Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Concerning the clinical study, the oculo-cerebro-renal syndroms are well drawn and we nearly could say there is no syndrome of Lowe without a cataract. This conviction puts aside some oculo-cerebro-renal syndroms occured to female and easily called "Lowe's Syndrom". The glaucoma which exists in half of the cases, is scarcely a mechanical type, sometimes it is an usual congenital type with membrane of Barkan, but the more frequently, it is secondary to an alteration of all constitutive elements of the anterior uvea and of the camerular angle. Concerning inheritance, the absence of female cases among the PF observations confirm the recessive transmission attached to the sex, which is, in fact, definively established. Though the search of hererozygote females after an ophtalmological or biochimical observation has no absolute value, it anyway adds some very precious genetic requirements. Concerning the etio-pathogenic study, as we tried to show, the authors agree in simultaneous and contemporary appearance, between the 4th and the 6th month of the intra-uterine life of oculo-cerebro-renal troubles of Lowe's Syndrom and in the existence of a common factor, probably a genetic one. Anyway, we still have to precise the nature of the gene and the inter relations existing between the three injures.
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PMID:[Lowe's syndrome (author's transl)]. 14 65

The Lowe oculocerebrorenal syndrome (OCRL) is characterized by congenital cataract, mental retardation, and renal tubular dysfunction. We are using the approaches of linkage analysis, mapping with somatic cell hybrids, and long-range restriction mapping to determine the order of Xq24-q26 markers with respect to each other and to the OCRL locus. DXS42 and DXS100 are proximal to the translocation breakpoint in a female patient with OCRL and a de novo translocation t(X;3)(q25;q27). DXS10, DXS86, HPRT, and DXS177 are distal to the breakpoint. These flanking markers show tight linkage to the disease locus in 11 families segregating for OCRL. Results from field inversion gel analysis show that DXS86 and DXS10 share a 460-kb BssHII fragment. Multipoint analysis to determine the position of HPRT with respect to (DXS10,DXS86) suggests that HPRT is proximal to (DXS10,DXS86). We propose the following order for markers in Xq24-q26: Xcen-(DXS42,DXS37,DXS100)-OCRL-DXS53 -HPRT-[(DXS10,DXS86),DXS177]-Xqter. The identification of additional tightly linked flanking markers extends the number of markers available for use in genetic counseling and begins to define the physical map of the region containing the gene for OCRL.
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PMID:Genetic and physical mapping of Xq24-q26 markers flanking the Lowe oculocerebrorenal syndrome. 208 1

Presented are the results of surgical treatment glaucoma in congenital aniridia (10 eyes), in the syndrome of closed anterior chamber (7 eyes), in Sturge-Weber's syndrome (7 eyes) in marfan's disease (2 eyes), in Lowe's disease (2 eyes) and Recklinghausen's disease (1 eye). Trabeculectomy was performed in this majority of cases; in cleavage syndrome it was connected with cataract extraction. In Marfan's disease with lensectomy of a luxated lens. Cyclocryopexy and cyclodiathermy were applied as secondary surgical interventions. In general--44 operations were performed obtaining normalization of the intraocular pressure in 82% of eyes.
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PMID:[Treatment of glaucoma in children in congenital pathologic syndromes]. 262 43

The Lowe oculocerebrorenal syndrome (OCRL) is characterized by congenital cataract, mental retardation, and defective renal tubular function. A map assignment of OCRL to Xq24-q26 has been made previously by linkage analysis with DXS42 at Xq24-q26 (theta = 0, z = 5.09) and with DXS10 at Xq26 (theta = 0, z = 6.45). Two additional families were studied and three additional polymorphisms were identified at DXS42 by using a 35-kb sequence isolated with the probe detecting the original polymorphism at DXS42. With additional OCRL families made informative for DXS42, theta remained 0 with z = 6.63; and for DXS10 theta = 0.03 and z = 7.07. Evidence for placing OCRL at Xq25 also comes from a female with Lowe syndrome and an X;3 translocation. We have used the Xq25 breakpoint in this patient to determine the position of OCRL relative to the two linked markers. Each derivative chromosome was isolated away from its normal counterpart in somatic cell hybrids. DXS42 was mapped to the derivative chromosome X containing Xpterq25, and DXS10 was mapped to the derivative chromosome 3 containing Xq25-qter. The markers DXS10 and DXS42 therefore show tight linkage with OCRL in six families and flank the Xq25 breakpoint in a female patient with an X;3 translocation. Linkage analysis with flanking markers was used to assess OCRL carrier status in women at risk. Results, when compared with carrier determination by ophthalmologic examination, indicated that the slit-lamp exam can be a sensitive and specific method of carrier determination in many cases.
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PMID:Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessment. 289 82

At 7 months of age, an infant with Lowe's oculocerebrorenal syndrome developed an epimacular membrane after three intraocular surgeries in the right eye. Serial fundus photographs document the membrane's appearance 6 months after lensectomy/vitrectomy for a dense cataract and 2 months after the second trabeculotomy for congenital glaucoma. Epimacular membranes are a vitreoretinal disorder found almost exclusively in adults. To the best of our knowledge, this is the first documented case of acquired preretinal macular membrane in an infant and the youngest case reported in the literature. The loss of formed vitreous and repeated deposition of blood products into the vitreous cavity may be responsible for the development of this preretinal membrane.
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PMID:Acquired epimacular membrane after multiple intraocular procedures in an infant. 341 24

Based on our morphologic and ultrastructural studies, we suggest that the characteristic lens opacities in Lowe's syndrome result from a genetic defect in the lens cells. This defect manifests early in embryogenesis, and the progression of the lens opacities is related to both the inherent genetic abnormality and the prevailing extralenticular environment. The defective formation and subsequent degeneration of the primary posterior lens fibers account for their loss and for the flattened, discoid, or ring-shaped cataract. The other findings, such as anterior polar cataract, subcapsular fibrous plaque, capsular excrescences, bladder cells, and posterior lenticonus are not necessarily specific for Lowe's syndrome. We believe that the pathogenesis of Lowe's cataract can be explained by Lyon's hypothesis, which implies that, very early in embryogenesis (at the stage of the primitive streak), one of the two X chromosomes in females is deactivated. We consider the high incidence of lens opacities in female carriers to be due to this random deactivation. In male probands, however, all lens cells are affected, since there is no normal X chromosome to nullify the effect of the Lowe gene.
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PMID:Pathogenesis of cataracts in patients with Lowe's syndrome. 376 53

Oculocerebrorenal Lowe syndrome is a rare X-linked disorder characterized by bilateral cataract, mental retardation and renal Fanconi syndrome. The Lowe syndrome protein Ocrl1 is a PIP2 5-phosphatase, primarily localized to the trans-Golgi network (TGN), which 'loss of function' mutations result in PIP2 accumulation in patient's cells. Although PIP2 is involved in many cell functions including signalling, vesicle trafficking and actin polymerization, it has been difficult so far to decipher molecular/cellular mechanisms responsible for Lowe syndrome phenotype. We have recently shown that, through its C-terminal RhoGAP domain, Ocrl1 forms a stable complex with Rac GTPase within the cell. In line with this finding, we report here that upon epidermal growth factor induced Rac activation in COS-7 cells, a fraction of Ocrl1 translocates from TGN to plasma membrane and concentrates in membrane ruffles. In order to investigate the functionality of Ocrl1 in plasma membrane, we have analysed PIP2 distribution in human dermal fibroblasts (HDFs) from Lowe patients versus control HDFs. As revealed by both immunodetection and green fluorescent protein-PH binding, PIP2 was found strikingly to accumulate in PDGF induced ruffles in Lowe HDFs when compared with control. This suggests that Ocrl1 is active as a PIP2 5-phosphatase in Rac induced membrane ruffles. Cellular properties such as cell migration and establishment of cell-cell contacts, which depend on ruffling and lamellipodia formation, should be further investigated to understand the pathophysiology of Lowe syndrome.
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PMID:Lowe syndrome protein Ocrl1 is translocated to membrane ruffles upon Rac GTPase activation: a new perspective on Lowe syndrome pathophysiology. 1582 1

The oculo-cerebro-renal syndrome of Lowe is a rare X-linked disorder, caused by the inositol biphosphate 5-phosphatase deficiency, localized to the Golgi complex. Several mutations were reported in patient's OCRL gene leading to enzyme deficiency. We report a Moroccan case of OCRL syndrome of Lowe with a neo mutation in exon 10. The patient aged of 19 months was referred to our medical centre because of a psychomotor retardation. He had a medical history of eye abnormalities including cataract and bilateral glaucoma, diagnosed when he was 5 weeks old. Cataract has been treated after chirurgical therapy but ocular hypertonia persisted. Physical examination revealed an axial hypotonia and walking difficulties. Laboratory tests revealed a moderate acidosis (20 mmol/L), a slight decrease of serum phosphate level (24 mg/L) and an increased serum phosphatase activity. Further studies showed mild proteinuria, urinary bicarbonates loosing and generalised hyperaminoaciduria. Based on both clinical and biological data, Lowe syndrome has been suggested. In this context, molecular investigation has been performed using dHPLC/sequencing techniques which allow identifying an original mutation c.776T>C (p.Phe259Ser), localized on the exon 10 of the OCRL gene. The mutation was not found in the probant's mother suggesting a neo mutation. Lowe syndrome is a rare hereditary X-linked disorder resulting from a variety of heterogeneous mutations of OCRL gene. Indeed, numerous mutations have been reported, variations were noted concerning their localization as well as their type. To our knowledge, this is the first report of the neo mutation c.776T>C of OCRL gene and the first published case report of the Lowe syndrome in a Moroccan patient.
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PMID:[Oculo-cerebro-renal Lowe syndrome: clinical, biochemical and molecular studies in a Moroccan patient]. 1642 Sep 90

Lowe (oculocerebrorenal) syndrome is an X-linked recessive disorder characterised by congenital cataract, glaucoma, cognitive developmental delay and renal tubular Fanconi syndrome. In this report we present a patient with Lowe syndrome with a tigroid pattern on cranial MRI, which has not been previously reported as an imaging feature of this syndrome.
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PMID:Tigroid pattern on magnetic resonance imaging in Lowe syndrome. 1902 72

Lowe's syndrome is a rare inherited metabolic disorder characterized by mental retardation, kidney malfunction, and abnormalities of the eyes and bones. A 4 month-old child with Lowe's and Fanconi's syndrome, undergoing bilateral congenital cataract surgery, is presented. Preoperative electrolyte imbalance was corrected by potassium, calcium, magnesium, phosphate, and bicarbonate supplementation. Anesthesia was administered uneventfully using appropriate anesthetic agents and monitoring. Adequate preoperative evaluation and optimization, along with selection of anesthetic agents and fluid and electrolyte management with appropriate perioperative monitoring, is key to a successful outcome.
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PMID:Lowe's syndrome with Fanconi syndrome for ocular surgery: perioperative anesthetic considerations. 2110 39


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