1/4. Clinical and ultrastructural features of a novel hereditary anterior segment dysgenesis.OBJECTIVE: To describe the clinical, histopathologic, and hereditary features of a novel familial anterior segment dysgenesis. DESIGN: Prospective, observational case series and interventional case report. PARTICIPANTS: Ten individuals from three generations of a single family with iris and corneal abnormalities associated with congenital cataracts. MAIN OUTCOME MEASURES: An ophthalmic evaluation including slit-lamp examination, corneal topography, pachymetry, and specular biomicroscopy of all family members, and histopathologic and ultrastructural evaluation of one excised corneal button. RESULTS: The proband was an 81-year-old man with bilateral aphakia and diffuse corneal haze, and thinning associated with corneal guttae. His pupils were small, mildly eccentric, and difficult to dilate. Pachymeter readings were 335 microm (right eye) and 330 microm (left eye). Topography confirmed advanced steepening of both corneas. light microscopic and transmission electron microscopic examinations of the corneal button revealed an attenuated endothelium with prominent intracellular random aggregates of small-diameter filaments staining positively for cytokeratin. Descemet's membrane was thickened and had marked posterior nodularity. Various-sized polymorphic vacuoles containing layered electron-dense material were present within and between collagen lamellae and within keratocytes throughout the stroma and Bowman's membrane. Secondary bullous changes of the epithelium with thickening of the basement membrane were also observed. The family pedigree demonstrated an autosomal dominant inheritance pattern. CONCLUSIONS: This constellation of autosomal dominantly inherited corneal endothelial and stromal disorder, with congenital cataracts and iris abnormalities, represents a novel anterior segment disorder. Its etiology may involve an abnormal migration of the secondary mesenchyme.- - - - - - - - - - ranking = 1keywords = aphakia (Clic here for more details about this article) |
2/4. Bilateral Artisan lens for aphakia and megalocornea: Long-term follow-up.We received approval from the U.S. implant food and Drug Administration and the University's Institutional review Board to the Artisan lens (Ophtec BV) in both eyes of a patient who was aphakic and had megalocornea. No other intraocular lens would easily solve this patient's need because of the large anterior segment. The patient was having increasing difficulty with aphakic contact lenses because of his work environment. We present almost 5 years of follow-up data of this patient.- - - - - - - - - - ranking = 4keywords = aphakia (Clic here for more details about this article) |
3/4. Secondary surgical procedures after epikeratophakia.Five patients required secondary surgical procedures after receiving epikeratophakia grafts. A neonate underwent epikeratophakia in combination with extracapsular cataract extraction, followed one week later by peripheral iridectomy and nine months later by strabismus surgery. A 53-year-old male had surgery to correct retinal detachment 4-1/2 months after epikeratophakia surgery for the correction of aphakia. A five-year-old male had epikeratophakia after removal of a traumatic cataract; five weeks later, retinal detachment necessitated vitrectomy, 360 degrees buckle, and cyclocryotherapy. A 4-1/2-year-old female had epikeratophakia for aphakia, followed nine months later by strabismus surgery. A 38-year-old female with keratoconus received a plano epikeratophakia graft, in combination with an extracapsular cataract extraction and anterior vitrectomy, followed two weeks later by an Ocutome vitrectomy. In all cases, the epikeratophakia grafts and interfaces remained clear, and in four of the five patients in whom secondary procedures were successful, vision continued to improve with time.- - - - - - - - - - ranking = 2keywords = aphakia (Clic here for more details about this article) |
4/4. Congenital aphakia: a clinicopathologic report of three cases.BACKGROUND: Congenital aphakia is a rare condition that has been classified as primary when no lens induction of the surface ectoderm occurs and secondary when lens development takes place but later is resorbed or expelled in utero. methods: The authors report the clinical and pathologic findings in three infants with congenital aphakia whose eyes were enucleated either at surgery at 11 months or at autopsy after 1 and 3 days of life. RESULTS: Two cases classified as primary congenital aphakia had severe microphthalmos, anterior segment aplasia, or anomalous development and posterior choroidal and optic disc colobomas. One was in a case believed to be Waardenburg's recessive anophthalmia syndrome and the other had 18 trisomy. A case of secondary congenital aphakia had findings of Peter's syndrome and features suggesting rubella, which had been observed in some previous reports. CONCLUSIONS: Primary congenital aphakia can result from a variety of teratogenic events in the first 4 weeks of embryogenesis and results in microphthalmos and severe anterior segment aplasia/dysplasia. Secondary congenital aphakia is associated with less severe ocular anomalies. The possible role of deletion or mutation involving the PAX6 gene in anterior segment anomalies and induction of lens development is discussed. In addition to chromosomal influences, in utero viral infection, particularly rubella, may play a role in some cases.- - - - - - - - - - ranking = 10keywords = aphakia (Clic here for more details about this article) |