PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “ANOPHTHALMOS”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 379 records · Page 21Linked to original sources
PubMed2004

Localization of extraocular muscles during secondary orbital implantation surgery: the tunnel technique: experience in 100 patients.

PURPOSE: To describe a technique for localizing extraocular muscles during secondary orbital implantation and to report the author's experience in 100 consecutive cases. DESIGN: Retrospective, noncomparative, consecutive case series. PARTICIPANTS AND METHODS: A retrospective review was performed of the charts from one surgeon's practice of 100 consecutive patients who received a secondary porous orbital implant for anophthalmic socket rehabilitation. The following data were recorded: age, gender, reason for seeking secondary implantation, type of implant used, size and style of implant used, number of muscles localized, follow-up duration, and problems encountered and their treatment. Preoperative and postoperative photographs, implant motility, prosthetic motility, and overall impressions (by patient and physician) of the surgical outcome were analyzed. RESULTS: The 100 patients (66 males and 34 females, with a mean age of 38.9 years) were followed up for an average of 16.9 months (range, 4-60 months). All 4 rectus muscles were identified in 93 patients, 3 recti were identified in 6 patients, and 2 recti were identified in 1 patient. In 2 patients, the levator muscle mistakenly was thought to be the superior rectus muscle and was connected to the implant. Reconstructive surgical procedures were required in both cases. At final follow-up, 98% of patients believed that they had benefited from surgery, with an improved prosthetic appearance, improved symmetry between the 2 eyes, improved comfort, better prosthetic motility, or a combination thereof. Compared with the results of the preoperative examination, implant and prosthetic motility was improved in 92% to 98% of patients. CONCLUSIONS: The tunnel technique allows successful localization of extraocular muscles during secondary orbital implant surgery in a high percentage of patients. Surgical outcomes were excellent, with few complications and high patient satisfaction.

Adolescent↗
PubMed2006

Sox2 and Pou2f1 interact to control lens and olfactory placode development.

Sox2, which encodes an SRY-like HMG box transcription factor, is critical for vertebrate development. Sox2 mediates its transcriptional effects through the formation of complexes with specific co-factors, many of which are unknown. In this report, we identify Oct-1, encoded by the Pou2f1 gene, as a co-factor for Sox2 in the context of mouse lens and nasal placode induction. Oct-1, Sox2, and Pax6 are co-expressed during lens and nasal placode induction and during subsequent developmental stages. Genetic combination of Sox2 and Pou2f1 mutant alleles results in impaired induction of the lens placode, an ocular phenotype that includes anophthalmia, and a complete failure of nasal placode induction. These ocular and nasal phenotypes closely resemble those observed in Pax6 null embryos. Moreover, we identify DNA-binding sites that support the cooperative formation of a complex between Sox2 and Oct-1 and mediate Sox2/Oct-1-dependent transactivation of the Pax6 lens ectoderm enhancer in vitro. We demonstrate that the same Sox- and Octamer-binding sites are essential for Pax6 enhancer activity in the lens placode and its derivatives in transgenic mouse embryos. Collectively, these results indicate that Pou2f1, Sox2 and Pax6 are interdependent components of a molecular pathway utilized in both lens and nasal placode induction.

Animals↗
PubMed1996

Hypothalamic-hypophyseal dysgenesis as a neuroimaging correlate of pituitary hormone deficiency in anophthalmia.

PURPOSE: To document the association of neurohypophyseal dysgenesis with hypopituitarism in a child with primary bilateral anophthalmia. METHODS: An infant with bilateral anophthalmia underwent magnetic resonance imaging and endocrinologic evaluation. RESULTS: Magnetic resonance imaging showed dysgenesis confined to the hypothalamus and hypophyseal stalk. Endocrinologic testing showed low serum cortisol and pituitary gonadotropin levels. CONCLUSION: Magnetic resonance imaging can help predict which children with anophthalmia will have endocrinologic deficiencies.

Abnormalities, Multiple↗
PubMed1980

Clinical anophthalmia associated with congenital cytomegalovirus infection.

Three cases of congenital clinical anophthalmia associated with congenital cytomegalovirus infection were diagnosed by positive viral cultures and immunologic studies. Ultrasonography in one infant with clinically detected anophthalmia showed the presence of severe microphthalmia with cyst. These findings suggest that maternal infection occurred within the first trimester of gestation.

Anophthalmos↗
PubMed2001

The relationship between circadian rhythmicity and vasoactive intestinal polypeptide in the suprachiasmatic nucleus of congenitally anophthalmic mice.

To date, the search for the clock component that is both necessary and sufficient for generation of circadian rhythms has relied primarily on experimental interventions such as lesions and transplantation of fetal SCN. While these approaches have been fruitful, lesions disrupt adjacent host tissue and fiber pathways, and donor tissue is likewise subject to trauma during harvest and transplantation. The current investigation has used congenitally anophthalmic (eyeless) mice to ask whether VIP-IR SCN neurons are necessary and sufficient for generation of circadian rhythms. In this animal model, arrhythmic mice occur naturally, together with their rhythmic littermates. We have combined recording of wheel-running activity with light microscopic immunocytochemistry for vasoactive intestinal polypeptide (VIP) and cytoarchitectural analysis of the suprachiasmatic nuclei (SCN) in rhythmic and arrhythmic anophthalmic mice. Our data provide the first definitive evidence that the presence of VIP neurons in the SCN is not sufficient for generation of circadian locomotor rhythms.

Animals↗
PubMed2002

Physiological and anatomical properties of the suprachiasmatic nucleus of an anophthalmic mouse.

Congenitally anophthalmic mice (ZRDCT-AN) have circadian rhythms which 'free-run' and are not light modulated. Their rhythms differ from those of controls in: duration of circadian period, length of active phase, and pattern/intensity of activity. Three different populations have been described based upon wheel-running: rhythmic with stable period, rhythmic with unstable period and arrhythmic. Circadian rhythms are generated by neurons in the suprachiasmatic nuclei (SCN) of the hypothalamus. To better understand whether intrinsic properties of SCN neurons differ in anophthalmic and sighted mice, we examined the electrical activity of these neurons in slices, using single unit recordings, ionophoresis and bath perfusion of agonists and antagonists of known SCN neurotransmitters. Lucifer yellow was injected to characterize morphology. In controls, in daytime, units fired at a higher rate (44% at >/=5 Hz) than at night (21% at >/=5 Hz) and with regular interspike intervals versus irregular intervals nocturnally. In anophthalmics four firing patterns were observed as follows: (1) irregular at <5 spikes/s (70% of the total); (2) regular at >/=5 spikes/s; (<10%); (3) irregular bursts (20%); (4) regular bursts (<1%). Most neurons were inhibited by GABA, but a few were excited in controls. Blocking synaptic transmission with low Ca(2+)/high Mg(2+) increased the frequency and regularized the pattern of previously irregular discharges both in anophthalmics and controls. Bicuculline (10(-5) M), a GABA(A) antagonist, had a similar effect. These data suggest that the characteristic irregular firing pattern of anophthalmics, and of controls at night, results from extrinsic, at least in part, GABAergic input.

Action Potentials↗
PubMed2005

Anophthalmia and microphthalmia in the Alberta Congenital Anomalies Surveillance System.

BACKGROUND: A higher than expected rate of anophthalmia/microphthalmia (A/M) for 1999 was noted in both the Alberta Congenital Anomalies Surveillance System (ACASS) and the Canadian Congenital Anomalies Surveillance System (CCASS). Since this increase was at variance with the previous 19 years, we performed a review to determine whether the increase was true and, if so, the possible explanation. METHODS: We reviewed the records of the cases of A/M in the ACASS together with the accompanying attachments (e.g., consultant, autopsy and chromosome reports) for 1991-2001. In addition, we contacted all 91 registered ophthalmologists in Alberta. Letters were also written to the Edmonton and Calgary offices of the Canadian National Institute for the Blind (CNIB). RESULTS: Sixty cases of A/M were ascertained over the study period. Of the 88 active ophthalmologists in the province, 21 (24%) replied, but no new cases were ascertained from this source. No replies were received from the CNIB. We constructed five categories of clinical phenotypes for the 60 cases: 20 had a chromosomal etiology, 13 had a recognized syndrome or association, 16 had extraocular malformations, 5 had other eye anomalies, and 6 had A/M only. Pregnancy terminations were not included. The higher rate in 1999 was mainly due to cases with a chromosomal etiology or a recognized syndrome or association. There was no indication that a teratogen was causing a cluster of A/M cases, as our annual rates were comparable to those for other jurisdictions not only in Canada but also in other countries. INTERPRETATION: Our review confirmed that the rate of A/M in Alberta in 1999 was high but that the increase was mainly due to five cases of trisomy 13 together with one case associated with a syndrome (Meckel-Gruber). Our findings provide reassurance that there was no environmental cause of clustering of anophthalmia or microphthalmia. This review demonstrates the importance of ongoing population-based surveillance in providing baseline birth prevalence rates for evaluating trends and clusters.

Alberta↗
PubMed1999

Nonphotic entrainment of activity and temperature rhythms in anophthalmic mice.

Although it is more common to study the effects of light on circadian systems, nonphotic stimuli can also influence and entrain circadian clocks. Because anophthalmic mice (ZRDCT-AN) have a genetic mutation that prevents the development of the eyes, they do not respond to light or entrain to light-dark cycles. Thus, entrainment of anophthalmic mice requires a nonphotic zeitgeber (entraining stimulus). In the current study we attempted to entrain sighted and anophthalmic mice of the same strain, using restricted access to an unlocked running wheel as the zeitgeber. First, free-running rhythms were established. The running wheels were then locked, and unlocked only from 0930-1130 h each day. Finally, a postentrainment free run was measured. In one group of animals, body temperature and general activity were measured using a Minimitter telemetry system. In another, general activity was measured by a sensitive force plate beneath the cage. Running-wheel activity was recorded in both groups. The force plate proved satisfactory for observing the behavior of the circadian system during wheel locking, and preferable to the temperature transmitters for long-term studies because the battery life of the mouse temperature transmitters was limited. Both sighted and anophthalmic mice were able to entrain to restricted wheel access, although not all animals responded. Mice that did not entrain showed either no effect of wheel locking or exhibited masking.

Animals↗
PubMed1998

Anophthalmic socket and orbital implants. Role of CT and MR imaging.

The role of CT and MR imaging examination of orbital implants and the anophthalmic socket is expanding constantly. As the imaging techniques gain refinement and resolution, the list of potential clinical application grows. Frequent clinical-radiologic queries regarding the anophthalmic socket include neuro-radiologic findings with congenital anophthalmia or bilateral microphthalmia, the vascularization or position of an orbital implant following enucleation, or orbital recurrence of tumor following enucleation. Common clinical-radiologic questions regarding orbital implants relate to the associated findings of trauma, infection, bleeding, or recurrence of tumor in relationship to the existing orbital implant.

Anophthalmos↗
PubMedDate not supplied

Congenital cystic eye: report of two cases and review of the literature.

A 13-month-old boy and a 2-week-old girl, who were considered to be anophthalmic and who later each developed a cystic lesion in the left orbit with protrusion of the lower eyelid, were studied. The fellow eye in case 1 was subsequently found to be microphthalmic with cyst and was normal in case 2. Histopathologic study of each case revealed a cyst lined externally by dense fibrous connective tissue to which skeletal muscle and adipose tissue were attached. The inner aspect of the cyst was lined by neuroglial tissue, possible immature retinal tissue, and cuboidal epithelium. No fully developed ocular structures or microphthalmos were identified. Fourteen cases of congenital cystic eye, including our cases, have been published in the English-language literature since 1964. We discuss and illustrate the findings in our cases and 10 others in which histopathologic findings were reported. Congenital cystic eye, microphthalmos with cyst, and microphthalmos with cystic teratoma should be suspected in patients with a small or unrecognizable eye and an orbital cystic mass that is detected by palpation or visualization.

Anophthalmos↗
PubMed1983

Use of sclera and liquid collagen in the camouflage of superior sulcus deformities.

The cosmetic deformities following enucleation are often unavoidable. Loss of orbital volume and atrophy of orbital fat create significant enophthalmos. The literature is filled with numerous procedures that add to the orbital volume of the anophthalmic socket. An outline of three procedures to the upper eyelid to camouflage an enophthalmic appearance are presented. These can be used alone or in conjunction with an "orbital volume increasing" procedure. Two procedures can be used in an office setting to alleviate small deformities; 19 patients have been treated in this manner with a follow-up period of up to 26 months.

Adipose Tissue↗
PubMed1985

Management of complications following dermis-fat grafting for anophthalmic socket reconstruction.

Sixty consecutive cases of dermis-fat grafts for anophthalmic socket reconstruction were reviewed to examine the frequency, severity, and management of postoperative complications. In seven patients, the conjunctiva failed to resurface the graft and central ulceration developed. Ten cases resulted in enophthalmos. Two patients developed keratinized sockets with chronic discharge and desquamation. Three patients required excision of conjunctival granulomas. One patient developed a primary graft infection. A donor site hematoma occurred in one patient. Secondary surgical intervention was required in ten patients. Nine complications in eight patients were managed in the office; five complications in four patients were observed and subsequently resolved without surgical intervention. Most complications occurred in patients with severely traumatized sockets who had undergone extensive earlier ocular surgery, or who had a systemic disease contributing to defective wound healing.

Adipose Tissue↗