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*  Lenz Microphthalmia Syndrome - NORD (National Organization for Rare Disorders)
Symptoms of the following disorders can be similar to those of Lenz microphthalmia syndrome. Comparisons may be useful for a differential diagnosis: Cataract-dental syndrome is an extremely rare inherited disorder that is apparent at birth (congenital). It is characterized by abnormalities of the teeth; ears that are flared forward (anteverted) and unusually prominent; and/or clouding of the lens of the eyes (congenital cataracts), resulting in poor vision. In addition, the front (anterior), clear portion of the eye through which light passes (cornea) may be unusually small (microcornea), the entire eye may be abnormally small (microphthalmia), and/or the eyelids may droop (ptosis); affected individuals may also exhibit involuntary, rapid eye movements (nystagmus). In some cases, additional physical abnormalities and/or mental retardation may also be present. The range and severity of symptoms may vary from case to case. Cataract-dental (Nance-Horan) syndrome is inherited as ...
https://rarediseases.org/rare-diseases/lenz-microphthalmia-syndrome/
*  Long-term Postoperative Outcomes After Bilateral Congenital Cataract Surgery in Eyes With Microphthalmos - Full Text View -...
Cataract surgery in infantile eyes, which are microphthalmic, can be even more demanding.. In addition, the frequent presence of other ocular and systemic anomalies such as nystagmus, glaucoma, amblyopia, and higher rate of postoperative complications may limit the success of cataract surgery.. In our previous study, the investigators examined the intraoperative performance and postoperative outcomes of bilateral cataract surgery in microphthalmic eyes of patients before their first birthday. At 1 year, the postoperative results showed that good visual outcomes could be obtained in microphthalmic eyes.. Since only a few studies have reported outcomes, and that too only short term of cataract surgery on microphthalmic eyes, in this prospective observational study we evaluated the long-term impact of bilateral cataract surgery on eyes with microphthalmos. The investigators examined the outcomes, complication rates, influence of age at surgery on pattern of axial growth and central corneal ...
https://clinicaltrials.gov/ct2/show/NCT01818037?term=cataract&rank=3
*  ORBi: Browsing ORBi
in European Journal of Human Genetics (2009), 17(10), 1325-35. Oculofaciocardiodental (OFCD) and Lenz microphthalmia syndromes form part of a spectrum of X-linked microphthalmia disorders characterized by ocular, dental, cardiac and skeletal anomalies and mental ... [more ▼]. Oculofaciocardiodental (OFCD) and Lenz microphthalmia syndromes form part of a spectrum of X-linked microphthalmia disorders characterized by ocular, dental, cardiac and skeletal anomalies and mental retardation. The two syndromes are allelic, caused by mutations in the BCL-6 corepressor gene (BCOR). To extend the series of phenotypes associated with pathogenic mutations in BCOR, we sequenced the BCOR gene in patients with (1) OFCD syndrome, (2) putative X-linked ('Lenz') microphthalmia syndrome, (3) isolated ocular defects and (4) laterality phenotypes. We present a new cohort of females with OFCD syndrome and null mutations in BCOR, supporting the ...
http://orbi.ulg.ac.be/browse?type=journal&value=European+Journal+of+Human+Genetics
*  Aetiology of severe visual impairment and blindness in microphthalmos. | British Journal of Ophthalmology
Microphthalmos occupies a spectrum from a normal, but small globe, to a globe with multiple anterior and posterior segment abnormalities. This study examines 54 eyes of 27 patients who had bilateral microphthalmos and severe visual impairment or blindness. Congenital cataract was the commonest cause of severe visual impairment (44%), followed by presumed retinal or optic nerve dysplasia (30%) and chorioretinal coloboma (22%). Lensectomy was followed by phthisis bulbi in 3/23 cases and retinal detachment in 2/23 cases. There were no cases of angle closure glaucoma. The three clinical conditions associated with a poor prognosis were cataract, chorioretinal coloboma, and a markedly reduced corneal diameter. A corneal diameter of 6 mm or less was associated with a visual acuity of no perception of light in 81% (21/26) compared with 4% (1/28) of those with larger corneas. ...
http://bjo.bmj.com/content/78/5/332
*  Axial length a factor in phaco of microphthalmos, nanophthalmos eyes - LinkOPH
Despite a series of challenges and risks, phacoemulsification with IOL implantation proved safe in eyes with microphthalmos and nanophthalmos, according to a study.The retrospective analysis included 103 eyes with axial length less than 21 mm that underwent phacoemulsification and IOL implantation. The median follow-up interval was 6.3 months. Full Story →. ...
http://www.linkoph.com/2013/01/31/axial-length-a-factor-in-phaco-of-microphthalmos-nanophthalmos-eyes/
*  Microphthalmia with linear skin defects syndrome | Genetic and Rare Diseases Information Center (GARD) - an NCATS...
A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Microphthalmia with linear skin defects syndrome
https://rarediseases.info.nih.gov/diseases/3659/index
*  HCCS gene - Genetics Home Reference
At least three HCCS gene mutations have been identified in individuals with microphthalmia with linear skin defects syndrome. Deletions of genetic material that include the HCCS gene have also been identified in affected individuals. HCCS gene mutations result in a holocytochrome c-type synthase enzyme that cannot perform its function. A deletion of genetic material that includes the HCCS gene prevents the production of the enzyme from that copy of the gene. This loss of functional holocytochrome c-type synthase enzyme can damage cells by impairing their ability to generate energy. In addition, without sufficient holocytochrome c-type synthase enzyme, the damaged cells may not be able to undergo apoptosis. These cells may instead die in a process called necrosis that causes inflammation and damages neighboring cells. During early development this spreading cell damage may lead to the eye and skin abnormalities characteristic of microphthalmia with linear skin defects ...
https://ghr.nlm.nih.gov/gene/HCCS
*  Phenotype of autosomal recessive congenital microphthalmia mapping to chromosome 14q32 | British Journal of Ophthalmology
The phenotype seen in this 14q32 linked family comprises varying degrees of microphthalmia in association with severe anterior segment abnormalities. There is, however, no evidence of coloboma or of anomalies of the lens, vitreous, or retina. While it is possible that altered scleral rigidity in these abnormal eyes may have rendered the Schiotz tonometer readings somewhat inaccurate it seems certain that raised intraocular pressure forms part of this microphthalmia phenotype. Since highly elevated intraocular pressures may be observed even at the age of 1 year it is possible that this may contribute significantly to the progressive corneal changes observed including staphyloma formation. The marked corneal opacity observed at this age (Fig 2A) may be due in part to the raised intraocular pressure, but appears rather too severe to be caused by this alone. Since three eyes belonging to older family members were found to have total sclerocornea it seems likely that corneal ...
http://bjo.bmj.com/content/83/8/919
*  Papers with the keyword Colombomas | Read by QxMD
Three patients had microphthalmos with cyst in one orbit and contralateral congenital cystic eye, microphthalmos alone, or microphthalmos with cyst. Four eyes were examined histopathologically. The microphthalmic eye demonstrated a spectrum of anterior segment abnormalities, retinal disorganization and gliosis, and a choroidal and scleral colomboma. The cyst connected to the colobona consisted of an outer fibrovascular layer and inner gliotic neuroectodermal layer. The cyst probably originated from proliferation of neuroectodermal tissue at the edge of a persistently open embryonic fissure ...
https://www.readbyqxmd.com/keyword/7720
*  Molecular Analysis of Microphthalmia/Anophthalmia - Full Text View - ClinicalTrials.gov
Inclusion criteria will consist of affected individuals with unilateral or bilateral microphthalmia/anophthalmia from families with an X-linked mode of transmission. In addition, we may analyze patients with mental retardation with or without eye defects to allow genotype phenotype correlation studies. Parents and siblings will be included for linkage analysis. Unaffected non-transmitting parents may be included to clarify haplotype status. In addition, families with X-linked microphthalmia/anophthalmia with associated anomalies such as Lenz dysplasia and other X-linked microphthalmia/anophthalmia syndromes will be analyzed to determine if these conditions are allelic. Sporadic cases of microphthalmia with or without mental retardation may be considered for study, along with parents and unaffected siblings. Unaffected subjects may also be enrolled if needed for controls.. Specimens from patients collected at outside institutions may be ...
https://clinicaltrials.gov/ct2/show/NCT00011843
*  The primary optic system in a microphthalmic snake (Calabaria reinhardti)
Reperant, J.; Miceli, D.; Rio, J.P.; Weidner, C., 1987: The primary optic system in a microphthalmic snake (Calabaria reinhardti)
https://eurekamag.com/research/021/971/021971023.php
*  Meis1 coordinates a network of genes implicated in eye development and microphthalmia | Development
Microphthalmos is a rare congenital anomaly characterized by reduced eye size and visual deficits of variable degrees. Sporadic and hereditary microphthalmos has been associated to heterozygous mutations in genes fundamental for eye development. Yet, many cases are idiopathic or await the identification of molecular causes. Here we show that haploinsufficiency of Meis1, a transcription factor with an evolutionary conserved expression in the embryonic trunk, brain and sensory organs, including the eye, causes microphthalmic traits and visual impairment, in adult mice. By combining the analysis of Meis1 loss-of-function and conditional Meis1 functional rescue with ChIP-seq and RNA-seq approaches we show that, in contrast to Meis1 preferential association with Hox-Pbx binding sites in the trunk, Meis1 binds to Hox/Pbx-independent sites during optic cup development. In the eye primordium, Meis1 coordinates, in a dose-dependent manner, retinal proliferation and differentiation by ...
http://dev.biologists.org/content/early/2015/08/05/dev.122176
*  DJO | Digital Journal of Ophthalmology
Most cases of nanophthalmos are spontaneous, although familial types exist. Cases of autosomal recessive (AR) and dominant (AD) nanophthalmos have been attributed to mutations on chromosome 11.(7) AR nanophthalmos has been reported to involve the MFRP (membrane frizzled-related protein) gene. The MFRP protein is expressed in the retinal pigment epithelium and ciliary body and is important to later stages of ocular development.(6,7) It is thought that mutations in MFRP result in decreased ocular growth, leading to crowding and thickening of the retina and choroid, abnormal foveal development, and chorioretinal folds.(6,7,8,12) A gene TMEM98 (transmembrane protein 98) on chromosome 17 has also recently been implicated in a form of AD nanophthalmos.(13,14) Nanophthalmos can additionally be present in less common conditions such as oculo-dento-digital and Kenney Caffey syndromes.(7 ...
http://djo.harvard.edu/print.php?url=/physicians/gr/2768&print=1
*  Microphthalmia with multiple ocular abnormalities in 11 horses: a novel syndrome | IOVS | ARVO Journals
Purpose : To report the clinicopathological features of a previously unrecognized ocular syndrome in horses characterized by bilateral microphthalmia with severe anterior segment dysgenesis, cartilaginous and glandular choristomatous ocular differentiation, aphakia, and retinal dysplasia. Methods : 22 globes from 11 neonatal equines diagnosed with congenital blindness secondary to microphthalmia were identified in the archives of the Comparative Ocular Pathology Laboratory of Wisconsin (COPLOW). Globes were formalin-fixed, paraffin-embedded, and sections were stained with H&E. Patient signalment, clinical history, and gross and histopathological lesions were reviewed and summarized. Results : All affected animals were euthanized for congenital blindness shortly after birth. 6/11 animals were female and 2/11 were male; the sex of 3/11 animals is unknown. Affected breeds included Thoroughbred (3/11), Standardbred (1/11), Paint (1/11), Rocky Mountain Spotted Horse (1/11), ...
http://iovs.arvojournals.org/article.aspx?articleid=2639539
*  Bosma arhinia microphthalmia syndrome
Your basket is currently empty. i ,p>When browsing through different UniProt proteins, you can use the 'basket' to save them, so that you can back to find or analyse them later.,p>,a href='/help/basket' target='_top'>More...,/a>,/p> ...
http://www.uniprot.org/diseases/DI-04955
*  Microphthalmia, Congenital Cataract, and Secondary Glaucoma in a Family | IOVS | ARVO Journals
Abstract: : Purpose: To use data from a single large kindred to characterize the phenotype and map the gene responsible for autosomal dominant congenital cataract and microphthalmos with associated secondary glaucoma. Methods: A pedigree was constructed through interviews with the proband and his spouse. We performed ophthalmologic evaluations and obtained blood samples for linkage analysis from the proband, his wife and all 13 of their children. The presence of more than 11 informative meioses in this consanguineous family suggests that it could be useful in a linkage study. Results: The pedigree reveals three consanguineous matings including the proband and his wife; they have a kinship coefficient of 1/12 indicating that they have 17% of their genes in common (in comparison, siblings have 50% of their genes in common and first cousins have 6% of their genes in common). The proband and 9/13 children are affected with microphthalmia and congenital cataract. The proband and five of the ...
http://iovs.arvojournals.org/article.aspx?articleid=2417725
*  Different clinical manifestations in two siblings with cytomegalovirus infection | Revista Médica del Hospital General de México
Case report 2. A 9-month-old girl, the boy's younger sister, with congenital microphthalmia in her right eye. Given her older brother's condition, although she was asymptomatic, she underwent anti-CMV immunoglobulin determinations that reported an IgG level of 56, an IgM level of 6.1 and a CMV viral load of 4500 copies. Like her older brother, the patient received treatment with valganciclovir 12mg/kg/day for 6 weeks. She was referred to the ophthalmology department, where it was decided to perform an eye excision. The final histopathology report for the excision was cystic microphthalmia.. Discussion. CMV excretion through saliva and urine has been observed to occur for months, or even occur episodically or persist for years after the primary infection.4 In neonatal infections, the virus may continue to be excreted for at least five or six years. In adults, viral excretion occurs for shorter periods; however, the virus will always be found to be latent.3,4 It has been ...
http://www.elsevier.es/es-revista-revista-medica-del-hospital-general-325-articulo-different-clinical-manifestations-in-two-S0185106316300634
*  Authors' response | British Journal of Ophthalmology
We would like to thank the authors Hornby and Gilbert for their interesting letter referring to our case report of bilateral colobomatous microphthalmos with orbital cyst. Their remarks and view are relevant and demand further clarification.. Because our intention was to investigate more in depth the origin of the cyst fluid and wall, and because of space limitations, we were not able to provide additional data about the documented vitamin A deficiency (VAD) during pregnancy in our histopathological case report.1 We will provide these here. The mother had a history of a biliopancreatic diversion (Scopinaro procedure) which resulted in a ...
http://bjo.bmj.com/content/92/11/1569
*  Microphthalmia with Coloboma, AD | Hereditary Ocular Diseases
In most cases of microphthalmos with coloboma, there are other abnormalities in the body. However, in the disorder described here, only the eye is abnormal. The diagnosis can be suspected from simple inspection when the normally round pupil has a 'keyhole' shape. This may be the only abnormality but sometimes there are other parts of the body that are involved and it is always important to have a complete eye and physical examination to detect other problems. ...
http://disorders.eyes.arizona.edu/handouts/microphthalmia-coloboma-ad
*  Duker Weiss Siber syndrome Summary Report | CureHunter
Duker Weiss Siber syndrome: Microphthalmos, microencephaly, mental retardation, agenesis of the corpus callosum, hypospadius, and cryptorchidism
http://www.curehunter.com/public/keywordSummaryC535719-Duker-Weiss-Siber-syndrome.do
*  CTRP5 is Localized to the Cell Junctions and Apical Membranes of Polarized Epithelial Cells and Interacts With Its Bicistronic...
Purpose: : A missense mutation in the CTRP5 gene is implicated in a complex ocular phenotype of early-onset long anterior lens zonules and late-onset retinal degeneration (LORD). CTRP5 is co-transcribed with MFRP as bicistronic gene. Null mutation in MFRP is associated with nanophthalmos in human and a splice site mutation causes retinal degeneration in mouse (rd6). Studies are carried out to understand the role of CTRP5 and MFRP genes in ocular physiology. Methods: : Localization of CTRP in MDCK cells, adult albino mouse and human eye sections was determined by immunofluorescence and immuno electron microscopy using CTRP5 and marker protein specific antibodies. Interaction of CTRP5 and MFRP proteins in human and mouse ocular tissues and also in COS-7 cells co-transfected with expression constructs of V5-tagged CTRP5 and Xpress-tagged MFRP was determined by immunoprecipitation (IP) and immunoblotting (IB). Results: : CTRP5 is localized to the RPE membrane in hexagonal punctate fashion and ...
http://iovs.arvojournals.org/article.aspx?articleid=2395598
*  Buy Spare Socks 3.0 for the Lenz Heated Sock System at CozyWinters
The Spare Socks 3.0 for the Lenz Heated Sock System is in stock and on sale. Shop for similar products or purchase it here. Free shipping offer.
https://cozywinters.com/shop/heat-socks-3-unisex.html
*  AAEP Names Tom Lenz New Vice President | TheHorse.com
|P>Thomas R. Lenz, DVM, MS, has been named the 2001 vice president of the American Association of Equine Practitioners.  The appointment was announced in August during the AAEP Board of Directors meeting in Gleneden Beach, Ore.  He will
http://www.thehorse.com/articles/11240/aaep-names-tom-lenz-new-vice-president
*  Perception of time - Lenz on Learning
I recently signed up for an amazing service called Peer Success Circles. It has absolutely transformed the way I go about my work. With a daily accountability partner, I've been much more effective and efficient at getting things done and moving forward on my goals. I'm now in my fifth week of this program, and I'm still loving it. It has become a new way of life. I should have started this long ago.. But one thing I'm learning this week is that I still need to take time for reflection. (Thankfully, the questions in this program naturally drive you into doing that too.) In the past, I actually reflected-or daydreamed-too much. I've now become much more action-oriented. Each day, I create a plan of attack, complete with a specific schedule of how I'm hoping to spend my time. And I track how I do-how closely I stick to the schedule, taking note of where I deviated. I'm developing new habits. Rather than habitually looking back at where I just was, I move forward. Reviewing how I did at the end of ...
http://lenzonlearning.com/2010/03/perception-of-time/
*  Bcor - Drugs.com
Bcor is a medicine available in a number of countries worldwide. A list of US medications equivalent to Bcor is available on the Drugs.com website.
https://www.drugs.com/international/bcor.html