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[Endophthalmitis nematodes as a cause of pseudoglioma].
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[The "osteoporosis-pseudoglioma" syndrome].
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[Incontinentia pigmenti (Bloch-Sulzberger) and pseudoglioma].
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[Osteoporosis pseudoglioma syndrome].
The author reports on two affected siblings with a very rare not yet published congenital syndrome in Hungary. Only thirty-eight patients have been reported in the literature. The syndrome is probably a genetic disorder of connective tissue with autosomal recessive transmission. The author draws attention that the knowledge of the two main components (generalised osteoporosis and blindness) of the syndrome can help in its correct diagnosis.
Contribution of echography to the diagnosis of retinoblastoma: a homogeneous B-scan study.
This paper concerns the echographic study of 38 pathological eyes suspected to be retinoblastoma cases examined between 1980 and 1983. It was a homogeneous study carried out with the same machine (Biophysic Medical's Triscan) and the same operator. No error of diagnosis was made on the 25 eyes considered to be cases of retinoblastoma. Two doubtful cases turned out to be pseudogliomas and in eleven cases the diagnosis of pseudoglioma given by the echography examination turned out to be correct. This study helps to demonstrate the importance of echography in the diagnosis of retinoblastoma and in the differential diagnosis between retinoblastoma and pseudoglioma.
Sclerosing endophthalmitis in children: computed tomography with histopathologic correlation.
Three children with histopathologically diagnosed sclerosing endophthalmitis presumably secondary to Toxocara canis were studied by orbital computed tomography. The diffuse increased intraocular density present in the CT scans was indistinguishable from that observed in Coats's disease and non-calcifying retinoblastoma. Although retinoblastoma constitutes the major life-threatening cause of leukocoria in children, a number of other simulating conditions (pseudoglioma) can cause diagnostic confusion. In some cases of leukocoria it is exceedingly difficult to exclude the possibility of retinoblastoma without having to resort to enucleation. The availability of new non-invasive tests may make the distinction between retinoblastoma and pseudogliomas more easily attainable. Computed tomography (CT) has been shown to be of particular value in this regard by demonstrating intraocular calcification within retinoblastoma and rarely in lesions that stimulate it. CT may also be used to more appropriately plan therapy for children with retinoblastoma by assessing the status of the optic nerve and orbit. The exact role of CT in the evaluation of children with leukocoria, however, has not been completely established, since the computed tomographic features of several lesions that simulate retinoblastoma have not been described. The three most common causes of pseudoglioma are persistent hyperplastic primary vitreous, Coats's disease and sclerosing endophthalmitis. The latter entity when associated with a characteristic granulomatous inflammation is considered to represent the sequela of Toxocara canis infection of the eye. This report describes the computed tomographic findings in three cases of histologically diagnosed sclerosing endophthalmitis, presumably due to Toxocara canis.
[Echography in the diagnosis of retinoblastoma].
Echography was performed on 38 eyes enucleated for suspected retinoblastoma. The two major criteria for the echographic diagnosis of retinoblastoma were the presence of intratumoral calcifications and normal axial length of the eye with respect to age. No errors in diagnosis were made on the 25 eyes considered to be cases of retinoblastoma by echographic criteria. Two doubtful cases turned out to be pseudogliomas and in 11 cases the diagnosis of pseudoglioma by ultrasonic examination was confirmed by histopathology. The results are compared with those of 67 cases of retinoblastoma examined from 1964 to 1977 by one of the authors and to other published series. This study helps to demonstrate the importance of echography in the diagnosis of retinoblastoma and in the differentiation between retinoblastoma and pseudoglioma .
Fetal loss in homozygous mutant Norrie disease mice: a new role of Norrin in reproduction.
Mutations in the Norrie disease pseudoglioma gene (NDP) are known to cause X-linked recessive Norrie disease. In addition, NDP mutations have been found in other vasoproliferative retinopathies such as familial exudative vitreoretinopathy, retinopathy of prematurity, and Coats disease, suggesting a role for Norrin in vascular development. Here we report that female mice homozygous for the Norrie disease pseudoglioma homolog (Ndph) knockout allele exhibit almost complete infertility, while heterozygous females and hemizygous males are fertile. Histological examinations and RNA in situ hybridization analyses revealed defects in vascular development and decidualization in pregnant Ndph-/- females from embryonic day 7 (E7) onwards, resulting in embryonic loss. Using RT-PCR analyses we also demonstrate, for the first time, the expression of Ndph in mouse uteri and deciduae as well as the expression of NDP in human placenta. Taken together, these data provide strong evidence for Norrin playing an important role in female reproductive tissues.
Spondylo-ocular syndrome: a new entity with crystalline lens malformation, cataract, retinal detachment, osteoporosis, and platyspondyly.
PURPOSE: To define a new clinical entity in a consanguineous family with six children affected by a spondylo-ocular syndrome, including cataract, crystalline lens malformation, retinal detachment, osteoporosis, and platyspondyly. To analyze candidate genes of connective tissue disorders as a possible underlying disorder and to demonstrate especially the ocular phenotype. DESIGN: Observational case series. METHODS: Consanguineous parents, one unaffected sibling and five affected children with clinical features of spondylo-ocular syndrome, were demonstrated. Clinical examination, radiologic, laboratory, and cytogenetic as well as moleculargenetic analyses were performed. The segregation of flanking marker alleles of three collagen genes and the interval for osteoporosis-pseudoglioma syndrome were analyzed. Two microsatellite markers located within Pax6CA/GT region were tested for homozygosity. RESULTS: On laboratory investigation a normal excretion of amino acids, mucopolysaccharides, and oligosaccharides could be found. The karyotype was normal. Complete radiologic examination in one index patient revealed a generalized moderate osteoporosis, platyspondyly with fish bone appearance, and greatly enlarged intervertebral spaces. The candidate genes known to be in Stickler syndrome as well as linkage to the osteoporosis-pseudoglioma syndrome candidate region could be excluded. None of the affected showed homozygosity for the Pax6 microsatellite markers. CONCLUSIONS: We conclude that the phenotype and the clinical features in this family defines a new Mendelian disorder. It remains to be seen what kind of molecule shared by eye and bone is involved.
The Wnt co-receptor LRP5 is essential for skeletal mechanotransduction but not for the anabolic bone response to parathyroid hormone treatment.
The cell surface receptor, low-density lipoprotein receptor-related protein 5 (LRP5) is a key regulator of bone mass. Loss-of-function mutations in LRP5 cause the human skeletal disease osteoporosis-pseudoglioma syndrome, an autosomal recessive disorder characterized by severely reduced bone mass and strength. We investigated the role of LRP5 on bone strength using mice engineered with a loss-of-function mutation in the gene. We then tested whether the osteogenic response to mechanical loading was affected by the loss of Lrp5 signaling. Lrp5-null (Lrp5-/-) mice exhibited significantly lower bone mineral density and decreased strength. The osteogenic response to mechanical loading of the ulna was reduced by 88 to 99% in Lrp5-/- mice, yet osteoblast recruitment and/or activation at mechanically strained surfaces was normal. Subsequent experiments demonstrated an inability of Lrp5-/- osteoblasts to synthesize the bone matrix protein osteopontin after a mechanical stimulus. We then tested whether Lrp5-/- mice increased bone formation in response to intermittent parathyroid hormone (PTH), a known anabolic treatment. A 4-week course of intermittent PTH (40 microg/kg/day; 5 days/week) enhanced skeletal mass equally in Lrp5-/- and Lrp5+/+ mice, suggesting that the anabolic effects of PTH do not require Lrp5 signaling. We conclude that Lrp5 is critical for mechanotransduction in osteoblasts. Lrp5 is a mediator of mature osteoblast function following loading. Our data suggest an important component of the skeletal fragility phenotype in individuals affected with osteoporosis-pseudoglioma is inadequate processing of signals derived from mechanical stimulation and that PTH might be an effective treatment for improving bone mass in these patients.
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.
In humans, low peak bone mass is a significant risk factor for osteoporosis. We report that LRP5, encoding the low-density lipoprotein receptor-related protein 5, affects bone mass accrual during growth. Mutations in LRP5 cause the autosomal recessive disorder osteoporosis-pseudoglioma syndrome (OPPG). We find that OPPG carriers have reduced bone mass when compared to age- and gender-matched controls. We demonstrate LRP5 expression by osteoblasts in situ and show that LRP5 can transduce Wnt signaling in vitro via the canonical pathway. We further show that a mutant-secreted form of LRP5 can reduce bone thickness in mouse calvarial explant cultures. These data indicate that Wnt-mediated signaling via LRP5 affects bone accrual during growth and is important for the establishment of peak bone mass.
Retinal vascular changes of incontinentia pigmenti.
Of 19 patients with incontinentia pigmenti, seven had a bizarre retinal anomaly that consisted of a zone of abnormal arteriovenous connections and preretinal fibrotic tissue at the temporal equator, with no perfusion peripheral to it. In one patient, the vascular changes progressed and required photocoagulation. This retinal lesion may represent an early stage of the pseudoglioma that so commonly is reported with this skin disease. Incontinentia pigmenti should be considered in the differential diagnosis of retinal vascular disease in girls and women of any age.
FGF-19, a novel fibroblast growth factor with unique specificity for FGFR4.
We have identified a novel fibroblast growth factor, FGF-19, the most distant member of the FGF family described to date. FGF-19 is a high affinity, heparin dependent ligand for FGFR4 and is the first member of the FGF family to show exclusive binding to FGFR4. Human FGF-19 maps to chromosome 11 q13.1, a region associated with an osteoporosis-pseudoglioma syndrome of skeletal and retinal defects. FGF-19 message is expressed in several tissues including fetal cartilage, skin, and retina, as well as adult gall bladder and is overexpressed in a colon adenocarcinoma cell line.
Norrie disease gene: characterization of deletions and possible function.
Positional cloning experiments have resulted recently in the isolation of a candidate gene for Norrie disease (pseudoglioma; NDP), a severe X-linked neurodevelopmental disorder. Here we report the isolation and analysis of human genomic DNA clones encompassing the NDP gene. The gene spans 28 kb and consists of 3 exons, the first of which is entirely contained within the 5' untranslated region. Detailed analysis of genomic deletions in Norrie patients shows that they are heterogeneous, both in size and in position. By PCR analysis, we found that expression of the NDP gene was not confined to the eye or to the brain. An extensive DNA and protein sequence comparison between the human NDP gene and related genes from the database revealed homology with cysteine-rich protein-binding domains of immediate--early genes implicated in the regulation of cell proliferation. We propose that NDP is a molecule related in function to these genes and may be involved in a pathway that regulates neural cell differentiation and proliferation.
Framework YAC contig anchored into a 3.2-Mb high-resolution physical map in proximal 11q13.
Despite the presence on band q13 of chromosome 11 of a number of genes predisposing individuals to various human diseases, most of this genomic region remains loosely mapped. Moreover, there is a relative dearth of yeast artificial chromosome (YAC) contigs from genome-wide studies: YACs are irregularly distributed over this chromosomal region and have not been arranged into contigs. We have thus undertaken fine-scale mapping of a 3.2-Mb region flanked by ACTN3 and FGF3. Since this region has demonstrated a high degree of YAC instability, we have established a framework contig by anchoring YACs and cosmids into a high-resolution physical map based on fluorescence in situ hybridization and long-range restriction mapping. The 3.2-Mb area studied includes the boundaries of regions thought to contain genes predisposing individuals to osteoporosis-pseudoglioma syndrome and insulin-dependent diabetes mellitus, as well as genes driving amplification events in human carcinomas. Another feature of this genomic area is that it cross-hybridizes to nonsyntenic regions of the genome. In addition, it spans the region where syntenic conservation with mouse chromosome 19 ends, making clones that we have anchored there valuable tools in understanding genome evolution.
Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromere of the X chromosome.
Norrie disease (ND) is an X-linked recessive disorder with congenital blindness (atrophia bulborum hereditaria, pseudoglioma). Six kindreds segregating for ND were studied for linkage with polymorphic markers of the human X chromosome. No recombination was observed between the ND-locus (NDP) and the DXS7 locus, the latter followed as a DNA-restriction fragment length polymorphism, detected by the recombinant DNA probe L1.28, and assigned to the region Xp11.2-Xp11.3. The maximum lod scores are zeta = 3.81 at theta = 0.00. Linkage data between NDP and the other genetic markers used in the present study are in keeping with this assignment of the mutation to the proximal Xp.
Wnt signaling and osteoblastogenesis.
Wnts are a large family of growth factors that mediate fundamental biological processes like embryogenesis, organogenesis and tumorigenesis. These proteins bind to a membrane receptor complex comprised of a frizzled (FZD) G-protein-coupled receptor (GPCRs) and a low-density lipoprotein (LDL) receptor-related protein (LRP). The formation of this ligand-receptor complex initiates a number of intracellular signaling cascades that includes the canonical/beta-catenin pathway, as well as several GPCR-mediated noncanonical pathways. In recent years, canonical Wnt signaling has been shown to play a substantial role in the control of bone formation. Clinical investigations have found that mutations in LRP-5 are associated with bone mineral density and fractures. For example, loss-of-function mutations in LRP-5 cause osteoporosis pseudoglioma syndrome, while gain-of-function mutations lead to high bone mass phenotypes. Studies of knockout and transgenic mouse models for Wnt pathway components like Wnt-10b, LRP-5/6, secreted frizzled-related protein-1, dickkopf-2, Axin-2 and beta-catenin have demonstrated that canonical signaling modulates most aspects of osteoblast physiology including proliferation, differentiation, bone matrix formation/mineralization and apoptosis as well as coupling to osteoclastogenesis and bone resorption. Future studies in this rapidly growing area of research should focus on elucidating Wnt/FZD specificity in the control of bone cell function, the role of noncanonical pathways in skeletal remodeling, and direct effects of Wnts on cells of the osteoclast lineage.