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Results for “MICROPHTHALMOS”

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At least 811 records · Page 45Linked to original sources
PubMed2005

[The autologous ipsilateral rotating penetrating keratoplasty: an early surgical procedure to prevent deep irreversible amblyopia in Peters anomaly].

PURPOSE: It is a challenge to prevent irreversible amblyopia in infants suffering from Peters anomaly. In some cases of centrally located corneal opacifications an optical sector iridectomy can not lead to a clear optical axis. The homologous penetrating keratoplasty as early surgical procedure has shown an extremely poor outcome with a high risk of irreversible graft failure. We report on the autologous ipsilateral rotating penetrating keratoplasty in an eight-week-old infant suffering from Peters anomaly. PATIENTS: An autologous ipsilateral rotating penetrating keratoplasty was performed in an eight-week-old infant suffering from Peters anomaly to prevent irreversible amblyopia. RESULTS: After a follow-up time of 8 months we saw a clear graft within the optical axis without any complications in wound healing. We removed the single sutures two months after keratoplasty. Postoperative astigmatism could be corrected first by fitting a special nursery contact lens and after reduction of astigmatism because of suture removal we fitted special nursery glasses. The intraocular pressure remained within the normal range during the follow-up period. CONCLUSION: The autologous ipsilateral rotating penetrating keratoplasty should be considered superior to homologous keratoplasty in infants with Peters anomaly if sector iridectomy is not advisable because of a central corneal opacification. Resulting high refractive errors can be successfully corrected by special contact lens fitting or by nursery glasses.

Amblyopia↗
PubMed1998

[Cataract surgery in nanophthalmic eyes with an axial length of less than 20.5 mm].

BACKGROUND: Aim of this study was to analyze the results of cataract surgery in nanophthalmic eyes with axial length of less than 20.5 mm. PATIENTS AND METHODS: From 1991 to 1996 extracapsular cataract extraction with posterior chamber lens implantation was performed in 20 eyes of 19 patients (mean age 70.2 +/- 12.7 years, 4 male, 16 female) with axial length of less than 20.5 mm. Mean preoperative visual acuity was 0.16 +/- 0.15, refractive error +5.1 +/- 3.8 dpt and intraocular pressure 18.7 +/- 10.3 mm Hg. The mean follow-up was 24.4 months. Patient data were collected prospectively with standardized "Erlanger Augenblätter" and the computer-aided automatized operation record system "OPERA". These data together with the biometrical data were analized in a retrolective manner. RESULTS: Preoperatively 6 of 20 eyes had angle closure situation, 7 of 20 eyes had undergone intraocular surgery previously (5 x iridotomy, 1 x surgical iridectomy, 1 x filtration procedure). Pseudoexfoliation syndrome was present in 3 eyes. The posterior chamber lens (mean refractive power 31.7 +/- 3.0 dpt, optic diameter 6.5 and 7.0 mm) was positioned 18 x intracapsular, 2 x into the sulcus and 1 x by scleral fixation due to capsular rupture without vitreous loss. In 16 of 20 eyes iris surgery was performed additionally, in one eye an anterior sclerotomy was necessary. Intraoperatively "vis a tergo" occurred in 10 eyes and anterior chamber hemorrhage in one eye. Visual acuity improved in 16 of 20 eyes. The mean visual acuity was 0.3 +/- 0.2. At the end of follow-up 13 eyes had an improvement of visual acuity. Mean intraocular pressure was 16.5 +/- 3.3 mm Hg, refractive error was +0.47 +/- 2.9 dpt and differed by -0.49 +/- 1.8 dpt from the preoperatively calculated refraction. Postoperatively angle closure glaucoma developed in one eye, a ciliopseudophakic angle closure glaucoma and recurrent iris bombata in one eye. Reoperations included cyclokryokoagulation in two eyes, pars plana vitrectomy in one eye and repeated Nd-YAG iridotomies in one eye. CONCLUSION: Regarding the special anatomic situation, the surgical procedure has to be planned individually, including the determination of sclera thickness, corneal diameter and lens volume/eye volume ratio.

Aged↗
PubMed1994

[Optical improvement of deforming facial asymmetry with eyeglasses].

BACKGROUND: The appearance of cosmetic deformities of the orbit can be improved by eye glasses. The optical methods can improve the final outcome after orbital or facial reconstructive surgery. These methods are not widely known among ophthalmologists and plastic and reconstructive surgeons. PATIENTS: Four typical patients are presented. Two patients had vertical displacement of one globe, one patient had microphthalmus and one patient buphthalmus. RESULTS: The appearance of the cosmetic deformities improved by finding eye glasses with prismatic, hyperopic or myopic glasses. CONCLUSION: Patients with vertical displacement of one globe, microphthalmus or enophthalmus, and buphthalmus may benefit if proper eye glasses are fitted in front of an amblyopic or blind eye.

Adolescent↗
PubMed1986

Surgical treatment of congenital fronto-orbitomalar asymmetries.

Congenital fronto-orbital asymmetries can be of various origin. Correction of these malformations, whether due to maldevelopment of the foetus or to a congenital tumour, generally require a combined intracranial and extracranial approach. In recent years, a working group of plastic surgeons and neurosurgeons in the French-speaking part of Switzerland have been particularly interested in these problems. Some of their results are presented here.

Bone Transplantation↗
PubMed1992

[Congenital facial hemiatrophy. Report of two pediatric cases].

In facial hemiatrophy two different types are known: the progressive acquired type, which is relatively more common, and the rare congenital non progressive form. Two children--both with congenital facial hemiatrophy--are presented, both showed a (horizontally and vertically) smaller lid fissure and antimongoloid configuration of the lid. In addition in one case we could observe: small corneal diameter, staphyloma posticum, paving stone degeneration of the retina, convergent strabismus, and vertical deviation, in the other case: ptosis, major astigmatism, and latent divergent strabismus.

Child↗
PubMed1984

[Meyer-Schwickerath syndrome with microphthalmia].

This study describes 102 members of a family (5 generations), of whom 42 were found to have Meyer-Schwickerath ODD syndrome with microphthalmia. In older members of the family the condition was complicated by glaucoma, and in younger ones by strabismus.

Adolescent↗
PubMed1999

Aicardi syndrome associated with palatal hemangioma.

An 1-day-old female newborn who had typical clinical features of Aicardi syndrome, such as agenesis of the corpus callosum, ocular abnormalities and infantile spasm associated with a palatal hemangioma is reported. The intraoral mass, which occluded incompletely the oropharynx and right side of the nasopharynx, was partially excised under general anesthesia. This is the first reported patient with Aicardi syndrome with palatal hemangioma, according to the med-line search.

Abnormalities, Multiple↗
PubMed2000

Amblyopia?

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Amblyopia↗
PubMed1991

The c-fms gene complements the mitogenic defect in mast cells derived from mutant W mice but not mi (microphthalmia) mice.

Mutations at three loci in the mouse--W, Steel Sl), and microphthalmia (mi)--can lead to a deficiency in melanocytes and mast cells. As well, W and Sl mutants can be anemic and sterile, whereas mi mice are osteopetrotic due to a monocyte/macrophage defect. Recent data have shown that the c-kit receptor tyrosine kinase is the gene product of the W locus, whereas Sl encodes the ligand for this growth factor receptor. We show here that ectopic expression of c-fms, a gene that encodes a macrophage growth factor receptor that is closely related to the c-kit receptor, complements mutations at the W locus in an in vitro mast cell/fibroblast coculture system but is unable to reverse the inability of mi/mi mast cells to survive under these conditions. Furthermore, mast cells expressing the c-fms receptor survive on a monolayer of fibroblasts homozygous for the Sl mutation. These results suggest that ligand binding to the c-kit or c-fms receptor activates identical or overlapping signal transduction pathways. Furthermore, they suggest that mi encodes a protein necessary for transducing signals mediated by way of either the c-kit or c-fms receptor.

Animals↗
PubMed1995

An apoptotic defect in lens differentiation caused by human p53 is rescued by a mutant allele.

If deprived of wild-type p53 function, the body loses a guardian that protects against cancer. Restoration of p53 function has, therefore, been proposed as a means of counteracting oncogenesis. This concept of therapy requires prior knowledge with regard to proper balance of p53 function in a given target tissue. We have addressed this problem by targeting expression of the wild-type human p53 gene to the lens, a tissue entirely composed of epithelial cells that differentiate into elongated fiber cells. Transgenic mice expressing wild-type human p53 develop microphthalmia as a result of a defect in fiber formation that sets in shortly after birth. We see apoptotic cells that fail to undergo proper differentiation. In an effort to directly link the observed lens phenotype to the activity of the wild-type human p53 transgene, we also generated mice expressing a mutant human p53 allele that lacks wild-type function. A normal lens phenotype is restored in double transgenic animals that carry both wild-type and mutant human p53 alleles. Our study highlights the difficulties that can arise if p53 levels are improperly balanced in a differentiating tissue.

Aging↗
PubMed1997

Functional analysis of microphthalmia-associated transcription factor in pigment cell-specific transcription of the human tyrosinase family genes.

Tyrosinase, tyrosinase-related protein-1 (TRP-1), and TRP-2 are the enzymes involved in melanin biosynthesis and are preferentially expressed in pigment cells. Their human gene promoters share the 11-base pair M box containing a CATGTG motif, which was shown here to be bound in vitro by microphthalmia-associated transcription factor (MITF). Transient cotransfection analysis showed that MITF overexpression increased the expression of a reporter gene under the control of the human tyrosinase or TRP-1 gene promoter but not the TRP-2 promoter. The promoter activation caused by MITF is dependent on each CATGTG motif of the distal enhancer element, the M box, and the initiator E box of the tyrosinase gene and the TRP-1 M box. Furthermore, a truncated MITF lacking the carboxyl-terminal 125 amino acid residues transactivated the tyrosinase promoter less efficiently than did MITF, suggesting that MITF's carboxyl terminus contains a transcriptional activation domain, but unexpectedly such a truncated MITF remarkably transactivated the TRP-2 gene promoter. These results suggest that MITF is sufficient to direct pigment cell-specific transcription of the tyrosinase and TRP-1 genes but not the TRP-2 gene.

Base Sequence↗
PubMed1998

Isolated Norrie disease in a female caused by a balanced translocation t(X,6).

This is the second report of Norrie disease in a female patient with a de-novo balanced translocation t(X,6) with breakpoint at the location of the Norrie gene. At the age of 3 months, a girl was referred for suspected congenital glaucoma. The right eye was microphthalmic and ultrasonography was compatible with persistent hyperplasia of the primary vitreous. The left eye was also microphthalmic. The left cornea was larger than the right. The anterior chamber was virtual and leukocoria was evident. The eye felt hard digitally. Ultrasonography indicated an organized retinal detachment. The pathologic findings are reported and are compatible with Norrie disease.

Blindness↗
PubMed2002

Colobomatous microphthalmia and orbital neuroglial cyst: case report.

We present the case of a boy with a congenital right orbital cyst with bilateral colobomatous microphthalmia. Neuroimaging studies excluded communication between the cyst and the eye and between the cyst and the central nervous system. Analysis of cyst fluid obtained by aspiration detected beta 2-transferrin by high resolution immunofixation (IFE). The cyst recurred two months following aspiration. It was then completely excised and histopathologic studies demonstrated a cyst containing neuroglial tissue. No recurrence was observed for 12 months following excision.

Coloboma↗
PubMed1997

Microphthalmia, brachygnathia superior, and palatocheiloschisis in a foal associated with griseofulvin administration to the mare during early pregnancy.

An 18 year old Friesian mare was treated with griseofulvin for dermatomycosis in the second month of pregnancy. Pregnancy was uneventful and after 331 days a male foal was born. The foal showed bilateral microphthalmia, severe brachygnathia superior, and palatocheiloschisis. The lesions were incompatible with life and the animal was euthanized. As similar lesions have been described in other species associated with griseofulvin administration during pregnancy, and the development of the eyes and facial bones in the horse occurs in the second month of pregnancy, the lesions most likely can be attributed to griseofulvin administration.

Abnormalities, Drug-Induced↗
PubMed2006

Small eye phenotypes observed in a human tau gene transgenic rat.

We developed a rat line showing small eye from transgenic rats that were obtained by microinjection of a DNA segment containing the human (h)tau cDNA (GenBank: BC000558: 31-677,774-1180) expressed under control of CAG promoter, which is related to Alzheimer disease, into the pronuclei rat embryos. The rat line was established by selective brother-sister mating of rats showing small eyes. Of 11 offspring in the 11th generation, there were eight animals with microphthalmia and the transgene. The remaining three rats without transgene did not show the small eyes phenotype. The globes of affected rats were 1.2 mm in length compared with normal globes (3.5 mm), and all other ocular structures were normal. The expression of hTau protein was evident immunohistochemically in the ciliary body, extraocular muscle, lens epithelium, and pigment epithelium. Cytogenetic analysis suggested that the chromosome location of the transgene was chromosome 1 (1p12). This region may include genes related to lens development, such as Cat5.

Animals↗