keyword
MENU ▼
Read by QxMD icon Read
search

sclerocornea

keyword
https://www.readbyqxmd.com/read/27777502/analysis-of-cyp1b1-in-pediatric-and-adult-glaucoma-and-other-ocular-phenotypes
#1
Linda M Reis, Rebecca C Tyler, Eric Weh, Kathryn E Hendee, Ariana Kariminejad, Omar Abdul-Rahman, Tawfeg Ben-Omran, Melanie A Manning, Catherine A McCarty, Terrie E Kitchner, Deborah Costakos, Elena V Semina
PURPOSE: The CYP1B1 gene encodes an enzyme that is a member of the cytochrome P450 superfamily. Mutations in CYP1B1 have been mainly reported in recessive pediatric ocular phenotypes, such as primary congenital glaucoma (PCG) and congenital glaucoma with anterior segment dysgenesis (CG with ASD), with some likely pathogenic variants also identified in families affected with adult-onset primary open angle glaucoma (POAG). METHODS: We examined CYP1B1 in 158 pediatric patients affected with PCG (eight), CG with ASD (22), CG with other developmental ocular disorders (11), juvenile glaucoma with or without additional ocular anomalies (26), and ASD or other developmental ocular conditions without glaucoma (91); in addition, a large cohort of adult patients with POAG (193) and POAG-negative controls (288) was examined...
2016: Molecular Vision
https://www.readbyqxmd.com/read/27741106/a-method-to-preserve-limbus-during-penetrating-keratoplasty-for-a-case-of-presumed-phaces-syndrome-with-sclerocornea-a-case-report
#2
Yi-Ju Ho, Hung-Chi Chen, Shirley H L Chang, Lung-Kung Yeh, David Hui-Kang Ma
BACKGROUND: Sclerocornea, a congenital corneal pathology characterized by bilateral scleralization of the cornea, which can be found in few cases with posterior fossa malformationshemangiomas-arterial anomalies-cardiac defects-eye abnormalities-sternal cleft and supraumbilical raphe (PHACES) syndrome. Presence of vascularization in peripheral cornea and smaller diameter of recipient cornea correlate to poor outcome of penetrating keratoplasty (PKP) in sclerocornea. Here we report a method to preserve limbus during PKP for small, irregular, and scleralized cornea...
October 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27550429/effectiveness-of-timely-intraoperative-iodine-irrigation-during-cataract-surgery
#3
Kazuki Matsuura, Dai Miyazaki, Shin-Ichi Sasaki, Keiko Yakura, Yoshitsugu Inoue, Masako Sakamoto
PURPOSE: To determine the antiseptic efficacy of timely intraoperative iodine irrigation during cataract surgery. METHODS: A total of 198 eyes of 99 cataract surgery patients were studied. The eyes were randomly assigned to treatment with or without timely intraoperative iodine irrigation of the surgical field with an iodine compound equivalent to 0.33 % povidone-iodine. In eyes in the timely intraoperative iodine irrigation group, the ocular surface was irrigated twice intraoperatively-before the initial incision and before insertion of the intraocular lens (IOL)...
August 22, 2016: Japanese Journal of Ophthalmology
https://www.readbyqxmd.com/read/27549880/corneal-leukoma-with-features-of-both-sclerocornea-and-peter-s-anomaly
#4
Meisha L Raven, Maria E Rodriguez, Heather D Potter
No abstract text is available yet for this article.
September 2016: Ophthalmology
https://www.readbyqxmd.com/read/27378168/8q21-11-microdeletion-in-two-patients-with-syndromic-peters-anomaly
#5
Hannah Happ, Kala F Schilter, Eric Weh, Linda M Reis, Elena V Semina
Peters anomaly is a form of anterior segment dysgenesis characterized by central ocular opacity and corneo-lenticular adhesions. Isolated and syndromic Peters anomaly can be observed and demonstrate significant genetic heterogeneity. We report the identification of overlapping 8q21.11 deletions in two patients with syndromic Peters anomaly via whole exome sequencing and chromosomal microarray analyses. Microdeletions of 8q21.11 were recently reported in 10 patients with highly variable phenotypes involving craniofacial features, ptosis, intellectual disability, abnormalities of the hands/feet and other defects; sclerocornea and/or microphthalmia were reported in three cases...
September 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/26130484/novel-mutations-in-pax6-otx2-and-ndp-in-anophthalmia-microphthalmia-and-coloboma
#6
Brett Deml, Linda M Reis, Emmanuelle Lemyre, Robin D Clark, Ariana Kariminejad, Elena V Semina
Anophthalmia and microphthalmia (A/M) are developmental ocular malformations defined as the complete absence or reduction in size of the eye. A/M is a highly heterogeneous disorder with SOX2 and FOXE3 playing major roles in dominant and recessive pedigrees, respectively; however, the majority of cases lack a genetic etiology. We analyzed 28 probands affected with A/M spectrum (without mutations in SOX2/FOXE3) by whole-exome sequencing. Analysis of 83 known A/M factors identified pathogenic/likely pathogenic variants in PAX6, OTX2 and NDP in three patients...
April 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/26025687/sclerocornea
#7
A Mahdavi Fard, L Pourafkari, N D Nader
No abstract text is available yet for this article.
November 2015: QJM: Monthly Journal of the Association of Physicians
https://www.readbyqxmd.com/read/25772934/mutations-in-ndufb11-encoding-a-complex-i-component-of-the-mitochondrial-respiratory-chain-cause-microphthalmia-with-linear-skin-defects-syndrome
#8
Vanessa A van Rahden, Erika Fernandez-Vizarra, Malik Alawi, Kristina Brand, Florence Fellmann, Denise Horn, Massimo Zeviani, Kerstin Kutsche
Microphthalmia with linear skin defects (MLS) syndrome is an X-linked male-lethal disorder also known as MIDAS (microphthalmia, dermal aplasia, and sclerocornea). Additional clinical features include neurological and cardiac abnormalities. MLS syndrome is genetically heterogeneous given that heterozygous mutations in HCCS or COX7B have been identified in MLS-affected females. Both genes encode proteins involved in the structure and function of complexes III and IV, which form the terminal segment of the mitochondrial respiratory chain (MRC)...
April 2, 2015: American Journal of Human Genetics
https://www.readbyqxmd.com/read/25731046/-ultrasound-biomicroscopy-in-infants-with-congenital-corneal-opacity-and-its-correlations-with-clinical-diagnosis-and-intraocular-pressure
#9
Haruna Yoshikawa, Yoko Ikeda, Chie Sotozono, Kazuhiko Mori, Morio Ueno, Shigeru Kinoshita
PURPOSE: Ultrasound biomicroscopy (UBM) can be used to investigate the appearance of the anterior chamber in infants with congenital corneal opacity. This study investigated the association between the UBM-obtained clinical imaging of anterior chamber morphology and the clinical diagnosis in infants with congenital corneal opacity. SUBJECTS AND METHODS: This study involved 19 eyes of 10 consecutive infants with congenital corneal opacity, 13 eyes with Peters anomaly (PA, 7 cases) and 6 eye with sclerocornea (SC, 3 cases), recruited at the Kyoto Prefectural University of Medicine, Kyoto, Japan between September 2001 and January 2009...
January 2015: Nippon Ganka Gakkai Zasshi
https://www.readbyqxmd.com/read/25291437/anterior-segment-developmental-anomalies-in-a-33-week-old-fetus-with-midas-syndrome
#10
Martina C Herwig, Karin U Loeffler, Ulrich Gembruch, Klaus Kuchelmeister, Annette M Müller
We report anterior segment abnormalities in both eyes of a 33-week-old fetus endorsing the diagnosis of MIDAS (microphthalmia, dermal aplasia, and sclerocornea) syndrome. After abortion, the fetus was examined by a standard pediatric autopsy that included macroscopic and microscopic examination of both eyes. Postmortem findings included craniofacial stigmata (such as hypertelorism, a flat nose and low-set ears) and an agenesis of the corpus callosum. Array comparative genomic hybridization revealed a deletion of the short arm of the X chromosome (region Xp22...
November 2014: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/25149931/a-newborn-with-complex-skeletal-abnormalities-joint-contractures-and-bilateral-corneal-clouding-with-sclerocornea
#11
Elizabeth A Sellars, Katherine A Bosanko, Tiffany Lepard, Adolfo Garnica, Gerald Bradley Schaefer
A newborn presented to genetics with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea. The patient survived for 8 months before succumbing to respiratory failure. Exome sequencing revealed a compound heterozygous mutation in theB3GALT6gene. Mutations in this gene have been associated with both Ehlers- Danlos syndrome, progeroid type 2 and spondyloepimetaphyseal dysplasia with joint laxity type 1. These diagnoses encompass the skeletal and joint findings. Our patient expands the phenotype of these diagnoses, as anterior segment eye anomalies have not been described with either syndrome, and he is much more profoundly affected...
June 2014: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/24939590/novel-mutations-in-pxdn-cause-microphthalmia-and-anterior-segment-dysgenesis
#12
Alex Choi, Richard Lao, Paul Ling-Fung Tang, Eunice Wan, Wasima Mayer, Tanya Bardakjian, Gary M Shaw, Pui-Yan Kwok, Adele Schneider, Anne Slavotinek
We used exome sequencing to study a non-consanguineous family with two children who had anterior segment dysgenesis, sclerocornea, microphthalmia, hypotonia and developmental delays. Sanger sequencing verified two Peroxidasin (PXDN) mutations in both sibs--a maternally inherited, nonsense mutation, c.1021C>T predicting p.(Arg341*), and a paternally inherited, 23-basepair deletion causing a frameshift and premature protein truncation, c.2375_2397del23, predicting p.(Leu792Hisfs*67). We re-examined exome data from 20 other patients with structural eye defects and identified two additional PXDN mutations in a sporadic male with bilateral microphthalmia, cataracts and anterior segment dysgenesis--a maternally inherited, frameshift mutation, c...
March 2015: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/24744607/epithelial-phenotype-in-total-sclerocornea
#13
David Hui-Kang Ma, Lung-Kung Yeh, Hung-Chi Chen, Anna Marie Chang, Yi-Ju Ho, Shirley H L Chang, Unique Yang
PURPOSE: To understand whether the epithelial phenotype in total sclerocornea is corneal or conjunctival in origin. METHODS: Four cases of total sclerocornea (male:female = 1:3; mean age = 5.4 ± 4.3; 1-11 years old) who received penetrating keratoplasty (PKP) at our hospital between 2008 and 2011 were included. Corneal buttons obtained during PKP were used for transmission electron microscopy (TEM) as well as immunoconfocal microscopy for cytokeratins 3, 12, and 13, goblet cell mucin MUC5AC, connexin 43, stem cell markers p63 and ABCG2, laminin-5, and fibronectin...
2014: Molecular Vision
https://www.readbyqxmd.com/read/24735900/clinical-spectrum-of-females-with-hccs-mutation-from-no-clinical-signs-to-a-neonatal-lethal-form-of-the-microphthalmia-with-linear-skin-defects-mls-syndrome
#14
Vanessa A van Rahden, Isabella Rau, Sigrid Fuchs, Friederike K Kosyna, Hiram Larangeira de Almeida, Helen Fryssira, Bertrand Isidor, Anna Jauch, Madeleine Joubert, Augusta M A Lachmeijer, Christiane Zweier, Ute Moog, Kerstin Kutsche
BACKGROUND: Segmental Xp22.2 monosomy or a heterozygous HCCS mutation is associated with the microphthalmia with linear skin defects (MLS) or MIDAS (microphthalmia, dermal aplasia, and sclerocornea) syndrome, an X-linked disorder with male lethality. HCCS encodes the holocytochrome c-type synthase involved in mitochondrial oxidative phosphorylation (OXPHOS) and programmed cell death. METHODS: We characterized the X-chromosomal abnormality encompassing HCCS or an intragenic mutation in this gene in six new female patients with an MLS phenotype by cytogenetic analysis, fluorescence in situ hybridization, sequencing, and quantitative real-time PCR...
2014: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/24626674/dermatoscopic-aspects-of-the-microphthalmia-with-linear-skin-defects-mls-syndrome
#15
Hiram Larangeira de Almeida, Gabriela Rossi, Luciana Boff de Abreu, Cristina Bergamaschi, Alessandra Banaszeski da Silva, Kerstin Kutsche
The association of microphthalmia and linear skin defects was named microphthalmia with linear skin defects syndrome (MLS) or MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea), an X-chromosomal disorder manifesting mainly in females. We examined a female newborn with facial linear skin defects following the Blaschko lines. Computer tomography and ophthalmological examination confirmed bilateral microphthalmia. An interstitial microdeletion at Xp22.2, encompassing the entire HCCS gene, was identified...
January 2014: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/24478002/sclerocornea-in-a-patient-with-van-den-ende-gupta-syndrome-homozygous-for-a-scarf2-microdeletion
#16
Michele P Migliavacca, Nara L M Sobreira, Graziela P M Antonialli, Mariana M Oliveira, Maria Isabel S A Melaragno, Ingele Casteels, Thomy de Ravel, Decio Brunoni, David Valle, Ana Beatriz A Perez
Van den Ende-Gupta Syndrome (VDEGS) is an autosomal recessive disorder characterized by blepharophimosis, distinctive nose, hypoplastic maxilla, and skeletal abnormalities. Using homozygosity mapping in four VDEGS patients from three consanguineous families, Anastacio et al. [Anastacio et al. (2010); Am J Hum Genet 87:553-559] identified homozygous mutations in SCARF2, located at 22q11.2. Bedeschi et al. [2010] described a VDEGS patient with sclerocornea and cataracts with compound heterozygosity for the common 22q11...
May 2014: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/24104853/clinical-outcome-of-penetrating-keratoplasty-in-patients-5-years-or-younger-peters-anomaly-versus-sclerocornea
#17
Yong Woo Kim, Hyuk Jin Choi, Mee Kum Kim, Won Ryang Wee, Young Suk Yu, Joo Youn Oh
PURPOSE: To investigate and compare the clinical outcome of primary penetrating keratoplasty in pediatric patients with Peters anomaly and sclerocornea. METHODS: Medical records of 20 eyes of 18 patients with Peters anomaly or sclerocornea who underwent primary penetrating keratoplasty when they were 5 years or younger were reviewed. The survival rates and median survival times of corneal grafts were evaluated to determine the surgical outcome. Demographics of patients, the preoperative characteristics of recipient eyes, surgical procedures, causes of graft failure, and postoperative complications were analyzed to identify the factors affecting graft survival...
November 2013: Cornea
https://www.readbyqxmd.com/read/24079751/new-corneal-findings-in-chromosome-10-deletion-syndrome-report-of-two-cases-of-corneal-ectasia-of-varying-severity
#18
Lik Thai Lim, Ajmal Rehman, Mohammad Tahir Masoud, Amrita Jaiya, Peng Yi Tan, J Angus Scott
PURPOSE: To describe corneal changes associated with chromosome 10 terminal deletion (chromosome 10, monosomy 10qter) syndrome. METHODS: Report of two cases of bilateral corneal ectasia with literature review. RESULTS: Corneal pathology has not previously been reported in the limited number of case reports on 10qter syndrome. However, Rodrigues et al.(1) have reported sclerocornea in 10q translocation. CONCLUSIONS: Ophthalmic manifestations of 10qter syndrome include strabismus, lid, and facial anomalies...
January 2015: Seminars in Ophthalmology
https://www.readbyqxmd.com/read/24019743/an-epidemiological-investigation-of-a-forkhead-box-protein-e3-founder-mutation-underlying-the-high-frequency-of-sclerocornea-aphakia-and-microphthalmia-in-a-mexican-village
#19
Carlos Pantoja-Melendez, Manir Ali, Juan C Zenteno
PURPOSE: To investigate the molecular epidemiological basis for the unusually high incidence of sclerocornea, aphakia, and microphthalmia in a village in the Tlaxcala province of central Mexico. METHODS: A population census was performed in a village to identify all sclerocornea, aphakia, and microphthalmia cases. Molecular analysis of the previously identified Forkhead box protein E3 (FOXE3) mutation, c.292T>C (p.Y98H), was performed with PCR amplification and direct DNA sequencing...
2013: Molecular Vision
https://www.readbyqxmd.com/read/23834556/a-case-of-22q11-2-deletion-syndrome-with-right-microphthalmia-and-left-corneal-staphyloma
#20
Berçin Tarlan, Hayyam Kiratli, Esra Kılıç, Eda Utine, Koray Boduroğlu
UNLABELLED: Abstract Background: A microdeletion in the chromosome 22q11.2 (DiGeorge or velocardiofacial syndrome) is the most common human deletion syndrome. Patients with 22q11.2 deletion may have a wide range of ocular findings but severe ocular involvement is uncommon. Here, we describe a 2-year-old boy who had growth retardation, developmental delay, right renal agenesis, ventricular septal defect and severe bilateral ocular anomalies. MATERIALS AND METHODS: The systemic and ocular findings and cranial magnetic resonance imaging study results were reviewed...
December 2014: Ophthalmic Genetics
keyword
keyword
17949
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"