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At least 343 records · Page 19Linked to original sources
PubMed2003

[Congenital clinical anophthalmia and blind microphthalmia].

Congenital anophthalmia and blind microphthalmia are very rare conditions and there is no standard treatment available. Various previously reported therapeutical concepts are reviewed. The clinical picture can be divided into three subgroups with different therapeutical options recommended: in microphthalmia the conjunctival sac size is usually normal or slightly decreased. The use of non-expandable conformers is possible with good results. Patients treated with hydrogel expanders can wear a prosthesis earlier and with better cosmetic results. In congenital anophthalmia the conjunctival sac is very small and contracted and patients cannot wear a prosthesis or even a conformer. Hydrogel expander treatment--first for the conjunctival sac and second for the orbit--is the therapeutical option which may lead to good cosmetic results. Children >5 years of age and/or unsuccessful pre-treated cases may benefit from osteotomy to reduce mid-face asymmetry. To attain the main therapeutical goal in this subgroup, the ability to fit a normal prosthesis, a combination of different techniques like hydrogel expanders, dermis fat graft, lid surgery etc. may be necessary.

Anophthalmos↗
PubMed2001

[Rehabilitation of anophthalmic patients. Results of a survey].

BACKGROUND: We surveyed ocularists' views on orbital implants, secondary surgical procedures, patient satisfaction, and cooperation between ophthalmologists and ocularists. METHOD: A 14-item questionnaire was sent to all 29 ocularists working in Germany all 4 in the Netherlands. RESULTS: Primary implants are generally recommended, preferably dermofat grafts and ,,baseball" implants. Outcome depends crucially upon surgical procedure and postoperative course. Scepticism is common toward secondary surgical procedures, with the success rate estimated at 70%. Cooperation between ocularists and ophthalmologists is generally regarded as unsatisfactory, also the information provided to the patients by the ophthalmologist after enucleation. CONCLUSIONS: The ocularists demand best possible enucleation techniques including the use of primary implants. However, they are critical toward secondary procedures for correcting postenucleation socket syndrome. Cooperation between ocularists and ophthalmologists need to be improved in providing patient care.

Anophthalmos↗
PubMed2000

New osmotically active hydrogel expander for enlargement of the contracted anophthalmic socket.

BACKGROUND: Clinical anophthalmia is characterized by the absence of an eyeball within the orbit and can result in overall growth retardation of the facial skeleton. The goal of treatment consists of fitting a serial prosthesis following rapid expansion of the contracted socket as soon as possible to achieve cosmetically acceptable eyelid and orbital symmetry. METHODS: Four children, aged 3-11 months, were treated by implantation of an anhydrous, highly hydrophilic tissue expander into the rudimentary conjunctival sac. With hydration of up to 98% in 72 h, the copolymer of methylmethacrylate and vinylpyrrolidone acts like an osmotically self-inducing socket expander. RESULTS: In the course of 2 months the previous contracted socket was enlarged, the horizontal lid length increased and the hydrated expander could be exchanged for a custom-made glass prosthesis. CONCLUSION: Preliminary results suggest that this new device can be used to avoid early plastic surgery of the eyelid. In addition, it also may enlarge the volume of the bony orbit.

Anophthalmos↗
PubMed2006

[The rare malformation of nasal aplasia].

BACKGROUND: After presenting two sisters with the rare form of congenital arrhinia, this syndrome is reviewed, an explanation of the pathogenesis is offered and the therapeutic options of the functional and aesthetic reconstruction are discussed. DISCUSSION: In cases of congenital arrhinia different degrees of respiratory distress, cyanotic episodes, and impaired food intake are described. Therefore after birth respiration and food intake need to be monitored to alleviate the situation through intubation or tracheotomy. The following conclusions could be made based on the literature overview. Little is known about the pathophysiology and a great variety of therapeutic interventions and reconstruction solutions with a wide spectrum of complications are described. Due to the numerous forms of complications, which need to be compared with the reconstructive results, indications for surgical reconstruction of the airway and plastic reconstruction of the nose during childhood must be defined very stringently. CONCLUSION: One method to achieve a satisfactory plastic result is with an osseointegrated prosthesis. This facial prosthesis can be inserted without complications and can guarantee an adequate result, whereas no impairment of maxillofacial development was noted.

Adolescent↗
PubMed2002

Newborn with anophthalmia and features of Fryns syndrome.

We report a newborn female with craniofacial malformations, bilateral anophthalmia, large abnormally shaped ears, short neck, small distal phalanges and nails, left diaphragmatic hernia, hypoplastic optic nerves, severe pulmonary hypoplasia, and an accessory spleen, and describe the autopsy findings. The infant expired at 18 h of life. The features were most consistent with Fryns syndrome although other conditions were considered including Matthew Wood syndrome. Anophthalmia, to our knowledge, has not been reported previously in Fryns syndrome; however, eye findings are common, particularly microphthalmia and cloudy cornea.

Abnormalities, Multiple↗
PubMed2005

The epidemiology of anophthalmia and microphthalmia in Sweden.

Infants with a clinical diagnosis of anophthalmia or microphthalmia were identified from four health registers in Sweden, covering different parts of the period 1965-2001. During the observation period, the rate of anophthalmia decreased from the early 1970s from 0.4 to 0.2 per 10,000 births. The registered rate of microphthalmia increased markedly during the observation period to reach a maximum in 1987 of about 1.5 per 10,000. About 10% of the 432 identified children had a chromosome anomaly. There was no geographical variation in prevalence and infants born in urban or rural districts had, if anything, a lower risk than infants born in cities (0.93 and 1.13 per 10,000, respectively). Non-eye malformations were more common at anophthalmia (63%) than at microphthalmia (30%). Sex ratio was normal and no statistically significant variation between sub-groups (anophthalmia, microphthalmia, isolated, associated with non-eye malformations) could be demonstrated. There was a marked risk increase with maternal age but no certain parity effect, no effect of maternal education, but a possible association with subfertility. Maternal smoking in early pregnancy seemed to increase the risk for anophthalmia or microphthalmia in the absence of a coloboma.

Adult↗
PubMed2005

A population-based case-control study of isolated anophthalmia and microphthalmia.

The purpose of the study was to reveal the etiological factors in the origin of isolated an/microphthalmia. The dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities, 1980-2002 containing 56 cases with isolated an/microphthalmia and 22,744 malformed controls with other non-ocular defects from the Hungarian Congenital Abnormality Registry, in addition of 56 matched control pairs and 37,837 population controls without defects from the National Birth Registry, was evaluated. Exposure data and family history were collected (i) prospectively by prenatal logbook and other medical records, (ii) retrospectively through a structured questionnaire filled-in by mothers, and (iii) information obtained by regional nurses at home visit of non-respondent mothers. The autosomal recessive origin of isolated an/microphthalmia was indicated in about 10% of cases on the basis of sib recurrence. Cases with isolated an/microphthalmia had a much shorter mean gestational age and smaller mean birth weight, a much larger proportion of preterm birth and low birthweight. Their mothers were younger with a predominance of first birth order, frequently unmarried with low socioeconomic status. These findings are in agreement with a much higher prevalence at birth of cases with isolated an/microphthalmia in the gypsy population probably due to the interaction of inbreeding effect and low socioeconomic status. Further molecular genetic studies are needed to identify gene mutations of isolated an/microphthalmia in the Hungarian gypsy population.

Anophthalmos↗
PubMed1977

A method to correct the contracted socket.

In four patients, rotation of the inferior tarsus around the tarsal-tendon horizontal axis caused a contracted socket with loss of lower fornix and the inability to retain an artificial eye. Exposure of the lower border of the inferior tarsus through a skin incision, separating the tarsus from the overlying orbicularis oculi muscle, and suturing its lower margin to the skin corrected the abnormality.

Anophthalmos↗
PubMed1990

Circadian rest-activity rhythms in the anophthalmic, monocular and binocular ZRDCT/An mice. Retinal and serotoninergic (raphe) influences.

In the present study, two strains of mice were used: the control C57 Black/6 and the experimental ZRDCT/An, composed of anophthalmic (AN), monocular (mono) and binocular (bi) animals. The circadian rest-activity rhythms of these mice, submitted to a 12 h/12 h light/dark (L/D) cycle, present different characteristics. In C57 Black/6 animals the rhythms are classically synchronized to the L/D cycle with a maximal activity during the dark period, mainly at its beginning. In the AN mice, without exception, the rhythms are free running. In the bi and mono animals they are either synchronized to the L/D cycle, or synchronized but phase shifted in comparison with C57 Black/6, or free running. For the mono and bi animals, the typical or atypical mode of synchronization of their rhythms to the L/D cycle appears to be correlated with the ganglion cell density. It is well known that such a retinal component ensures the retino-hypothalamic connections. In the C57 Black/6 and AN mice, differential pulse voltammetric measurements of 5-hydroxyindoleacetic acid (5-HIAA, peak 3) extracellular concentrations have been also realized together with polygraphic recordings of the sleep/waking cycle. In both strains, the height of the 5-HIAA peak 3 recorded in the cortex is always the highest during active waking, and decreases during slow wave sleep and paradoxical sleep. Further, a circadian variation of this signal is superimposed to that of the waking state amount. Such circadian variations are synchronized to the L/D cycle in C57 Black/6 animals and free running in the AN mice.

Animals↗
PubMed1992

VIP-like immunoreactivity in the suprachiasmatic nuclei of a mutant anophthalmic mouse.

The suprachiasmatic nuclei (SCN) of mutant anophthalmic (strain ZRDCT-An) and sighted control mice was examined using light microscopic methods for cytoarchitecture and immunocytochemistry for vasoactive intestinal polypeptide (VIP). The SCN of the anophthalmic mice were asymmetrical, and quite variable in cytoarchitecture. Immunocytochemistry for VIP revealed strong staining of cells and fibers. Within the SCN, the distribution of VIP-immunoreactive cells was more diffuse in anophthalmic mice than in the controls; immunoreactive neurons were frequently observed in ectopic locations in the mutant animals.

Afferent Pathways↗