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Results for “MICROPHTHALMOS”

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At least 1,081 records · Page 60Linked to original sources
PubMed1976

[Growth of eye and orbit in chick embryo. IX. Developement of eye and skull origin in 3-9 day old embryos with experimental bilateral microphthalmia].

Chick embryos in which on the third day of incubation the lens of both eye primordia was removed, were sacrificed at the ages of 5,7 and 9 days and fixed in a 70 per cent alcohol solution. An analysis was made of the consequences of the absence of normal large eyes upon the structure and growth of the skull. Immediately after the operation no changes in the head mesenchyme could be observed, but during the next days, as growth goes on, abnormal proportions and dimensions develop in the anterior part of the skull. Generally, this part of the skull is depressed and shorter than normal; cartilages around the eye have a different position and smaller dimensions. A perfect symmetry is only rarely maintained. There seems to be a very labile balance in the skull, as may be deduced from the presence of a buckled interorbital septum and the deviation of the upper beak.

Animals↗
PubMed1976

Aplasia of the optic nerve.

A case of unilateral true aplasia of the optic nerve in an otherwise normal and healthy child is presented. Twenty-eight previously reported cases of aplasia have been reviewed and classified according to criteria which we have presented. Only six of these cases, including the present case, represent true aplasia, manifested by total blindness and complete absence of the optic disc and retinal vessels.

Blindness↗
PubMed1999

Syndrome of microcephaly, microphthalmia, cataracts, and intracranial calcification.

We present two sisters with microcephaly, developmental delay, marked microphthalmia, congenital cataracts, cerebral and cerebellar hypoplasia, and intracranial calcification. No evidence of intrauterine infection was found. There have been previous reports of microcephaly, intracranial calcification, and an intrauterine infection-like autosomal recessive condition, but the sibs in this report appear to represent a more severe form of such a condition or a previously undescribed entity.

Brain↗
PubMed1999

[Histochemical studies of glycosaminoglycans in the developing eyelids of experimental microphthalmic (Cts) mice].

PURPOSE: The Cts mouse is a mutant strain which induces congenital cataract and small eyes in homozygotes. The process of eyelid development in Cts mice was examined histochemically. MATERIALS AND METHODS: Prenatal (from day 14 of gestation) and postnatal (to day 14) animals of unaffected and homozygous mice were examined. Sensitized high iron diamine staining was done after chondroitinase B/testicular hyaluronidase double digestion, and sensitized low iron diamine staining was done after Streptomyces hyaluronidase digestion. RESULTS: The main chondroitin sulfate isomer in the dermis of the eyelid changed from chondroitin sulfate A/C to chondroitin sulfate B at birth in the unaffected mice. In the homozygotes, the same change took place 4 days after birth. In the dermis of the eyelid, hyaluronic acid was first detected on day 14 of gestation and gradually increased until birth in both unaffected and homozygous mice. There was slightly more hyaluronic acid in homozygous mice until 4 days after birth. CONCLUSION: The present study showed that the maturation of glycosaminoglycan molecular species in the eyelid was retarded in Cts homozygotes.

Animals↗
PubMed1999

Pulmonary agenesis, microphthalmia, and diaphragmatic defect (PMD): new syndrome or association?

We present the prenatal diagnosis of a 22-week-gestation fetus with unilateral pulmonary agenesis, diaphragmatic hernia, microphthalmia, pulmonary vessel agenesis, and intrauterine growth retardation. The "association" of pulmonary agenesis, diaphragmatic defect, and microphthalmia was described previously in two patients but the resemblance was not noted by the authors. While each case differs slightly in some of the associated anomalies, it is evident that the mainstay of diagnosis is similar to the case presented here and that this represents a new syndrome or association.

Abnormalities, Multiple↗
PubMed1999

An interstitial deletion of 6p24-p25 proximal to the FKHL7 locus and including AP-2alpha that affects anterior eye chamber development.

The FKHL7 gene has been implicated in the pathogenesis of glaucoma/autosomal dominant iridogoniodysgenesis (IGDA) (IRID1). This has been supported by mutations in some glaucoma and IGDA patients and the development of anterior eye chamber anomalies in patients with 6p deletions affecting the 6p25 region. We report a case with anterior eye chamber anomalies and an interstitial deletion of 6p24-p25 that does not include the FKHL7 gene, suggesting the possible additional involvement of another locus, within 6p24-6p25, in anterior eye chamber development. A candidate gene is AP-2alpha, which is contained within the deleted segment and plays a role in anterior eye chamber development.

Chromosome Deletion↗
PubMed1999

Persistent hyperplastic primary vitreous with myopia: a case study.

BACKGROUND: Persistent hyperplastic primary vitreous (PHPV) is a congenital disorder that manifests a range of ocular anomalies, including leukocoria, microphthalmia, cataract, and a retrolental fibrovascular membrane. In general, the prognosis for visual acuity with PHPV has been poor. A recent report on six patients who have myopia associated with PHPV showed that these patients were not microphthalmic, did not manifest leukocoria, and showed a mean visual acuity at final followup of 20/160. CASE REPORT: The case of a 3-year-old boy with myopic PHPV of the left eye is presented. Full-time wear of the cycloplegic refraction, combined with patching of the non-amblyopic eye, resulted in an improvement in visual acuity. RESULTS: PHPV with myopia may constitute a distinct subtype of PHPV. Patients with myopic PHPV tend to seek treatment later than patients with anterior or posterior PHPV as a result of the lack of microphthalmia and leukocoria. These individuals do not show the long-term complications, such as secondary glaucoma and intraocular hemorrhages, associated with PHPV. CONCLUSION: The acuity improvement in this case of myopic PHPV suggests that a more conservative approach to its surgical management may be appropriate while pursuing refractive correction and amblyopia therapy to attain the best acuity possible.

Child, Preschool↗
PubMed1999

Microphthalmic mice display a B cell deficiency similar to that seen for mast and NK cells.

The microphthalmic mouse (mi) possesses a 3-bp deletion of the Mi gene that alters the DNA binding site of the transcription factor gene product. This animal has diminished numbers of NK and mast cells (MC) and is osteopetrotic due to a lack of the normal complement of functional osteoclasts. The reduction of MC has been proposed to be due to the lack of adequate c-Kit expression that is required for MC differentiation. However, data from other labs has questioned this interpretation. In this report, we present data suggesting bone marrow-derived deficiencies of the mi mouse are not due to a lack of c-Kit expression and function, but instead due to an inhospitable environment within the bone marrow itself. Specifically, we have found that such animals also lack virtually all B cell precursors within the marrow and rely upon other lymphatic sites, such as the spleen, for B cell development and maturation. Although the animal has depressed numbers of NK cells, B cells, and MC, it still possesses a normal thymus and peripheral T cells. Therefore, the block in cellular differentiation must be within the marrow environment, which is essential for maturing B cells, NK cells, and MC but not T cells.

Animals↗
PubMed1999

The tyrosinase related protein-1 (Tyrp1) promoter in transgenic experiments: targeted expression to the retinal pigment epithelium.

Transgenic experiments targeting gene expression to the retinal pigment epithelium (RPE) require use of a pigment cell-specific promoter. We have chosen 1.4 kb and 4 kb from the promoter of the tyrosinase-related protein 1 gene (Tyrp1) for RPE-specific expression, since Tyrp1 mRNA and protein are detected already at midgestation in this epithelial layer. In eyes of transgenic embryos, expression of the Tyrp1-lacZ fusion construct led to strong and specific expression of beta-galactosidase in the RPE from day E10.5 onwards. The promoter thus proved useful to target expression of two different oncogenes to the RPE, a constitutively active tyrosine kinase receptor (Rfp/Ret) and SV40 T antigen (Tag). Tyrp1-Rfp/Ret transgenic mice developed microphthalmia, primarily induced by changes in the developing RPE. In addition, Tyrp1-Rfp/Ret expression induced proliferation of RPE cells leading to benign RPE tumors in the adult. Tyrp1-Tag transgenic mice developed malignant eye tumors of RPE origin, which invaded the optic nerve and led to metastasis into lymph nodes and spleen.

Animals↗
PubMed2000

Dorsal retinal pigment epithelium differentiates as neural retina in the microphthalmia (mi/mi) mouse.

PURPOSE: Microphthalmia, a bHLH-zip transcription factor associated with the onset and maintenance of pigmentation, identifies the retinal pigment epithelial (RPE) compartment during optic vesicle and optic cup development. To determine a role for microphthalmia (mi) during eye development, the effects of an mi loss of function mutation on RPE and neural retinal were investigated in the mi/mi mouse. METHODS: A series of embryonic and postnatal mi/mi and wild-type eyes were sectioned and labeled with neural retina- and RPE cell type-specific antibodies. Photoreceptor loss was quantified by counting the number of photoreceptor nuclei spanning the outer nuclear layer throughout postnatal retinal development. RESULTS: Early neural retinal differentiation is not affected in the mi/mi mouse. The mi/mi ventral retinal pigment epithelial layer begins to develop normally, but does not pigment or attain a differentiated cuboidal morphology. The dorsal region of mi/mi retinal pigment epithelium expands and forms an ectopic retina, which develops all major retinal cell types along a similar time course as the wild type. After birth, mi/mi photoreceptors begin to form rosettes, outer segments fail to elongate, and over an extended time period, the retina degenerates. CONCLUSIONS: Together these results suggest that early retinal development can proceed normally in the mi/mi mutant, but later retinal histogenesis is dependent on the presence of a differentiated retinal pigment epithelium. Most importantly, loss of mi function permits a change in cell fate from RPE to retina in the dorsal eye.

Animals↗
PubMedDate not supplied

Scimitar syndrome with absence of the right pulmonary artery: a case report.

We report a two-year-old female child with scimitar syndrome associated with absent pulmonary artery but with normal pulmonary artery pressure although several collaterals originated from the abdominal aorta to the right lung. To our knowledge, this is the fifth case with an absent pulmonary artery. Our case also had microphthalmia, an association not previously described in scimitar syndrome.

Abnormalities, Multiple↗