1/86. Hamartomas of the iris and ciliary epithelium in tuberous sclerosis complex.Astrocytic hamartomas of the retina are the principal ocular manifestation of tuberous sclerosis complex. iris abnormalities are rare in tuberous sclerosis complex and include focal areas of stromal depigmentation and atypical colobomata. We describe 2 patients who were found on histopathological examination to have lesions consistent with hamartomas of the iris pigment epithelium and ciliary body epithelium. iris abnormalities, including pupillary irregularities, were noted on clinical examination prior to the development of iris neovascularization in both patients. These observations suggest that iris abnormalities, including atypical colobomas, may be caused by hamartomas of the iris pigment epithelium and ciliary epithelium in some patients with tuberous sclerosis complex. To our knowledge, hamartomas of tissues derived from the anterior part of the neuroectodermal optic cup have not been reported in cases of tuberous sclerosis complex.- - - - - - - - - - ranking = 1keywords = iris (Clic here for more details about this article) |
2/86. Colobomatous microphthalmia, microcephaly with cerebellar hypoplasia: association or new syndrome?We report on a 3.5-year-old girl with microcephaly, microphthalmia, coloboma of the iris, mild developmental delay, and other minor anomalies. neuroimaging showed marked cerebellar and vermian hypoplasia. This condition has not been described previously and is discussed in the context of the "micro syndrome," together with other similar syndromes. Our case highlights the heterogeneity of the "microphthalmia plus brain malformations" group of patients.- - - - - - - - - - ranking = 0.125keywords = iris (Clic here for more details about this article) |
3/86. Suppressor cell activity in a male infant with T-and B-lymphocyte dysfunction treated with thymosin.A male infant with bilateral iris coloboma who had had repeated infections and malabsorption was studied. The levels of total lymphocytes and of T and B cells were normal or high, but IgA became undectable and IgG low, whereas IgM was normal. His lymphocytes did not respond to phytohemagglutinin (PHA), concanavalin a, pokeweed mitogen (PWM) or in mixed lymphocyte reactions (MLR), nor did they respond in vitro when thymosin was included in the test systems. He was skin-test-negative, even to dinitrochlorobenzene. His crudely isolated T lymphocytes and the supernatant of his PHA-stimulated lymphocytes inhibit the response of normal lymphocytes to PHA, PWM, and in MLR. During thymosin treatment skin test and lymphocyte reactivity to mitogen remained negative. He became faintly positive in MLR, and the suppressor activity in the supernatant of his PHA-stimulated lymphocytes no longer inhibited the response of normal lymphocytes to PHA, PWM, or in MLR. In parallel with thymosin treatment he showed quite marked clinical improvement.- - - - - - - - - - ranking = 0.125keywords = iris (Clic here for more details about this article) |
4/86. Phenotypic variability of Cat-eye syndrome.Cat-eye syndrome (CES) is a disorder with a variable pattern of multiple congenital anomalies of which coloboma of the iris and anal atresia are the best known. CES is cytogenetically characterised by the presence of an extra bisatellited marker chromosome, which represents an inverted dicentric duplication of a part of chromosome 22 (inv dup(22)). We report on three CES-patients who carry an inv dup(22) diagnosed with FISH studies. They show remarkable phenotypic variability. The cause of this variability is unknown. Furthermore, we review clinical features of 71 reported patients. Only 41% of the CES-patients have the combination of iris coloboma, anal anomalies and pre-auricular anomalies. Therefore, almost 60% of the CES-patients are hard to recognize by their phenotype alone. Mild to moderate mental retardation was found in 32% (16/50) of the cases. Mental retardation occurs more frequently in male CES-patients. There is no apparent phenotypic difference between mentally retarded and mentally normal CES-patients.- - - - - - - - - - ranking = 0.25keywords = iris (Clic here for more details about this article) |
5/86. De novo ring chromosome 3 in a girl with hypoplastic thumb and coloboma of iris.We describe a female child with a ring chromosome 3, found after investigation for short stature. Her karyotype was 46,XX,r(3)(p26-q29). Her phenotype mainly differs from that of the nine patients previously reported with ring chromosome 3, by the presence of hypoplastic right thumb and bilateral coloboma of the iris.- - - - - - - - - - ranking = 0.625keywords = iris (Clic here for more details about this article) |
6/86. iris neovascularization in children as a manifestation of underlying medulloepithelioma.PURPOSE: To report the occurrence of unilateral iris neovascularization in children secondary to medulloepithelioma. methods: Presenting features and the clinical course of patients confirmed to have medulloepithelioma were reviewed. RESULTS: Seven patients with medulloepithelioma had iris neovascularization during the clinical course. Associated cataract and lens coloboma occurred in two and three cases, respectively. In six (86%) cases, no apparent cause for iris neovascularization could be detected at presentation. Two cases had tube shunts for management of neovascular glaucoma before medulloepithelioma was recognized. All cases eventually required enucleation. CONCLUSION: Presence of iris neovascularization is an early manifestation of medulloepithelioma. Children with iris neovascularization of unknown cause should be evaluated to exclude underlying medulloepithelioma.- - - - - - - - - - ranking = 0.625keywords = iris (Clic here for more details about this article) |
7/86. Encephalocraniocutaneous lipomatosis associated with iris coloboma, chorioretinitis and spinal cord involvement: a case report.A 9-year-old boy with a history of lipoma excision and laminectomy at the Th10-11 levels, resulting in incomplete paraparesis and neurogenic bladder, was admitted for a comprehensive rehabilitation programme. physical examination revealed an ipsilateral focal dermal hypoplastic defect within an area of alopecia and a subcutaneous lipomatous tissue on the left temporo-parietal region of the scalp. iris coloboma and chorioretinitis were diagnosed on the left eye. He also had mild mental retardation and triparesis. magnetic resonance imaging of the brain and the spine demonstrated hyperintense masses which were consistent with lipoma. Although in the literature three cases of encephalocraniocutaneous lipomatosis (ECCL) concomitant with spinal cord involvement have been reported, to our knowledge iris coloboma and chorioretinitis in ECCL have not been reported previously. In conclusion, we would like to stress that aside from known ophthalmological malformations, iris coloboma and chorioretinitis may also be observed in ECCL and that all patients who have been diagnosed as having ECCL should be examined for spinal cord involvement.- - - - - - - - - - ranking = 0.75keywords = iris (Clic here for more details about this article) |
8/86. Five cases of microphthalmia with other ocular malformations.We report five cases of complex microphthalmia with other ocular malformations in infants or children, which were evaluated to investigate the relationship between the corneal diameters and total axial length. The size of the globe was measured by using computerized tomographic scans (CT scan), A-scan ultrasonography, or magnetic resonance imaging (MRI). There is a limited range of well-described malformation, including anterior or posterior segment dysgenesis or combined pathology such as corneal opacity, small cornea, iris hypoplasia, lens dislocation, cataract, chorioretinal coloboma, persistent hyperplastic primary vitreous (PHPV), retinal dysplasia, and intraocular tumor. Corneal diameters were correlated significantly with total axial length (r2 = 0.88) and decreased linearly as the total axial length decreased in these cases. However, there was no relationship seen between the total axial length and posterior segment length (r2 = -0.06). The results of this study may aid the clinical ophthalmologist to accurately understand or assess microphthamia combined with other ocular malformations.- - - - - - - - - - ranking = 0.125keywords = iris (Clic here for more details about this article) |
9/86. Proboscis lateralis: a case report.Proboscis lateralis is a rare facial anomaly resulting in incomplete formation of one side of the nose. We report a left-sided proboscis lateralis case of a 9 months old male with left-sided heminasal aplasia, microphthalmi, coloboma iris and retina and an arachnoid cyst in the temporal fossa of the brain. We present the clinical, radiological features of this unusual case.- - - - - - - - - - ranking = 0.125keywords = iris (Clic here for more details about this article) |
10/86. Mild Noonan phenotype associated with coloboma of the iris and choroid.A 20-year-old Caucasian male with mild Noonan phenotype associated with coloboma of the iris and choroid is described. It is concluded that iris and retinal colobomas could be a rare feature of Noonan sydrome.- - - - - - - - - - ranking = 0.75keywords = iris (Clic here for more details about this article) |
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