1/287. Ocular pathology of Lowe's syndrome in a female infant.The ocular pathologic findings are presented in a case of a female infant with clinical and biochemical evidence of Lowe's syndrome. A small but increasing number of reports suggest that the mode of inheritance is not always sex-linked. The ocular histopathologic findings in the present case parallel those previously described for this syndrome. While the pathologic findings in other systems are variable, it is thought that the constellation of lens and anterior segment changes are sufficiently characteristic to identify cases of Lowe's syndrome.- - - - - - - - - - ranking = 1keywords = par (Clic here for more details about this article) |
2/287. Wilson's disease (hepatolenticular degeneration).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.- - - - - - - - - - ranking = 1keywords = par (Clic here for more details about this article) |
3/287. "The disappearing lens": failure of CT to image the lens in traumatic intumescent cataract.The CT scans of three patients whose eyes were lacerated by trauma failed to demonstrate the lens. A slit-lamp examination of those eyes clearly indicated that the lenses were present behind the iris but that they were swollen and opaque (intumescent cataract). Apparently, a shift of water into the injured lens had reduced the expected hyperdense CT image of the lens to a level that it was no longer discernible.- - - - - - - - - - ranking = 1keywords = par (Clic here for more details about this article) |
4/287. Recurrent mutations in the iron regulatory element of L-ferritin in hereditary hyperferritinemia-cataract syndrome.BACKGROUND AND OBJECTIVE: Hereditary hyperferritinemia-cataract syndrome (HHCS) is an autosomal dominant disorder characterized by bilateral cataracts and increased serum and tissue L-ferritin, in the absence of iron overload. The deregulation of ferritin production is caused by heterogeneous mutations in the iron regulatory element (IRE) of L-ferritin that interfere with the binding of iron regulatory proteins. DESIGN AND methods: We have identified several patients from three unrelated Italian families with HHCS. Iron parameters were assessed by standard methods. The IRE element of L-ferritin was amplified by PCR using appropriate primers and directly sequenced. RESULTS: Ferritin levels ranged from 918 microg/L to 2490 microg/L in the patients studied. In one family bilateral cataracts were diagnosed early in life, whereas in the others cataracts were diagnosed around 40-50 years. The female proband of family 3 presented with a severe iron deficiency anemia, which was unrecognized because of the increased ferritin values. Sequencing of the IRE element of L-ferritin in the probands of the three families identified three different nucleotide substitutions ( 32 GAE A, 40 AAE G and 39 CT) in the IRE of L-ferritin. These mutations have already been reported in unrelated subjects of different ethnic origins. INTERPRETATION AND CONCLUSIONS: Our findings are consistent with recurrent mutations associated with HHCS and underline the importance of this syndrome in the differential diagnosis of unexplained hyperferritinemia. In addition, the findings highlight the role played by transferrin saturation in the diagnosis of iron deficiency in these patients.- - - - - - - - - - ranking = 1keywords = par (Clic here for more details about this article) |
5/287. Merosin-positive congenital muscular dystrophy in two siblings with cataract and slight mental retardation.We report on two siblings that have been followed for 14 years, with merosin-positive congenital muscular dystrophy (CMD), cataract, retinitis pigmentosa, dysversion of the optic disc, but no cerebral anomalies, except for microcephaly and slight mental retardation (MR). The younger child had three generalized seizures easily controlled by anticonvulsant therapy. Both children presented hypotonia from birth, delayed psychomotor development, generalized muscular weakness, and atrophy and joint contractures of knees and ankles. The course of the disease, apparently static during the first 10 years of life, became progressive during the second decade with loss of deambulation by the age of 13. creatine kinase was increased in both children. Bilateral cataract was diagnosed at 6-months of age. In spite of the occurrence of microcephaly, MR was slight and the siblings acquired reading and writing skills after the aged 10. head magnetic resonance imaging showed normal results in both siblings. The classification of these cases within the broad spectrum of CMD is difficult since most of the known muscle-eye-brain syndromes generally show severe MR and brain anomalies. We consider these cases as corresponding to the rarer syndromes of merosin-positive CMD with associated features such as cataract and MR that were particularly emphasized during the 50th ENMC International Workshop on CMD [Dubowitz V. Workshop report: 50th ENMC International workshop on congenital muscular dystrophy. Neuromusc Disord 1997;7:539-547]. Further genetic, pathological, neuroradiological, and immunocytochemical studies will be necessary for better elucidation of the classification and pathogenesis of CMD.- - - - - - - - - - ranking = 2keywords = par (Clic here for more details about this article) |
6/287. Ophthalmic manifestation of congenital protein c deficiency.Under normal conditions activated protein C is a natural anticoagulant that cleaves 2 activated coagulation factors, factor va and factor viiia, thereby inhibiting the conversion of factor X to factor xa and of prothrombin to thrombin. Additionally, activated protein C enhances tissue-plasminogen activator-mediated fibrinolysis by inhibition of plasminogen activator inhibitor-1. This results in an increase in circulatory plasminogen activator levels. protein c deficiency, a genetic or acquired thrombophilic abnormality, has been demonstrated to predispose to episodes of potentially blinding and lethal thromboembolic events. Heterozygous-deficient subjects usually remain asymptomatic until adolescence or adulthood. In homozygous-deficient patients, protein C activity is usually less than 1% (reference range, 70%-140%), resulting in thromboembolism as early as in the neonatal period. The major clinical symptoms in affected newborn infants have been purpura fulminans, vitreous hemorrhage, and central nervous system thrombosis. The age of onset of the first symptoms has ranged from a few hours to 2 weeks after birth, usually after an uncomplicated full-term pregnancy and delivery. In contrast to the genetic form, acquired neonatal protein c deficiency occurs particularly in ill preterm babies. Typical complications of prematurity such as respiratory distress syndrome, necrotizing enterocolitis, and neonatal sepsis may also be present. In the medical literature, there are only a few reports of homozygous protein c deficiency in neonates. We present 2 cases of homozygous protein c deficiency with ocular and extraocular manifestation.- - - - - - - - - - ranking = 1keywords = par (Clic here for more details about this article) |
7/287. Severe, non X-linked congenital microcephaly with absence of the pyramidal tracts in two siblings.In two siblings (a female and a male neonate), severe microcephaly, bilateral absence of the pyramids, severe hypoplasia of the cerebral peduncles, and dysplasia of the inferior olives was found together with microphthalmia, facial malformations and multiple contractures of the extremities. In both cases, the cerebral hemispheres otherwise showed a more or less normal gyral pattern with the insula incompletely covered by the opercula, and a tom but otherwise intact corpus callosum. In case 2, congenital cataract was also observed. The present cases can be characterized as a rapidly fatal, familial syndrome, probably transmitted as an autosomal recessive trait, and have several features in common with the Neu-Laxova syndrome. They differ in having a less severe form of microcephaly, a rather normal cytoarchitecture of the cerebral cortex, an apparently normal corpus callosum, no gross cerebellar abnormalities, and no other organ malformations. The present cases belong to a group of heterogeneous syndromes which have microcephaly, ocular and facial malformations, multiple contractures, and ichthyosis-like skin in common.- - - - - - - - - - ranking = 1keywords = par (Clic here for more details about this article) |
8/287. A rapidly progressive cataract in a patient with autoimmune hypoparathyroidism and acute liver and renal failure.Cataract is a well-known complication of hypoparathyroidism, albeit the mechanism is obscure. The progression of cataract is typically slow in patients with idiopathic hypoparathyroidism. We describe a case of an extremely rapid evolution of typical hypocalcemic cataracts in a patient with familial autoimmune hypoparathyroidism during acute idiopathic hepatic and renal failure, while serum calcium and phosphorus were unbalanced. physicians and ophthalmologists must be aware of cataracts developing rapidly in the setting of such metabolic derangements.- - - - - - - - - - ranking = 7keywords = par (Clic here for more details about this article) |
9/287. Demyelinating sensorimotor neuropathy with congenital cataract, mental retardation, and unique, dysplastic perineurial cells within the endoneurium.We report on a 27-year-old Caucasian female with congenital cataract and mental retardation complaining of progressive paresis and atrophy of the lower legs beginning at the age of 16 years followed by atrophy of the thighs and small hand muscles. Motor and sensory conduction velocities (CV) of the upper and lower limbs were reduced (distal peroneal nerve: 21 m/s; median nerve: motor CV: 28 m/s, sensory CV 30 m/s). In the sural nerve biopsy specimens there were unique endoneurial cells immunoreactive for antibodies against the epithelial membrane antigen with multiple surface indentations and projections considered to be dysplastic perineurial cells. To the best of our knowledge these cells have not been reported in any other type of human peripheral neuropathy. The present case with the above clinical and structural findings appears to represent a new, complex, demyelinating type of a sporadic or possibly recessively inherited motor and sensory neuropathy.- - - - - - - - - - ranking = 1keywords = par (Clic here for more details about this article) |
10/287. eye injuries associated with paintball guns.AIMS: This study identifies the various types of ocular injuries sustained after blunt trauma with a paintball fired from a paintball gun. methods: We report two patients who sustained injury to an eye after being shot with a paintball and review similar cases presented in the world literature. The type of injury sustained and the final visual acuity obtained after a paintball hit to the eye are examined. RESULTS: The two boys presented were hit in the eye with a paintball resulting in lens subluxation, hyphema formation, and angle recession. cataract extraction was required in both cases. One boy also had an optic neuropathy and a choroidal rupture. A review of the literature reveals a variety of injuries occur after a paintball hit to the eye. In some of the cases, the damage to the eye has led to loss of vision and at times loss of the eye. CONCLUSIONS: Paintball guns can cause devastating ocular injuries. Wearing protective eye and face gear during this game is essential. We recommend that an anti-fog face mask with a one-piece polycarbonate eye shield be worn by those participating in paintball games.- - - - - - - - - - ranking = 1keywords = par (Clic here for more details about this article) |
| | Next -> |