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Hydrophilic expanders for the congenital anophthalmic socket.

The congenitally contracted socket often poses a challenging management problem; early surgery may be necessary in spite of the attendant difficulties. A series of patients is presented, with particular emphasis upon the use of a new hydrophilic expander in the severely contracted socket, to illustrate our current management protocol. Factors pertinent to orbital development and growth are discussed. Two types of contracted sockets are identified that appear to correlate with the presence or absence of an eye or ocular remnant. Use of a hydrophilic expander in the severely contracted anophthalmic socket with marked lid phimosis has enabled subsequent fitting and retention of a hard conformer in many of these cases, thus obviating early interventional surgery.

Adolescent↗

The myofibroblast and the anophthalmic socket.

One of the greatest advances in the understanding of wound healing was the identification and characterization of the myofibroblast by Gabbiani in 1971. Since that time this contractile cell has been found in the early stages of wound healing and in many pathologic states. In a recent study, the myofibroblast was found in healing and contracting anophthalmic sockets.

Animals↗

Eye birth defects in humans may be caused by a recessively-inherited genetic predisposition to the effects of maternal vitamin A deficiency during pregnancy.

Congenital malformations of the eye can cause blindness in children. They occur throughout the world and in most cases the aetiology is unknown. Linkage studies have largely been unsuccessful and the risk to siblings is generally low. Epidemiological and laboratory evidence support a hypothesis that there may be genetic (recessive) predisposition to the teratogenetic effects of mild to moderate maternal vitamin A deficiency (VAD) during pregnancy. This may explain the higher prevalence of congenital eye anomalies in a part of Asian countries, where maternal VAD is common and consanguineous marriages are popular. Other congenital malformations commonly found in association with ocular coloboma (e.g. oesophageal fistulae and heart defects in CHARGE association) may also be VAD related. Mutations in a gene involved in the cellular access to vitamin A that normally protects the tissue or embryo from natural variation in dietary vitamin A intake, could render that individual intolerant of conditions of VAD. An interaction of this kind could also explain a proportion of "sporadic" cases in locations where VAD is uncommon. If this interaction is shown to be true, there are public health implications for the prevention of blindness due to congenital eye malformations. The hypotheses proposed above are reminiscent of the research leading to the discovery that folic acid supplementation could prevent neural tube defects. However, this form of intervention would be much more difficult with vitamin A, which is itself a powerful teratogen if present in excess.

Anophthalmos↗

[Bilateral anophthalmia associated with further anomalies of the head in German Holstein calves].

Two female calves of the breed German Holsteins showing bilateral anophthalmia and deformations of the jaws such as brachygnathia superior and bilateral cleft of lips and noses, respectively, were born on two different farms. Similar congenital defects could be found neither in the relatives of the affected calves nor in other animals of the same herds. A monogenic autosomal recessive inheritance may have caused bilateral anophthalmia. Chromosomal aberrations could not be detected in the affected calves. The possible environmental causes such as infection by the BVD-virus or oversupply or deficiency of vitamin A are very unlikely.

Animals↗

Oculocardiac reflex in the anophthalmic socket.

The oculocardiac reflex occurred in a patient with an anophthalmic socket undergoing surgery for inferior fornix shortening and laxity of the lower lid. This reflex occurs only rarely in anophthalmia; it has not been previously reported during socket surgery.

Aged↗

Fanconi's anemia in newborn.

Fanconi's anemia (FA) is a paradigm for congenital anomalies, aplastic anemia and predisposition to malignancies. Identification of the disease at birth is based on characteristic physical malformations, as hematologic manifestations at birth are extremely rare. We report a case of FA in a newborn who presented with anophthalmia, unilateral radial ray defect, hemivertebrae and thrombocytopenia.

Abnormalities, Multiple↗

A novel Fryns "Anophthalmia-plus" syndrome associated with primary hypothyroidism.

A novel Fryns "anophthalmla-plus" syndrome associated with primary hypothyroidism: Here, we report a newborn male with "anophthalmia-plus" syndrome and primary congenital hypothyroidism. To our knowledge this is the first case of 'anophthalmia-plus' syndrome associated with congenital hypothyroidism in the literature up to date.

Abnormalities, Multiple↗

[Implantation of porous polytetrafluoroethylene orbital inserts: techniques and outcomes. Communication 1].

This paper presents the outcomes of 230 primary, advanced, and secondary implants of polytetrafluoroethylene orbital inserts manufactured by the closed joint stock company "Nauchno-Proizvodstvennyi Kompleks (Scientific-and-Production Complex) "Ekoflon" (Saint Petersburg). The duration of a follow-up was 6-36 months (mean 15.9 +/- 037 months). The accumulated experience suggests that polytetrafluoroethylene orbital inserts are noted for their biocompatibility, easiness of manual treatment, and simplicity of implantation. Thus, porous polytetrafluoroethylene orbital inserts are promising medical articles designed for the prevention and treatment of the anophthalmic syndrome.

Adolescent↗

[Implantation of porous polytetrafluoroethylene orbital inserts: complications. Communication 2].

The purpose of the study was to analyze the pattern and frequency of complications following 230 implants of porous polytetrafluoroethylene (PTFE) orbital inserts. The total frequency of the complications to be treated was 7.4%. Among them there were pointed conjunctival perforations during enucleation (1.3%); early exposures of orbital inserts due to surgical defects (2%); late exposures caused by the planned replacement of an old prosthesis by a new one that had proved to be poorly adjusted (1.4%); significant bleapharoptosis (2%); lower eyelid atony (0.7%). Noteworthy is the fact that there were no infectious complications. Thus, implantation of PTFE orbital inserts is attended by a very narrow range of the complications, which are typical of this branch of ophthalmosurgery, whose frequency is not greater than the use of implants made from other porous materials.

Adolescent↗

An infant with diaphragmatic hernia, anophthalmia and cardiac defect: evaluation by magnetic resonance imaging autopsy.

We present an infant with diaphragmatic hernia, anophthalmia and cardiac defect evaluated by magnetic resonance imaging (MRI) autopsy. This female infant was born at 39th weeks by vaginal delivery and presented with diaphragmatic hernia, anophthalmia, cardiac defect and died due to respiratory problems at 28th hours of life. MRI autopsy showed internal organ abnormalities including congenital hernia of the left diaphragm, secondary hypoplasia of the left lung, atrial and ventricular septal defect, dilatation of calices of the kidneys, bilateral anophthalmia, hypoplasia of the optic nerves, hyperintensity of pituitary gland possibly due to bleeding and a cyst of the septum pellucidum. This article shows that MRI autopsy is a valuable method for the evaluation of cases with congenital anomalies if autopsy is not possible.

Abnormalities, Multiple↗

Congenital cystic eyeball.

A rare case of histopathologically proved case of congenital cystic eye in a one day old girl is described. It was an unusually large cystic mass bulging forwards stretching the upperlid. There was no rudimentary eyeball in the orbit. The cystic eye's predilection for the left eye has been pointed out for the first time in this article.

Anophthalmos↗

Skin grafting in severely contracted socket with the use of 'Compo'.

The results of split thickness autologous skin grafting along with the use of a dental impression material (Compo), a thermoplastic substance are presented in a series of 11 patients of acquired, severely contracted, anophthalmic sockets. Only the fornix fixation sutures and the central tarsorrhaphy were employed for the proper placement of graft without the use of retention devices. Artificial eyes were successfully fitted and retained subsequently after 6 weeks of grafting.

Adolescent↗

[Prenatal diagnosis of various hereditary blinding diseases].

The availability of more and more reliable obstetrical echographies makes now possible to screen fetuses for microphtalmies and anophtalmies. More over, by mean of linkage studies with DNA markers within a family, we can identify the women who will transmit X-linked diseases, and realize a prenatal diagnosis. This technology can be applied to the following ophthalmological diseases: the X-linked retinoschisis, the choroideremia, the ocular albinism, the Noorie disease, and recently the retinoblastoma. From now on, the use of such a technology which makes it possible to detect ophthalmological diseases in the fetuses, is posing ethical problems especially in case of diseases without any survival prognosis involvement.

Anophthalmos↗