11/1078. Lowe's syndrome: identification of carriers by lens examination. Lens examinations were performed on 7 obligate and 7 possible carriers of the X-linked gene for Lowe's syndrome, and on 117 controls. By quantitatively grading punctate cortical opacities, it was possible to discriminate between the obligate carriers and the controls with a fair degree of confidence. In the age group most important for genetic counselling, that of child bearing, the data are too limited for the derivation of precise estimates, but may, nevertheless, be useful. More such data are needed. ( info) |
12/1078. Lens opacity after neodymium: YAG laser iridectomy for phakic intraocular lens implantation. We describe a previously unreported complication of a posterior chamber intraocular lens (IOL) implanted in a phakic eye. The left eye of a 25-year-old patient with high myopia was treated prophylactically with neodymium: YAG (Nd: YAG) laser iridotomy prior to phakic IOL implantation. Slitlamp examination of the left eye disclosed an opacity of the anterior capsule of the crystalline lens under the iridotomy site. This case demonstrates a complication associated with Nd:YAG iridotomy prior to implantation of a phakic IOL. ( info) |
13/1078. Surgically induced necrotizing scleritis in a patient with ankylosing spondylitis. We present the case of a 75-year-old man with ankylosing spondylitis who developed surgically induced necrotizing scleritis (SINS) more than 3 years after uneventful extracapsular cataract extraction and posterior chamber intraocular lens implantation. The patient presented with a painful eye and increasing vertical diplopia. To our knowledge, neither the association of SINS and ankylosing spondylitis nor vertical diplopia as its presenting complaint has been described. ( info) |
14/1078. Posterior capsule opacification and wrinkling in a case of capsular bag distension. We describe a complication following anterior neodymium: YAG laser capsulotomy in a case of capsular bag distension which was diagnosed 21 months after cataract extraction with phacoemulsification and in-the-bag lens implantation. An anterior neodymium: YAG capsulotomy was performed and immediately after this the posterior capsule collapsed and wrinkled, causing a marked decrease in visual acuity that necessitated posterior neodymium: YAG capsulotomy. ( info) |
| Wilson's disease, or hepatolenticular degeneration, is a rare inherited disorder of copper metabolism which usually affects young people. Excess copper accumulates in the tissues, primarily in the liver, brain, and cornea. This copper deposition results in a wide range of hepatic and neurological symptoms, and may produce psychiatric illness. Hepatic involvement often occurs in childhood, while neurological deficits generally are detected at a later age. The disease is inherited in an autosomal recessive fashion. Ocular findings are of particular importance because the corneal copper deposition, forming the Kayser-Fleischer ring,is the only pathognomonic sign of the disease. The structure of the ring and the presence of copper have been well established. An anterior capsular deposition of copper in the lens results in a characteristic sunflower cataract in some of these patients. Other ocular abnormalities have been described but are much less common. The pathogenesis of the disease and the basic genetic defect remain obscure. It is clear that there is excess copper in the tissues, but the mechanism of its deposition is unknown. It is in some way associated with a failure to synthesize the serum copper protein ceruloplasmin normally. Another theory suggests that an abnormal protein with a high affinity for copper may bind the metal in the tissues. The diagnosis may be suggested by the clinical manifestations and confirmed by the presence of a Kayser-Fleischer ring. In the absence of these findings biochemical determinations are necessary. The most important of these are the serum ceruloplasmin, the urinary copper, and the hepatic copper concentration on biopsy. Treatment consists in the administration of the copper chelating agent, penicillamine, and the avoidance of a high copper intake. This usually results in marked clinical improvement if irreversible tissue damage has not occurred. maintenance therapy for life is necessary in order to continue the negative copper balance. The detection and prophylactic treatment of asymptomatic individuals with the disease is especially important. Seven cases of Wilson's disease have been presented in order to illustrate many of the features which have been discussed, with emphasis on the ocular findings. ( info) |
16/1078. Vanished twin and fetal alcohol syndrome in the surviving twin. A case report. BACKGROUND: The diagnosis of twin pregnancy can be made early in pregnancy by ultrasonography (US). Follow-up examination occasionally demonstrates the disappearance of one of the twins. CASE: A twin disappeared on US examination; the surviving twin exhibited signs of fetal alcohol syndrome and other congenital anomalies, accompanied by a placental form of fetus papyraceus. CONCLUSION: Early US examination is useful for diagnosing multiple gestation. However, a follow-up examination is required to alert the clinician to the disappearance of one twin. Careful examination of the placenta may document fetal remnants. In this case a small, atretic nodule on the placental surface was evidence of the vanished twin. ( info) |
17/1078. Brachycephalosyndactyly with ptosis, cataract, colobomas, and linear areas of skin depigmentation. A male patient with brachycephalosyndactyly syndrome associated with ocular and skin anomalies is reported and it is suggested that this patient has a previously undescribed disorder. ( info) |
18/1078. cataract extraction and intraocular lens implantation in anterior megalophthalmos. This report describes the implantation of a standard posterior chamber intraocular lens (IOL) in a patient with bilateral cataract and anterior megalophthalmos. After extracapsular cataract extraction, the IOL was sutured to the posterior surface of the iris and anterior capsule. Different types of IOLs were used in each eye, and the surgical technique was adapted to the characteristics of the IOL. No complications were noted. Visual rehabilitation was successful. Extracapsular cataract extraction with a posterior chamber IOL sutured to the posterior surface of the iris and anterior capsule is a useful option in patients with anterior megalophthalmos and cataract. ( info) |
19/1078. syndrome of microcephaly, microphthalmia, cataracts, and intracranial calcification. We present two sisters with microcephaly, developmental delay, marked microphthalmia, congenital cataracts, cerebral and cerebellar hypoplasia, and intracranial calcification. No evidence of intrauterine infection was found. There have been previous reports of microcephaly, intracranial calcification, and an intrauterine infection-like autosomal recessive condition, but the sibs in this report appear to represent a more severe form of such a condition or a previously undescribed entity. ( info) |
20/1078. Fetal cataract in congenital toxoplasmosis. We report a case of the prenatal diagnosis of fetal cataract due to congenital toxoplasmosis. To the best of our knowledge, this is the first report of such a case. We discuss the long-term ocular sequelae of the condition and how they should affect prenatal counselling. ( info) |