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In a consanguineous family of two siblings, both with nanophthalmos, one was found to also have bilateral exfoliation syndrome. This combination of conditions has not, to our knowledge, previously been reported and has not had any apparent negative consequences. Her sister has manifested typical complications of nanophthalmos, including angle-closure glaucoma initially and, eventually, severe uveal effusion after cataract surgery.
Retinal projections, particularly the ipsilateral projections, to the medial terminal nucleus (MTN) of the accessory optic system were investigated by autoradiography in adult rats after being reared in one of three different conditions: (1) normal visual experiences, (2) an application of trypan blue for intrauterine induction of congenital unilateral anophthalmia; and (3) the procedures for intrauterine production of congenital microphthalmia in which both eyes are reduced in size. In congenital monocular rats, there was an increase of uncrossed retinal projections to the MTN which does not normally exist. The expansion of the ipsilateral projection was markedly greater in the monocular rats than those inflicted with microphthalmia. The expansion may be due to the failure of the retraction of the ipsilateral retinal projections to the MTN and the collateral sprouting of optic fibers from the remaining eye.
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Nanophthalmos is a rare, isolated ocular disorder characterized by a small eye and cornea, shallow anterior chamber, narrow angles, and a high lens/eye volume ratio. A 39-year-old patient with nanophthalmos developed glaucoma. He was noted to have a tall, thin body, feminine features, and testicular atrophy.
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The authors report a case of associated bilateral asymmetrical microphthalmia and osseous choristoma of the choroid in a seventeen year old young woman. This association, to the author's knowledge, has not been previously reported in the literature. The bone choristoma was present in the eye's posterior poles and the clinical features were studied by electroretinography, fluorescein angiography, A-B scan ultrasonography, computerized axial tomography and nuclear magnetic resonance. The authors hypothesize that a choroid developmental tumor was produced by exposure to the rubella virus during embryonic life.
The distance between the orbits and their individual dimensions are important in the diagnosis of craniofacial anomalies. Most observers rely on standard radiographs for measuring the bony interorbital distance. Tomography of the skull base and orbital computed tomography (CT) can also be used. This article describes the normal range of the bony interorbital distance and other useful orbital linear and angular measurements as determined from a series of CT scans of the orbits in 400 adults who had CT for other purposes. The normal interorbital distance measured at the posterior border of the frontal processes of the maxilla on nonrotated scans, in the plane of the optic nerve, ranges from 2.29 to 3.21 cm (average, 2.67 cm) in men and 2.29 to 3.20 cm (average, 2.56 cm) in women. The widest interorbital distance lies behind the posterior poles of the globes. This ranges from 3.16 to 4.10 cm (average, 3.37 cm) in men and 2.93 to 3.67 cm (average, 3.20 cm) in women.
The Miwh expression was studied using a genetical marker, acid beta-galactosidase, in 20 day old chimeric mice Miwh/Miwh Bglb/Bglb C/C in equilibrium +/+ Bgld/Bgld C/Ca and Miwh/Miwh Bglb/Bglb C/C in equilibrium +/+ Bgld/Bgld c/c. Three phenotypically new types of the retinal pigment epithelium (RPE) regions were found in the chimeras, which were absent in the RPE of the parental strains. The presence in the chimeras of the RPE regions consisting of pigmented and normally differentiated cells with a high activity of the enzyme suggests the normalization of differentiation of the Miwh/Miwh RPE cells, due, apparently, to the inducing influence of the normal (+/+ C/C) mesenchyme cells. In addition, the presence of nonpigmented, both hyperplasied and nonhyperplasied, RPE regions (+/+ C/C) suggests an insufficient growth-inhibiting influence and the absence of melanogenesis-stimulating activity of defective Miwh/Miwh ectomesenchyme. The histochemical and cytological analysis of the RPE in the obtained chimeras has, thus, shown that the Miwh gene primarily affects ectomesenchyme, which does not exert melanogenesis-stimulating and growth-inhibiting influence on the RPE ensuring its hyperplasia and the absence of pigmentation.
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Both congenital anophthalmia and severe microphthalmia lead to micro-orbit with early appearance of craniofacial hemiatrophy. There is simultaneous lack of development of the lids (which remain small but complete) and of the conjunctival sac. Use of esthetic ocular prosthesis is thus impossible. The conjunctival sac can be dilated with conformators of increasing size but this technique has no effect on the orbit. The results of repeated plastic surgery are unsatisfactory. Stimulation of ocular growth by an expandable prosthesis in early infancy would appear to be the most logical and effective therapy. The authors propose a "new" technique for the expansion of the orbital cavity of the congenital anophthalmia. They have deviced a silicone prosthesis which is progressively expanded in size. The device has now been in use for over eighteen months with really encouraging results (17 cases).
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Severe congenital corneal clouding may be associated with abnormal anterior segment development (dysgenesis). Often, congenital corneal opacities preclude visualization of intraocular anatomy. In this report, five eyes of four patients with congenital corneal clouding and lens-corneal adhesion (LCA) are described. All had a ring- or doughnut-shaped haze within the stroma surrounding a central clear corneal zone delineating the adhesion. Recognition of LCA is pivotal in planning surgical therapy for eyes with congenital corneal clouding. As a clue to recognition of this anomaly, the ring-shaped stromal opacity may aid in diagnosis of this phenomenon and in avoidance of surgical complications.
Acquired cysts represent an unusual but significant complication of orbital dermis-fat grafts. We report two cases of late postoperative enlargement of dermis-fat grafts: First, macrocystic enlargement occurring in both orbits with severe microphthalmia; second, cystic enlargement occurring in a dermis-fat graft for anophthalmia following an earlier evisceration. Both graft enlargements were due to epithelial-lined cysts that developed within the graft tissue. These cysts were treated by excising the cysts walls and allowing the resultant cavity to heal spontaneously. Light microscopy of the excised tissue revealed that the clear cysts were lined by a non-keratinizing, stratified squamous epithelium. The histogenesis of the cysts is unclear, but most likely they are the result of incompletely removed or implanted conjunctival or corneal epithelium. Several other possibilities are discussed. Due to the difficulty of removing all corneal and conjunctival epithelium, cystic complications of dermis-fat grafts make unattractive their use for volume enhancement in patients with microphthalmia or following evisceration.