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PubMed1994

Orbital reconstruction using porous polyethylene sheets.

BACKGROUND: There has been growing interest in using porous alloplastic implants for reconstructive orbital surgery because of their perceived increased biocompatibility. One commercially available porous implant is high-density porous polyethylene (Medpor). It is made of pure particles of polyethylene that form interconnecting pores and have excellent handling characteristics. METHODS: The authors performed 37 orbital reconstructions using 0.85-, 1.5-, or 3-mm porous polyethylene sheets to reconstruct internal orbital defects. Mean postoperative follow-up was 18.5 months. Four patients were treated for anophthalmic enophthalmos; there was one patient with spontaneous enophthalmos. In selected patients, other implants also were used, including miniplates or microplates, silastic sheets, autologous bone, or nasal septal cartilage. In patients with enophthalmos, the implants were stacked to reverse the malposition evident at surgery. RESULTS: Preoperatively, 27 patients had symptomatic diplopia. Postoperatively, the diplopia resolved in 15 patients and decreased in 7. No patients had induced diplopia or exacerbation of preoperative diplopia. Enophthalmos resolved in 9 of 18 patients. Hypoglobus was normalized in nine of nine patients. There was one major complication of orbital infection requiring explantation 1 week postoperatively. Minor complications included undercorrection, a symptomatically palpable implant, and transient postoperative chemosis. CONCLUSION: Porous polyethylene sheets offer several distinct advantages when used for orbital reconstruction. They are easy to handle, shape, contour, position, fixate, and use with other autogenous and alloplastic implants. In this series, these sheets permitted predictable, stable results with few complications.

Adolescent↗
PubMed1999

The development of corticocollicular projections in anophthalmic mice.

To determine the role of retinal axons in the development of the corticocollicular projection in mice, the lipophilic fluorescent dye, DiI, was used to compare the development of the cortical projections in phenotypically normal (C57BL/6J) mice to that of anophthalmic 129SV/CPorJ mice. Cortical axons in anophthalmic mice found their targets and established a laminar specificity similar to those of cortical axons in normal mice despite the absence of the retinal projection. Cortical axons in normal mice reached the superior colliculus before those in anophthalmic mice and also had a faster rate of growth within the colliculus. Unlike cortical axons in normal mice in early postnatal ages, those in anophthalmic mice formed a disperse bundle in the stratum opticum. Axons labeled by focal applications of DiI into area 17 terminated in a larger and more medial area in anophthalmic mice than in normal mice. Thus, retinal axons are not essential for cortical axons to reach the superior colliculus, but they may have a role in organizing the growth of later-arriving cortical axons. Furthermore, cortical axons can terminate in the superior colliculus with a coarse topography when retinal axons are absent, but they cannot form a topographically refined projection.

Aging↗
PubMed2001

Altered visual experience and acute visual deprivation affect predatory targeting by infrared-imaging Boid snakes.

Boid and Crotaline snakes use both their eyes and infrared-imaging facial pit organs to target homeothermic prey. These snakes can target in complete darkness, but the eyes can also effectively direct predatory strikes. We investigated the behavioral correlates of boid snakes' simultaneous use of two imaging systems by testing whether congenital unilateral visual deprivation affects targeting performance. Normally sighted Burmese pythons exhibited average targeting angle of zero (on the midline axis of the head), but three unilaterally anophthalmic Burmese pythons targeted preferentially on the sighted side. A unilaterally anophthalmic amethystine python also targeted on the sighted side, and a unilaterally anophthalmic Brazilian rainbow boa tended to target on the sighted side, though its mean targeting angle was not significantly different from zero. When unilaterally anophthalmic Burmese pythons were temporarily blinded, mean strike angle changed to that of normally sighted snakes. These results show that while infrared-imaging snakes can shift between visual and infrared information under acute experimental conditions, loss of part of the visual field during development results in abnormal predatory targeting behavior. In contrast, normally sighted snakes subjected to temporary unilateral blinding do not target preferentially on the sighted side. Therefore, while loss of part of the visual field may be compensated for by infrared input in normal snakes, partial absence of visual input during development may alter central organization of visual information. Conversely, absence of half the visual field during development does not alter targeting performance based upon infrared input alone, suggesting that organization of the central infrared map does not depend upon normal organization of visual input.

Animals↗
PubMed2006

[Congenital anophthalmias: a case of trisomy 13].

Congenital anophthalmia is the result of a lack of development or regression of the primary optic vesicle in utero. It can be isolated or associated with other malformations and can be unilateral or, rarely, bilateral. Different etiologies are usually found such as chromosomal aberrations, gene mutations, toxic agents, and infections. We report a case of bilateral congenital anophthalmia in a setting of a polymalformative syndrome with microcephalia and bilateral lip cleft. Karyotype studies confirmed trisomy 13 known as Patau's syndrome. Trisomy 13 is a rare lethal chromosomal aberration frequently responsible for uni- or bilateral microphthalmia and occasionally for anophthalmia.

Abnormalities, Multiple↗
PubMed1985

Neonatal ophthalmology.

This discussion of normal and abnormal findings on routine ophthalmic examination of the foal should prove useful to the equine practitioner who must provide counsel to the concerned owner and/or breeder. Early diagnosis and treatment of ocular abnormalities improve the prognosis for continued function and aid determination of the significance of lesions observed in later life.

Animals↗
PubMed1998

New syndrome with the Sakoda complex, bilateral anophthalmia, and cortical dysgenesis.

An 8-year-old Japanese boy had Sakoda complex (basal encephalomeningocele, agenesis of the corpus callosum, and cleft lip and/or palate) associated with bilateral anophthalmia, dysgenesis of the cerebral cortex, severe mental retardation, and intractable epilepsy as core symptoms and hemiparesis, microcephalus, short stature, and hemivertebra. Tada and Nakamura described the first case of the Sakoda complex associated with bilateral anophthalmia, cortical dysgenesis, neonatal-onset seizures, and severe mental retardation. Fourteen patients with the Sakoda complex with or without ocular dysplasia were reviewed. It is proposed that these cases belong to a clinical entity that is distinguishable from the remaining 12 patients because of bilateral anophthalmia, cortical dysgenesis, and its resulting severe mental retardation and intractable epilepsy. There is a possibility that these two cases are one severe end of certain spectrum disorders in which certain common gene(s) might be implicated.

Abnormalities, Multiple↗
PubMed1997

Sleep disorders in children with congenital anophthalmia and microphthalmia.

PURPOSE: The increased incidence of sleep disorders among blind patients has been documented in the sleep medicine literature. Blind patients lack the normal regulatory control of retinal input over their circadian rhythms, which can lead to abnormalities in their sleep-wake cycles. Our study was conducted to determine the incidence of sleep disorders in children with anophthalmia or microphthalmia and to offer therapeutic alternatives. METHODS: A 13-question survey was distributed to families of children with anophthalmia, microphthalmia, or both identified through the Anophthalmia/Microphthalmia Registry in Philadelphia, Pennsylvania. The survey included questions regarding the children's medical and ocular histories and any sleep disorders they may have experienced. Questions regarding daily schedules, family history, and social history were also included. RESULTS: Surveys were returned from 13 children with bilateral anophthalmia or microphthalmia. Ten of 13 (77%) anophthalmic/microphthalmic children were reported to have frequent early-morning waking and extensive daytime sleeping. Specific medical and social problems did not appear to be associated with the development of these sleep disorders. Strict daily schedules were often helpful in entraining the children's sleep-wake cycles. CONCLUSION: Without the contribution of retinal input to help regulate circadian rhythms, most children with bilateral anophthalmia or microphthalmia will experience sleep disorders. These children may benefit from the introduction of strict daily schedules, medical therapy (melatonin), or both. An attempt should also be made to preserve any existing light perception.

Anophthalmos↗
PubMed1998

A study of the hydroxyapatite orbital implant drilling procedure.

PURPOSE: The hydroxyapatite orbital implant has been introduced as a buried, integrated implant for use in the anophthalmic patient. The second stage of the procedure involves drilling the implant and inserting a motility peg that allows direct coupling of the artificial eye to the implant. Other authors have advocated an assessment of implant vascularity by imaging prior to drilling. We aimed to see whether our practice of drilling after a predetermined time interval without assessment of implant vascularity would result in a higher complication rate. We also aimed to determine how successful the drilling procedure was in improving both the motility and the stability of the artificial eye. METHODS: The notes of 41 consecutive patients who underwent drilling were studied to determine the time interval between implantation with a hydroxyapatite sphere and drilling, the nature of any complications and any further surgical procedures undertaken. A postal questionnaire was sent to all patients asking them to grade the motility of their implant before and after drilling, and to state whether or not there had been any improvement in the stability of their artificial eye. RESULTS: The most frequent complication encountered was extrusion of the motility peg, which occurred in 3 patients. A total of 5 patients required redrilling. There was an 80% response rate to the questionnaire. Ninety-one per cent of patients felt that there had been an improvement in the motility of their artificial eye and 76% felt that the stability of their artificial eye had been improved. CONCLUSION: Pegging of the hydroxyapatite implant improves both the motility and the stability of the artificial eye in the majority of cases. Complications are infrequent and minor. If sufficient time is allowed after implantation for full implant vascularity to occur, it is not necessary to perform imaging studies. This practice does not result in an increase in complications, and significantly reduces the expense of the procedure.

Adolescent↗
PubMed1999

Ectopic brain tissue in the orbit.

PURPOSE: The authors report findings in a 9-month-old male infant with heterotopic brain tissue in the orbit, and compare and contrast the characteristics in this patient with the few other descriptions of such lesions in the literature. METHODS: Excisional biopsy of the growth was undertaken by means of an anterior orbitotomy. RESULTS: A 9-month-old male infant had a history of congenital left 'anophthalmia' and a slowly growing mass in the left orbit. An MRI scan revealed an orbital mass with solid and cystic components. Histological study of the excised tissue was performed and revealed a choristomatous arrangement of dysplastic brain tissue with intermixed primitive retina including pigmented epithelium. There was no connection between the orbit and cranial cavity. CONCLUSIONS: The mass must be considered a rare example of heterotopic brain tissue in the orbit and is the only instance we could find in the literature in which a formed eye was absent but in which a scattered primitive ocular structure could be identified.

Anophthalmos↗
PubMed1994

PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects.

The human eye malformation aniridia results from haploinsufficiency of PAX6, a paired box DNA-binding protein. To study this dosage effect, we characterized two PAX6 mutations in a family segregating aniridia and a milder syndrome consisting of congenital cataracts and late onset corneal dystrophy. The nonsense mutations, at codons 103 and 353, truncate PAX6 within the N-terminal paired and C-terminal PST domains, respectively. The wild-type PST domain activates transcription autonomously and the mutant form has partial activity. A compound heterozygote had severe craniofacial and central nervous system defects and no eyes. The pattern of malformations is similar to that in homozygous Sey mice and suggests a critical role for PAX6 in controlling the migration and differentiation of specific neuronal progenitor cells in the brain.

Abnormalities, Multiple↗
PubMed2003

Mutations in SOX2 cause anophthalmia.

A submicroscopic deletion containing SOX2 was identified at the 3q breakpoint in a child with t(3;11)(q26.3;p11.2) associated with bilateral anophthalmia. Subsequent SOX2 mutation analysis identified de novo truncating mutations of SOX2 in 4 of 35 (11%) individuals with anophthalmia. Both eyes were affected in all cases with an identified mutation.

Anophthalmos↗
PubMed2002

Delineation of an estimated 6.7 MB candidate interval for an anophthalmia gene at 3q26.33-q28 and description of the syndrome associated with visible chromosome deletions of this region.

Anophthalmia or microphthalmia occur in approximately one in 10 children who have severe visual impairment. These eye malformations are often of unknown aetiology, but can be inherited in autosomal dominant, recessive or X-linked forms, and can also occur in association with specific chromosome abnormalities. Four children are described in the medical literature with microphthalmia or anophthalmia in association with chromosome rearrangements involving distal 3q, suggesting the presence of a micro/anophthalmia gene in this region. We have identified two further patients with micro/anophthalmia and chromosome rearrangements involving 3q26-->3q27 and identified a 6.7 MB common deleted region. Patient 1 had multiple abnormalities including bilateral anophthalmia, abnormalities of the first and second cranial nerves and partial absence of the corpus callosum. His karyotype was 46,XY,del(3)(q26.33q28). Patient 2 had right anophthalmia and left extreme microphthalmia. Her karyotype was 46,XX,del(3)(q26.33q28)t(3;7)(q28;q21.1). Both patients had intrauterine growth retardation (IUGR) and strikingly similar dysmorphic facies consisting of bossed forehead, downward-slanting palpebral fissures, grooved bridge of the nose, prominent low-set ears, small down-turned mouth and small mandible. We identified BAC clones mapping to distal 3q from the ENSEMBL and NCBI Entrez databases. These BAC clones were used as fluorescence in situ hybridisation (FISH) probes to identify the minimum deleted region common to both patients. This interval, between clones RPC11-134F2 and RPC11-132N15, was estimated to be 6.7 MB. We conclude that there is an anophthalmia locus within this interval. Candidate genes mapping to this region include Chordin and DVL3, a homologue of the Drosophila Dishevelled gene.

Anophthalmos↗
PubMed2001

The oculocardiac reflex in a congenitally anophthalmic child.

We report a case of reflex bradycardia due to ophthalmic surgical stimulus in a congenitally anophthalmic child. Although the oculocardiac reflex has been previously reported from the empty orbit following enucleation, we are unaware of other cases involving a congenital absence of the globe.

Anophthalmos↗
PubMed2002

Colon atresia, facial hemiaplasia, and anophthalmia: a case report.

A case of a newborn with atresia of the transverse colon and right facial hemiaplasia, anophthalmia, and cerebral dysfunction is reported. Colon atresia is a rare cause of congenital bowel obstruction and often associated with other malformations such as abdominal wall defects, gastrointestinal, cardiac, urogenital, and musculosceletal lesions. Facial hemiaplasia may arise in frame of chromosomal defects or as a result of neurovascular compromise caused by congenital amniotic bands. However, the combination of colon atresia and facial hemiaplasia has not been reported before.

Abnormalities, Multiple↗
PubMed1995

[Prenatal diagnosis of isolated, unilateral anophthalmia].

Report on prenatal sonographic diagnosis of an isolated, unilateral anophthalmia. In the 27th week of gestation, unilateral anophthalmia without associated malformations was demonstrated in a fetus with male karyotype. The boy was delivered at 39 weeks' gestation. Post partum evaluation confirmed prenatal diagnosis. The child is developing normally to date.

Adult↗
PubMed1999

Congenital orbital teratoma.

A case of congenital orbital teratoma is described in which there was no organized eye only microscopic evidence of ocular tissues within the disorganized teratoma. A baby boy presented at birth with a 10-x-8-cm mass extruding from the left orbit. Magnetic resonance imaging (MRI) showed a mixed cystic-solid orbital mass containing areas of calcification and deforming the bony orbit around its margins. There was no organized eye and no intracranial extension. The eye was removed with reconstruction of the eyelids. Histopathology showed representation from all three germ cell layers consistent with a teratoma. There was no organized eye, but some disorganized ocular structures within the teratoma. Follow-up has been uneventful. Neonatologists and pediatricians should be aware of the possible diagnoses in a newborn presenting with an orbital mass, so that early definitive surgery can be performed with preservation of the globe where possible.

Anophthalmos↗