1/78. Bilateral abortive cryptophthalmos associated with oculocutaneous albinism.PURPOSE: To document a case of bilateral abortive cryptophthalmos associated with oculocutaneous albinism. methods: We describe a 13-year-old female patient with blond skin and hair who had anomalous face and eyes first noted at birth. RESULTS: The patient had fair hair and complexion, bilateral anomalous wedge of scalp hair, upper eyebrow and eyelid deformities, cup-shaped ears, broad based nose with depressed bridge and midline groove, iris transillumination and diffuse hypopigmentation and foveal hypoplasia in fundus examination. CONCLUSION: Based on the clinical and laboratory findings, the reported case represents tyrosinase-positive oculocutaneous albinism together with bilateral abortive cryptophthalmos. The oculocutaneous albinism can either be an entirely new criterion to the whole syndrome of cryptophthalmos, or, more probably, the condition can be due to a double affliction which is primarily related with consanguinity of the parents. The importance of ante-natal diagnosis and genetic counseling are emphasized in such cases where the two recessive genes for two different conditions coexist.- - - - - - - - - - ranking = 1keywords = iris (Clic here for more details about this article) |
2/78. Rieger's syndrome: (oligodontia and primary mesodermal dysgenesis of the iris) clinical features and report of an isolated case.An 11-year-old female manifested bilateral prominent Schwalbe's line, iridal adhesions, displaced and irregular pupils. She had no evidence of juvenile glaucoma. The major nonocular finding in this patient was the congenital absence of her primary and permanent maxillary central and lateral incisors. Although missing or malformed teeth may occur in other conditions such as Down's syndrome, focal dermal hypoplasia syndrome, anhidrotic ectodermal dysplasia, chondroectodermal dysplasia, and incontinentia pigmenti, the clinician should include Rieger's syndrome in his differential diagnosis in patients with oligodontia in combination with malformation of the anterior chamber of the eye. Rieger's syndrome is a rare condition characterized by ocular and dental abnormalities, namely mesoectodermal dysgenesis of the iris and cornea of the eyes and hypodontia of the dentition. This report presents a sporadic case of Rieger's syndrome in an 11-year-old female and discusses the pertinent clinical features of this condition.- - - - - - - - - - ranking = 5keywords = iris (Clic here for more details about this article) |
3/78. Incising the thick retrolental fibrovascular tissue with a hooked sclerotome in persistent hyperplastic primary vitreous.A technique for incising thick retrolental fibrovascular tissue and extensive cyclitic membrane is reported in a case of anterior persistent hyperplastic primary vitreous. A membranectomy was performed in a 1-month-old post-lensectomy baby via a limbal approach. A sclerotome tip was hooked to cut through an extremely thick fibrovascular tissue by rotating the sclerotome by its grip. Sutherland microscissors (Grieshaber, switzerland) and a vitrectomy cutter were used for further membranectomy. The baby was followed-up until age 18 months. A total of 3 membranectomy sessions were required because of rapid cyclitic membrane formation, severe centripetal retraction of the membrane on the ciliary processes, and posterior synechia. Thorough membranectomy and cutting the iris edge maintained a clear pupillary area during the 13-month postoperative period. Extremely thick retrolental fibrovascular tissue is a challenging condition that can be dealt with by delicate instrumentation.- - - - - - - - - - ranking = 1keywords = iris (Clic here for more details about this article) |
4/78. Atrial septal defect with interatrial aneurysm and Axenfeld-Rieger syndrome.PURPOSE: The aim of this presentation is to report a rare association between interatrial aneurysm and Axenfeld-Rieger syndrome. methods: We present a 20-year-old girl with Axenfeld-Rieger syndrome, in whom the diagnosis was confirmed by the facial dysmorphic appearance, slit-lamp examination, applanation tonometer, gonioscopy, and cardiovascular examination. RESULTS: The patient had prominent Schwalbe's line in all quadrants, iris atrophy, and secondary glaucoma in both eyes. The echocardiogram revealed an atrial septal defect with interatrial aneurysm. CONCLUSION: This is the first case report of coexisting Axenfeld-Rieger syndrome and interatrial aneurysm. We would like to stress that aneurysm can be a potential occult source of cerebral embolism.- - - - - - - - - - ranking = 1keywords = iris (Clic here for more details about this article) |
5/78. Congenital nonprogressive facial hemiatrophy with ipsilateral eye abnormalities and juvenile glaucoma.Congenital nonprogressive facial hemiatrophy is reported in association with anisometropia and ipsilateral cornea, iris, angle abnormalities, and juvenile glaucoma. The importance of complete ocular examination in patients with this uncommon abnormality is emphasized.- - - - - - - - - - ranking = 1keywords = iris (Clic here for more details about this article) |
6/78. Unilateral glaucoma in sotos syndrome (cerebral gigantism).PURPOSE: To report a patient with unilateral glaucoma associated with sotos syndrome. sotos syndrome (cerebral gigantism) is a disorder of growth and development with characteristic facial changes and normal endocrine function. Ocular manifestations may also include megalocornea, iris hypoplasia, cataracts, megalophthalmos, strabismus, nystagmus, and retinal dystrophy. methods: Case report. A 50 year-old man with the clinical features of sotos syndrome presented with complaints of decreased vision in the left eye. RESULTS: Ophthalmologic examination revealed bilateral megalocornea, megalophthalmos, iris hypoplasia and transillumination defects, cataracts, and unilateral glaucoma. intraocular pressure was lowered, and visual field loss was stabilized with topical medications. CONCLUSION: sotos syndrome patients should be examined routinely to allow for early detection and treatment of potential ocular problems, including glaucoma.- - - - - - - - - - ranking = 2keywords = iris (Clic here for more details about this article) |
7/78. Type a syndrome of insulin resistance: anterior chamber anomalies of the eye and effects of insulin-like growth factor-I on the retina.BACKGROUND: The purpose of this work was to describe the anterior chamber and iris anomalies as well as to evaluate the effects of recombinant human insulin-like growth factor-I (rhIGF-I) on the retinal vessels in 2 diabetic patients with type A syndrome of insulin resistance, a rare condition associated with acanthosis nigricans. methods: Ophthalmologic examinations, including photographs and fluorescein angiograms, were performed before, and 2 and 4 weeks after starting subcutaneous rhIGF-I treatment, and 3 months after withdrawal of rhIGF-I treatment. RESULTS: Both patients had goniodysgenesis with mild elevation of the intraocular pressure. Before and after 2 weeks of treatment with rhIGF-I, the fundus and the fluorescein angiograms were mainly normal. After 4 weeks of rhIGF-I treatment both patients' retinas revealed leakage of fluorescein. Three (case 1) and 4 months (case 2) after withdrawal of rhIGF-I, the fundus of all four eyes were again without leakage. CONCLUSIONS: The anterior chamber anomalies found in these patients may be part of the type A syndrome of insulin resistance and could alert clinicians that these patients might not have the usual type of diabetes. Moreover, the data show that exogenous rhIGF-I administration in patients with type A syndrome of insulin resistance alters the permeability of the superficial layer of retinal capillaries which is comparable to the earliest angiographic changes in childhood diabetic retinopathy. Whether this is a direct effect of rhIGF-I, as suggested by experiments in an animal model, or an indirect effect due to the near-normalization of the glucose levels by rhIGF-I warrants further investigations. Finally, this work points to an important caveat regarding the therapeutic use of rhIGF-I in this patient population.- - - - - - - - - - ranking = 1keywords = iris (Clic here for more details about this article) |
8/78. keratoconus and Fuchs' heterochromic iridocyclitis: a coincidence or a defect during embryogenesis?PURPOSE: We aimed to discuss the possible role of developmental embryologic factors in neural crest cells in the aetiology of keratoconus and Fuchs' heterochromic iridocyclitis by presenting this case. CASE REPORT: We diagnosed bilateral keratoconus and unilateral Fuchs' heterochromic iridocyclitis in a 19 year old women complaining of progressively blurring vision in her left eye. We also examined most of her first and second degree relatives. One niece had FHI in addition to a choroidal nevus in the inferior temporal quadrant of her left eye. DISCUSSION: Regarding the common embryological origins of iris stroma, uveal melanocytes and corneal stroma, it might be worth considering that the combination of FHI and keratoconus is not coincidental. A role of embryologic factors in neural crest cells in the etiology of both diseases cannot be excluded.- - - - - - - - - - ranking = 1keywords = iris (Clic here for more details about this article) |
9/78. Rieger syndrome is associated with PAX6 deletion.PURPOSE: Rieger syndrome is an autosomal dominant condition defined by anterior segment dysgenesis in combination with facial, dental, skeletal and umbilical abnormalities. To date Rieger syndrome has been associated with mutations in the PITX2 gene at chromosome 4q25 and a second locus has been found at chromosome 13q14. methods: We describe a Rieger syndrome case with all the typical dysmorphic features and the molecular genetic finding by use of FISH analysis of the PAX6 gene. RESULTS: An eight-year-old girl had iris stroma hypoplasia, corectopia and iridogoniodysgenesis. She had an underdeveloped premaxilla and a congenital absence of nine teeth in the maxilla. The front teeth in the mandible were peg-shaped and all teeth were small. There was failure of involution of the periumbilical skin. FISH analysis using probes for the PAX6 gene showed a small deletion for the PAX6 gene on one homologue of chromosome 11. CONCLUSION: Rieger syndrome can -- in addition to PITX2 gene mutations and abnormalities at chromosome 13q14 -- be associated with PAX6 gene abnormalities.- - - - - - - - - - ranking = 1keywords = iris (Clic here for more details about this article) |
10/78. Vascular anastomoses between the iris and persistent hyperplastic primary vitreous.Prominent radial iris blood vessels created small but definite pupillary notches in five children with persistent hyperplastic primary vitreous and persistence of the tunica vasculosa lentis. Detection of these abnormal iris vessels suggested the presence of persistent hyperplastic primary vitreous and related syndromes even when the diagnosis was obscured by the presence of an opaque lens. These vessels represented early developmental arrest and may have been associated with abnormal development of the macula and optic nerve. Surgical and amblyopia therapy, therefore, may not provide useful vision, and should be undertaken with caution.- - - - - - - - - - ranking = 6keywords = iris (Clic here for more details about this article) |
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