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Congenital microphthalmos and anophthalmos are currently considered rare conditions. Many infectious agents have been previously associated with these pathologies, but rarely Treponema pallidum. We report a case of bilateral microphthalmos in which her mother presented gestational syphilis.
Ocular coloboma is common malformation which includes a spectrum of anomalies that ranges from iris coloboma to clinical anophthalmos. Coloboma is etiologically heterogeneous. As an isolated defect, it is usually inherited as an autosomal dominant disorder, although autosomal recessive inheritance also occurs. Patients with multiple malformations and coloboma may have a recognized malformation syndrome of unknown etiology, a single gene disorder, or chromosomal abnormality. Prognosis and recurrence risk can be determined only after complete evaluation of the patient and other family members.
PURPOSE/METHODS: Focal dermal hypoplasia is an inherited dermatologic disorder commonly associated with skeletal and dental abnormalities. Ocular abnormalities frequently found in patients with focal dermal hypoplasia include microphthalmos, anophthalmos, and colobomas. Corneal abnormalities rarely have been described in patients with focal dermal hypoplasia. We examined a mother and daughter with focal dermal hypoplasia with distinctive corneal lesions. RESULTS/CONCLUSION: Several discrete vascularized peripheral subepithelial corneal opacifications were present bilaterally in both patients with focal dermal hypoplasia. No ocular abnormalities that would predispose to these abnormalities were found. These corneal lesions appear to represent an unusual manifestation of focal dermal hypoplasia.
To clarify the relationship between neural crest cells and various developmental eye abnormalities, pregnant mice were administered an intraperitoneal injection of 12.5 mg/kg retinoic acid (RA) suspended in corn oil on day 7 of pregnancy (RA group). Control mice received an equal volume of corn oil only (control group). The fetuses were removed by laparotomy on day 18 of gestation. The fetal mortality was 46.3% in the RA group and 2.2% in the control group. The live fetuses in both groups were observed grossly, and the eyes were examined histologically in serial sections. In the RA group, gross malformations were observed, including microphthalmos (95.5%), cleft lip and palate (36.4%), and central nervous system anomalies (31.8%). In the control group, these malformations were seen in only 6.7%, 0%, and 2.2%, respectively. Histologic examinations in the RA group revealed microphthalmos (47.7%), anophthalmos (38.6%), faulty closure of the embryonic fissure (36.4%), developmental abnormalities of the vitreous (34.1%), aphakia (22.7%), goniodysgenesis (18.2%), and faulty separation of the lens vesicle (15.9%). They were detected in only 3.3%, 1.1%, 3.3%, 8.9%, 1.l%, 2.2%, and 2.2%, respectively, of the control group. These developmental eye abnormalities arose from abnormal migration of neural crest cells.
Paralytic ectropion of the lower eyelid and increased curvature of the lower eyelid associated with anophthalmos both cn be optimally treated by use of an autogenous fascia lata sling. Some patients also have problems with prosthesis retention due to lower eyelid deformity with a shortened inferior fornix. In some instances, it is also necessary to perform a horizontal shortening operation on the lower eyelid. In anophthalmic patients, the relationship between prosthesis size and weight and a sagging lower lid is discussed. In some patients when the lower eyelid is elevated, the patient then has an upper lid ptosis for which it is necessary to perform an appropriate levator shortening operation. Surgical technique and illustrative pre- and post-operative photographs are shown.
Superior sulcus deformity is a late sequela of surgical anophthalmos. Many methods have been proposed to treat this difficult problem. A technique using autogenous costal cartilage that has resulted in satisfactory repair is presented. In addition to standard photographs and exophthalmometry measurements to follow these patients, a specific device to accurately measure orbital volume gain after operation was fashioned.
A retrospective review of preoperative findings and postoperative results of conjunctival cul-de-sac fixation surgery performed on 12 patients with acquired anophthalmos and an inadequate inferior conjunctival cul-de-sac was performed. Patients with inadequate conjunctiva or other subconjunctival cicatricial shortening of the inferior cul-de-sac were not suitable candidates for conjunctival cul-de-sac fixation surgery and therefore were excluded from this retrospective study. Only those patients with adequate conjunctiva and loss of inferior cul-de-sac fixation to the lower eyelid retractor complex were selected. Clinical evaluation and theoretical anatomical analysis of this group preoperatively suggested that the absent inferior conjunctival cul-de-sac fixation could allow the intraconal orbital fat to migrate anteriorly, compromising the inferior fornix and prolapsing the conjunctiva of the cul-de-sac superiorly. Surgical correction required direct fixation of the conjunctival cul-de-sac to the periosteum immediately posterior to the inferior orbital rim. No externalized sutures or stents were needed to recreate the inferior conjunctival cul-de-sac. All 12 patients had improved ability to retain a prosthetic eye postoperatively. However, two patients had minimal postoperative lower eyelid retraction and an additional two patients had minimal lower eyelid entropion after surgery. Secondary surgery was not required in any patient.
PURPOSE: Our purpose was to evaluate the effect of increased orbital soft tissue volume on orbital growth. METHOD: Patients with unilateral or significantly asymmetric bilateral buphthalmos as determined by axial computed tomography scan were recruited. Volumetric determinations of the bony orbit with use of axial 1.5 mm sections on computed tomography were undertaken. Statistical analysis of the paired ocular length measurement and bony orbital volume measurements for each patient were performed. RESULTS: Eight patients (mean age 41 months) with a 15% or greater difference in axial length were enrolled. The mean axial length of the buphthalmic globes was 23% greater than that of the contralateral globes. Orbits harboring a buphthalmic globe had an orbital volume 11% greater than on the contralateral side. CONCLUSION: Increased orbital soft tissue volume as evidenced by buphthalmos was significantly associated with enlarged bony orbital volume. This indicates that soft tissue volume is a determinant of orbital volume and suggests that orbital tissue expanders might enhance bony development in patients with anophthalmos or microphthalmos and after early enucleation.
Congenital malformations of the eye and its adnexa which are multiple and varied can affect the whole eyeball or any part of it, as well as the orbit, eyelids, lacrimal ducts, extra-ocular muscles and conjunctiva. A classification of these malformations is presented together with the general principles of treatment, age of operating and surgical tactics. The authors give some examples of the anatomo-clinical forms, eyelid malformations such as entropion, ectropion, ptosis, levator eyelid retraction, medial canthus malposition, congenital eyelid colobomas, and congenital orbital abnormalities (Craniofacial stenosis, orbital plagiocephalies, hypertelorism, anophthalmos, microphthalmos and cryptophthalmos).
It is estimated that at least 200,000 children in India have severe visual impairment or blindness and approximately 15,000 are in schools for the blind. Although this represents a small percentage of the estimated 5 million blind in India, it is significant in terms of 'blind-years'. Strategies to combat childhood blindness require accurate data on the causes to allocate resources to appropriate preventive and curative services. Since socio-economic factors vary in different areas of this industrializing country data should be representative of the country as a whole. This is the first multi-state study to be undertaken in India using the Record for Children with Blindness and Low Vision from the World Health Organization/PBL Programme. A total of 1411 children in 22 schools from nine states in different geographical zones were examined by an ophthalmologist and optometrist. Of these, 1318 children were severely visually impaired or blind (SVI/BL). The major causes of SVI/BL in this study were: (1) corneal staphyloma, scar and phthisis bulbi (mainly attributable to vitamin A deficiency) in 26.4%; (2) microphthalmos, anophthalmos and coloboma in 20.7%; (3) retinal dystrophies and albinism in 19.3%; and (4) cataract, uncorrected aphakia and amblyopia in 12.3%. This mixed pattern of causes lies in an intermediate position between the patterns seen in developing countries and those seen in industrialised countries. The causes identified indicate the importance both of preventive public health strategies and of specialist paediatric ophthalmic and optical services in the management of childhood blindness in India.
Four children are presented and their eye malformations described. One girl had bilateral anophthalmos, a boy and a girl had bilateral severe microphthalmos, and a boy had a unilateral optic disc coloboma. The mothers of all for children were treated with carbamazepine during pregnancy. The teratogenic effect of carbamazepine and its likely role in the genesis of the eye malformations is discussed.
A girl manifesting a false median cleft lip associated with hypertelorism, anophthalmos, hydranencephaly with holoprosencephaly, and osteogenesis imperfecta, among other disorders, survived and was fed mainly milk products up to the age of 11. Then, surgical closure of the false median cleft lip was undertaken to improve the face aesthetically and to make the child more acceptable to society at large. The patient's median cerebrofacial dysgenesis with other anomalies was unique, compared with disorders reported in the literature. The embryological distinction between a false and true median cleft lip is also discussed.
The technique of subperiosteal implantation of multiple, small glass beads for correction of enophthalmos associated with anophthalmos was first described in 1967. Reported complications of this procedure include ptosis, anesthesia of the distribution of the supraorbital or infraorbital nerve, and migration of the implants into the orbit or sinuses. A case of orbital cellulitis has been reported. We now report a case in which the extremely serious complication of intracranial migration of glass bead implants, with subsequent cerebrospinal fluid leak, occurred 17 years postimplantation.
Free autogenous "pearl fat" grafts of 5-6 mm in diameter are used as a method of soft tissue augmentation for the eyelid. This method is useful in restoring eyelid contour defects, separating the eyelid lamella to lower the upper eyelid crease, and augmenting eyelids in anophthalmos. Graft survival is variable and pretreatment of fat with insulin is used in an attempt to prolong fat survival. The rationale, indications, and surgical procedure are discussed.
A wide variety of complications of the anophthalmic socket develop in patients after enucleation, including enophthalmos, superior sulcus deformities, eyelid malpositions, implant migration and extrusion, poor prosthetic motility, and socket contraction. Changes in the orbital blood flow and metabolic activity of the socket tissues and atrophy of the orbital fat occurring after enucleation have been suggested as two theoretical mechanisms that result in the development of these clinical conditions. Lack of scientific evidence and a limited understanding of the pathophysiologic basis of the features of anophthalmos led us to evaluate the validity of these proposed mechanisms in an animal model. Selected parameters of the normal orbits were compared with the contralateral anophthalmic orbits at different time intervals after surgery. Orbital blood flow was studied with selective ophthalmic artery angiography and radioactive microsphere techniques. Ophthalmic arteriography demonstrated symmetric caliber and filling characteristics of the major orbital vessels of the control and experimental orbits, although their topographic course was slightly more tortuous in the anophthalmic socket. Results of radioactive microsphere analysis of capillary blood flow per weight of the different orbital tissue compartments of the animals in the long-term group showed no significant difference between the normal and anophthalmic sockets. These findings provide evidence that the circulation dynamics and blood flow to orbital tissues do not change after enucleation surgery.
The pathophysiologic mechanisms responsible for the clinical features of the anophthalmic socket are poorly understood. Atrophy of orbital fat has been thought to be a major contributing cause of enophthalmos and the superior sulcus deformities that develop after enucleation, but it has never been demonstrated histopathologically or confirmed by scientific analysis. This study was undertaken to investigate the changes that occur in the orbital fat compartment of the anophthalmic socket in an animal model by measuring orbital soft tissue mass and evaluating adipocyte cell size. Instead of reduction in the tissue mass, a statistically significant greater weight of the fat and connective tissue compartment was found in the anophthalmic orbit by nearly 13% compared to the control orbit in the animals in the long-term group. No significant change in the mean maximal diameter of adipocytes developed 7 months after enucleation. These analyses do not support the concept that orbital fat atrophy or a reduction of metabolic activity occurs in the anophthalmic socket in this animal model. From these results and our previous findings that the circulation dynamics and blood flow to orbital tissues do not change after enucleation, we propose that the pathophysiologic basis of the problems associated with anophthalmos is a disturbance in the spatial architecture and interrelationships of the multiple tissue components of the orbit, not a change in the orbital blood flow or development of fat atrophy.
Polytetrafluoroethylene (PTFE) is a synthetic, woven, nonabsorbable, nonantigenic, Teflon-related material that has been shown to be useful in correcting eyelid retraction and as an implant enveloping material in primary and secondary surgery to correct anophthalmos. Implanted PTFE will extrude if not entirely covered with a layer of conjunctival epithelium. In vitro studies demonstrated that coating PTFE with collagen, fibronectin, gelatin, or laminin promotes epithelial cell and fibroblast migration over and adherence to PTFE. In vivo studies showed that a coating of type 1 collagen is most successful in preventing graft extrusion by promoting conjunctival epithelial attachment and growth over exposed PTFE. Further studies are needed to determine the optimum PTFE coating and pore size needed to ensure the consistent retention of uncovered implanted PTFE grafts.
Porous high-density polyethylene implants have become well accepted for the repair of orbital wall fractures, delayed orbital reconstruction, orbital rim and malar bony onlay augmentation, and volume replacement as orbital spherical implants for the treatment of anophthalmos. Medpor (Porex Surgical, Inc. College Park, GA) is a commercially available porous high-density polyethylene product available in sheets, blocks, Flexblocks, several onlay contour shapes, spheres, and custom implants. Recently, the motility coupling post was introduced to provide an integrated Medpor spherical implant with enhanced prosthetic motility. Medpor implants possess several advantages over hydroxyapatite implants.