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An unusual sibship is described of a spectrum of microphthalmos associated with various degrees of anterior segment mesodermal dysgenesis ranging from partial sclerocornea to congenital anterior staphyloma. The possible embryologic significance of these anomalies manifesting together are discussed, along with the visual benefits which are sometimes surprisingly attainable in these usually hopeless eyes.
We present two cases of microphthalmos with cyst affecting monozygotic twins. The etiology and pathogenesis of this developmental anomaly are discussed. The diagnostic evaluation, differential diagnoses, and management options of this unique disorder are also considered.
In congenital microphthalmos and anophthalmos, the socket and lids are often underdeveloped. Progressive dilation of the socket often does not increase the horizontal lid aperture or permit the use of a larger prosthesis. The authors present two cases in which a modified Mustarde cheek flap, lined with a tarsal-conjunctival graft, was used to reconstruct and lengthen the lower lid. This procedure results in a larger horizontal lid aperture and permits a larger prosthesis to be contained in the socket.
A 6-month-old girl came to the hospital with swelling of the right lower eyelid, exophthalmos, chemosis and upward deviation of the eyeball--all of which had been present since birth. Iris, optic disc, and chorioretinal coloboma were also apparent. Magnetic resonance imaging revealed a small globe with a large cystic lesion in the orbit of the right eye. Pre- and post-operative photographs and magnetic resonance imaging indicated a safe, simple single orbital aspiration as an alternative treatment for mild microphthalmos with an orbital cyst.
Early socket stimulation is crucial for management of congenital anophthalmos and microphthalmos among infants. Progressive sized hard conformers and lid expansion devices can expand the small socket in these patients. The ocularists' management of these two conditions is discussed and techniques are introduced.
In patients with congenital anophthalmos and severe microphthalmos, a tiny orbit and socket exist with little eyelids, frequently preventing retention of a standard conformer or prosthesis. Socket expansion is sometimes impossible with microorbitism; the retention of a prosthesis is also difficult when malformations of the eyelids exist. The treatment of these difficult cases includes three stages. The first stage is orbital expansion that depends on the cephalometric studies of the patient: transverse osteotomy on the maxilla and the zygomatic bone with lateral bar by extracranial route, vertical osteotomy on the roof of the orbit by intracranial route. In some cases, the osteotomy includes expansion in the transverse and vertical diameter with bone grafts in the defects and on the lateral and superior rims. Simultaneously, socket expansion is performed by incision of the conjunctival sac circumferentially, with mucosal or split skin grafts on a conformer. The second stage includes eyelid reconstruction by different flaps. A third stage is frequently needed for correction of eyelid malposition on the prosthesis: ptosis, entropion surgery. Two cases of congenital anophthalmos are reported. Methods and indications of treatment are discussed.
Changes in the eyeball size were investigated in rats treated with monosodium glutamate (MSG) during the neonatal period. Correlations among ocular size and degenerative changes of the retina and optic nerve were also studied ophthalmoscopically and histologically. Rats received MSG 5 times, 2 times or once. In rats which received MSG 5 times, the administration was made at 1, 3, 5, 7 and 9 days of birth. In rats, which received MSG 2 times, the administration was made on 2 subsequent days (1 and 2, 3 and 4, 5 and 6, 7 and 8, 9 and 10, 12 and 13 or 15 and 16 postnatal days). In the group of rats, which received MSG once, the administration was made on each from the 1st to the 15th postnatal day. Microphthalmos formation was clearly observed only in rats with 5 times and 2 times (9 and 10 days) injection of MSG. In these rats, narrowing of retinal vessels, paleness and excavation of optic disks were observed ophthalmoscopically. Total liquefaction of the vitreous body were seen in the same groups. Histological examinations also revealed degeneration of the inner layers of the retina. These findings indicated that the administration of MSG at critical stages during postnatal development induces disturbances of eyeball growth. It was also suggested that the growth of the eyeball is closely associated with the postnatal development of the retina.
An unusual case is described of multiple congenital facial anomalies, including proboscis lateralis, microphthalmos, and cystic degeneration of the optic nerve. This child's condition did not seem to fall into a previously described classification.
Colobomatous orbital cyst with microphthalmos is an anomaly of the orbital contents occurring during embryogenesis. In this study, we report the case of a 3 year-old child referred with the initial diagnosis of voluminous orbital angioma. Radiological investigations and histological study of the ablated mass established the correct diagnosis of colobomatous cyst. Pathogeny, diagnostic and therapeutic problems are discussed.
Six-year-old girl presents unilateral moderate microphthalmos. After enucleation ocular histopathological exam shows multiple ocular structures anomalies at both anterior and posterior poles; the most important anomalies were localised at the level of retina, vitreous, and iridocorneal angle, and they were represented by retinal dysplasia with giant cells, persistence of the primitive vitreous, congenital cataract, Rieger syndrome.
The clinical and histopathological findings in a case of microphthalmos with orbital cyst is described. The clinical interesting feature of this case was the bilateral coloboma which represented interference in the development of the eye at different stages of embryonic life.
Ophthalmological examinations were carried out on a 4-year old girl and her 2-year-old brother who have had poor visual acuity since birth. A consanguineous relationship was found between the parents. Both children had bilateral microphthalmos, poor visual acuity, high hyperopia, and papillomacular retinal folds. No ocular coloboma or systemic abnormality was found. We believe that the ophthalmic findings in these patients are rare.
Sturge-Weber syndrome is a disorder characterized by ipsilateral cavernous hemangioma of the face, uvea, and brain in patients who may present with an enlarged eye, exudative retinal detachment, glaucoma, and seizures. This report presents the clinicopathologic findings of an otherwise healthy infant with ipsilateral arteriovenous and capillary hemangiomas of the face and uveal tract, microphthalmos, iris heterochromia, hypotony, and absence of central nervous system involvement. The association of an arteriovenous-capillary angioma of the ocular adnexa and ipsilateral uveal tract is a syndrome that is distinct from Sturge-Weber syndrome.
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