabilitation of patients with congenital anophthalmia and microphthalmia is as follows: 1) no operations during the first years of life; 2) early staged fitting with prostheses; 3) surgical treatment in older age, when the resources of conservative extension of the cavity are exhausted. The authors emphasize that active conservative treatment should be preferred. Method for nonsurgical extension of the conjunctival cavity by staged insertion of prostheses is described. Positive and negative aspects of surgical treatments are discussed. The authors emphasize that surgical activity in early age is extremely harmful. Results of surgical treatment of 27 patients are presented. The patients were divided into 2 groups differing by the tasks of surgery: repair of consequences of previous operations (59.2% cases) and typical correction of the eye lids (40.8%). Clinical examples are offered.

Adolescent↗
PubMed1975

[Toxic action of morphocycline on pregnant rats].

Morphocycline was administered intravenously to rats of Wistar line in doses of 100, 50 and 20 mg/kg at various periods of pregnancy. It was found that a single administration of morphocycline in the above doses to the rats on the 9th day of their pregnancy resulted in abortus in some female rats. Death and resorption of the fetus were more frequent after the antibiotic use in doses of 20 and 50 mg/kg. Repeated administrations of morphocycline in doses of 20 mg/kg resulted in abortus and postimplantation death of the fetus most pronounced in the animal groups treated with the antibiotic during the periods of the 7th to the 10th and from the 11th to the 14th days of pregnancy. The teratogenic activity of morphocycline was slightly pronounced. It was observed in some fetus after both single and repeated administrations of the antibiotic.

Abnormalities, Drug-Induced↗
PubMed2001

Development of cataractous macrophthalmia in mice expressing an active MEK1 in the lens.

PURPOSE: To characterize the extracellular signal-regulated kinase (ERK) pathway in the lens and to try to understand how this pathway contributes to lens function and cataractogenesis. METHODS: The members of the ERK pathway in the lens were examined by Western blotting, immunohistochemical staining, and kinase assay. A gain-of-function approach was used to perturb the ERK pathway in the lenses of transgenic mice via expression of a constitutively active mutant of the mitogen-activated protein kinase kinase 1 (MEK1(E)), the direct upstream kinase of the ERK1 and ERK2 kinases, under the alphaA-crystallin promoter. RESULTS: The presence of an active ERK pathway was found in lens epithelial cells and in differentiating fibers. Transgenic mice that expressed MEK1(E) developed postnatal cataracts as well as macrophthalmia. Distinct morphologic alterations, such as lens enlargement, swelling fiber cells, enlarged extracellular space, and vacuole formation, were observed in the lenses of these transgenic mice. A significant increase in the glucose transporter 1 (GLUT1) level, as well as in the glucose level, was detected in the lens. CONCLUSIONS: The MAP kinase pathway is involved in the regulation of glucose metabolism and balance in the mouse lens. Moreover, the alteration of MAP kinase activity in the lens is sufficient to cause cataract formation with enlarged extracellular space and vacuoles in the differentiating fibers. This transgenic mouse may provide a useful model for understanding the mechanism(s) for some aspects of human cataracts.

Animals↗
PubMed2001

Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome.

Lenz microphthalmia syndrome is a rare X-linked recessive condition first described by Lenz in 1955 and comprises of anophthalmia, microcephaly, mental retardation, external ear, digital, cardiac, skeletal, and urogenital anomalies. We present three brothers (ages 15 years, 9 years, and 18 months) and a maternal uncle (age 27 years) with congenital anophthalmia, delayed motor development, hypotonia, and moderate to severe mental retardation. They also have abnormally modeled ears, high-arched palate, pectus excavatum, finger and toe syndactyly, clinodactyly, fetal pads, scoliosis, cardiac, and renal abnormalities. An obligate carrier had abnormally modeled ears and syndactyly of the 2nd to 3rd toes bilaterally. Linkage and haplotype analysis in this family indicates that the gene is located in a 17.65-cM region on chromosome region Xq27-Xq28.

Abnormalities, Multiple↗
PubMed2001

[Aicardi syndrome: case report].

We report a case of Aicardi syndrome in a female child with 2 month old, ocular abnormalities "chorioretinal lacunae", flexion in spasms, hipsarrhythmic "split brain", callosal agenesis referred to Service of Neuropediatric and Neurophysiology of Base Hospital of São José do Rio Preto, SP, Brazil.

Abnormalities, Multiple↗
PubMedDate not supplied

Cataract surgery with primary posterior chamber intraocular lens implantation in nanophthalmos.

A 56-year-old Asian woman with nanophthalmos and cataract in the right eye underwent extracapsular cataract extraction with primary posterior chamber intraocular lens implantation of +31.0 D. Intraoperatively, there was severe vitreous upthrust; however, there was no vitreous loss and the lens could be placed in the posterior chamber. The patient's postoperative course was uneventful except for a moderate degree of coagulum over the lens. Her best-corrected visual acuity was 20/80. The patient required YAG capsulotomy one year later. Her intraocular pressure was under control without any medication. With appropriate precautionary measures, primary posterior chamber intraocular lens implantation can be performed in nanophthalmic eyes with a favorable visual outcome.

Cataract↗