keyword
MENU ▼
Read by QxMD icon Read
search

Lattice dystrophy

keyword
https://www.readbyqxmd.com/read/28393022/two-mutations-in-the-transforming-growth-factor-beta-induced-gene-associated-with-familial-lattice-corneal-dystrophy
#1
Wen-Ping Cao, Hai-Gang Yuan, Ping Liu, Xue Li, Qi Hu
AIM: To report a phenotypic variant pedigree of lattice corneal dystrophy (LCD) associated with two mutations, R124C and A546D, in the transforming growth factor beta-induced gene (TGFBI). METHODS: A detailed ocular examination was taken for all participants of a LCD family. Peripheral blood leukocytes from each participant were extracted to obtain the DNA. Polymerase chain reaction (PCR) of all seventeen exons of TGFBI gene was performed. The products were sequenced and analyzed...
2017: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/28381645/effect-of-position-specific-single-point-mutations-%C3%A2-and-%C3%A2-biophysical-characterization-of-amyloidogenic-peptide-fragments-identified-from-lattice-corneal-dystrophy-%C3%A2-patients
#2
Venkatraman Anandalakshmi, Elavazhagan Murugan, Eunice Tze Leng Goh, Lim Wei Ting, Shyam S Chaurasia, Toshio Yamazaki, Toshio Nagashima, Benjamin Lawrence George, Gary Swee Lim Peh, Konstantin Pervushin, R Lakshminarayanan, Jodhbir S Mehta
Corneal stromal dystrophies are a group of genetic disorders that may be caused by mutations in the TGFBI gene which results in the aggregation and deposition of mutant proteins in various layers of the cornea. The type of amino acid substitution dictates the age of onset, anatomical location of the deposits, morphological features of deposits (amyloid, amorphous powder or a mixture of both forms) and the severity of disease presentation. It has been suggested that abnormal turn over and aberrant proteolytic processing of the mutant proteins results in the accumulation of insoluble protein deposits...
April 5, 2017: Biochemical Journal
https://www.readbyqxmd.com/read/28358433/tgfbi-gene-mutations-analysis-in-chinese-families-with-corneal-dystrophies
#3
Xiaojuan Wang, Ming Ying, Changbo Fu, Yuchuan Wang, Ningdong Li
The aim of the present study was to examine the clinical features of three Chinese families with autosomal dominant corneal dystrophy (CD) and examine transforming growth factor‑β‑induced (TGFBI) gene mutations in these families. The TGFBI gene mutations were detected using direct sequencing of the whole coding regions and exon-intron boundaries of the TGFBI gene in the affected members from the three families with CD. The phenotypes of all affected individuals in the three families were observed via slit lamp examination...
May 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28250773/meretoja-s-syndrome-lattice-corneal-dystrophy-gelsolin-type
#4
I Casal, S Monteiro, C Abreu, M Neves, L Oliveira, M Beirão
Lattice corneal dystrophy gelsolin type was first described in 1969 by Jouko Meretoja, a Finnish ophthalmologist. It is caused by an autosomal dominant mutation in gelsolin gene resulting in unstable protein fragments and amyloid deposition in various organs. The age of onset is usually after the third decade of life and typical diagnostic triad includes progressive bilateral facial paralysis, loose skin, and lattice corneal dystrophy. We report a case of a 53-year-old female patient referred to our Department of Ophthalmology by severe dry eye and incomplete eyelid closure...
2017: Case Reports in Medicine
https://www.readbyqxmd.com/read/27982499/hereditary-gelsolin-amyloidosis-hga-a-neglected-cause-of-bilateral-progressive-or-recurrent-facial-palsy
#5
Anna Sagnelli, Giuseppe Piscosquito, Daniela Di Bella, Laura Fadda, Lisa Melzi, Antonio Morico, Claudia Ciano, Franco Taroni, Dante Facchetti, Ettore Salsano, Davide Pareyson
We report the first Italian family affected by hereditary gelsolin amyloidosis (HGA), a rare autosomal dominant disease characterized by adult-onset slowly progressive cranial neuropathy, lattice corneal dystrophy, and cutis laxa. The index case was a 39-year-old male with a 9-year history of progressive bilateral facial nerve palsy. His mother had two episodes of acute facial palsy, and his maternal aunt and grandfather were also affected. Electrophysiological studies confirmed bilateral facial nerve involvement, without signs of peripheral polyneuropathy, and ophthalmological examination showed bilateral lattice corneal dystrophy, in both the index case and his mother...
March 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/27965261/very-early-endothelial-cell-loss-after-penetrating-keratoplasty-with-organ-cultured-corneas
#6
Anne Sophie Gauthier, Thibaud Garcin, Gilles Thuret, Zhiguo He, Remy Jullienne, Marie Caroline Trone, Chaker Nefzaoui, Sophie Acquart, Fabien Forest, Michel Péoc'h, Bernard Delbosc, Philippe Gain
AIMS: After keratoplasty, postoperative endothelial cell loss is calculated between the eye bank endothelial cell density (ebECD) and the postoperative specular microscopy (SM). To elucidate the very early cell loss, always described after penetrating keratoplasty (PK), we designed two complementary studies. METHODS: (1) Clinical prospective study of 90 consecutive PKs (keratoconus, Fuchs' corneal dystrophy, lattice dystrophy, bullous keratopathy) with organ-cultured corneas and postoperative follow-up by SM at day 5 (D5), D15, month 1 (M1) and M3...
December 13, 2016: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/27829782/genetic-analysis-of-chst6-and-tgfbi-in-turkish-patients-with-corneal-dystrophies-five-novel-variations-in-chst6
#7
Fulya Yaylacioglu Tuncay, Gülsüm Kayman Kurekci, Sezen Guntekin Ergun, Ozge Tugce Pasaoglu, Rustu Fikret Akata, Pervin Rukiye Dincer
PURPOSE: To identify pathogenic variations in carbohydrate sulfotransferase 6 (CHST6) and transforming growth factor, beta-induced (TGFBI) genes in Turkish patients with corneal dystrophy (CD). METHODS: In this study, patients with macular corneal dystrophy (MCD; n = 18), granular corneal dystrophy type 1 (GCD1; n = 12), and lattice corneal dystrophy type 1 (LCD1; n = 4), as well as 50 healthy controls, were subjected to clinical and genetic examinations. The level of antigenic keratan sulfate (AgKS) in the serum samples of patients with MCD was determined with enzyme-linked immunosorbent assay (ELISA) to immunophenotypically subtype the patients as MCD type I and MCD type II...
2016: Molecular Vision
https://www.readbyqxmd.com/read/27737463/genotype-phenotype-correlation-for-tgfbi-corneal-dystrophies-identifies-p-g623d-as-a-novel-cause-of-epithelial-basement-membrane-dystrophy
#8
Cerys J Evans, Alice E Davidson, Nicole Carnt, Karla E Rojas López, Neyme Veli, Caroline M Thaung, Stephen J Tuft, Alison J Hardcastle
Purpose: The majority of anterior corneal dystrophies are caused by dominant mutations in TGFBI (transforming growth factor β-induced) collectively known as the epithelial-stromal TGFBI dystrophies. Most cases of epithelial basement membrane dystrophy (EBMD) are thought to result from a degenerative (nongenetic) process; however, a minority of cases are associated with specific TGFBI mutations. We evaluated the spectrum of TGFBI mutations and associated phenotypes in a United Kingdom cohort with typical epithelial-stromal TGFBI dystrophies and an EBMD cohort...
October 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27638889/independent-variability-of-microtubule-perturbations-associated-with-dystrophinopathy
#9
Joseph J Belanto, John T Olthoff, Tara L Mader, Christopher M Chamberlain, D'anna M Nelson, Preston M McCourt, Dana M Talsness, Gregg G Gundersen, Dawn A Lowe, James M Ervasti
Absence of the protein dystrophin causes Duchenne muscular dystrophy. Dystrophin directly binds to microtubules in vitro, and its absence in vivo correlates with disorganization of the subsarcolemmal microtubule lattice, increased detyrosination of α-tubulin, and altered redox signaling. We previously demonstrated that the dystrophin homologue utrophin neither binds microtubules in vitro nor rescues microtubule lattice organization when overexpressed in muscles of dystrophin-deficient mdx mice. Here, we fine-mapped the dystrophin domain necessary for microtubule binding to spectrin-like repeats 20-22...
September 16, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27600896/-objective-method-to-recognize-warning-signs-in-peripheral-vitreoretinal-dystrophies
#10
M V Pshenichnov, V V Egorov, O V Kolenko, E L Sorokin
AIM: to compare the effectiveness of biomicroscopy (BMS) and optical coherence tomography (OCT) in recognizing prognostically unfavorable signs in peripheral vitreoretinal dystrophy (PVRD) patients. MATERIAL AND METHODS: A total of 131 cases of equatorial PVRD (91 eyes of 56 patients) were assessed. The mean patient's age was 24.7 years. The length of the anterior-posterior axis of the eyeball averaged 25.36±1.12 mm. Prevalence of particular warning signs in PVRD patients at BMS or OCT was comparatively analyzed...
July 2016: Vestnik Oftalmologii
https://www.readbyqxmd.com/read/27536778/corneal-higher-order-aberrations-in-granular-lattice-and-macular-corneal-dystrophies
#11
Yukari Yagi-Yaguchi, Takefumi Yamaguchi, Yumi Okuyama, Yoshiyuki Satake, Kazuo Tsubota, Jun Shimazaki
PURPOSE: To evaluate the corneal higher-order aberrations (HOAs) in granular, lattice and macular corneal dystrophies. METHODS: This retrospective study includes consecutive patients who were diagnosed as granular corneal dystrophy type2 (GCD2; 121 eyes), lattice corneal dystrophies type 1, type 3A (LCDI; 20 eyes, LCDIIIA; 32 eyes) and macular corneal dystrophies (MCD; 13 eyes), and 18 healthy control eyes. Corneal HOAs were calculated using anterior segment optical coherence tomography, and the correlations between HOAs and visual acuity were analyzed...
2016: PloS One
https://www.readbyqxmd.com/read/27402970/variant-lattice-corneal-dystrophy-associated-with-compound-heterozygous-mutations-in-the-tgfbi-gene
#12
Lydia Bai-Tsin Ann, Alessandro Abbouda, Ricardo F Frausto, Samira Huseynli, Kishan Gupta, Jorge L Alió, Anthony J Aldave
BACKGROUND/AIMS: To report the clinical, histopathological and genetic features of a variant of lattice corneal dystrophy (LCD) associated with two pathogenic mutations in the transforming growth factor-B-induced (TGFBI) gene. METHODS: Clinical characterisation was performed by slit lamp examination and in vivo confocal microscopic imaging (IVCM). Histopathological characterisation was performed with light microscopic examination of an excised corneal button and a peripheral blood samples were collected for TGFBI screening...
April 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/27348782/tgfbi-gene-mutation-analysis-in-chinese-families-with-corneal-dystrophies
#13
Jianqiu Cai, Leru Zhu, Yi Zha, Qianyan Kang
AIMS: To identify transforming growth factor beta-induced (TGFBI) gene mutations in four Chinese families affected by corneal dystrophies. METHODS: In this study, three families (21 patients and 18 normal relatives), respectively, with Reis-Bücklers corneal dystrophy (RBCD), classic lattice corneal dystrophy (LCDI), and variant LCD (LCDI/IIIA) were assessed. All subjects underwent a complete ophthalmological evaluation, including biomicroscopic inspection and dilated fundus examination...
July 2016: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/27315290/the-oskar-fehr-lecture
#14
J S Weiss
PURPOSE: The first Oskar Fehr lecture is given in honour of Professor Fehr, a well respected ophthalmologist, who was head physician of the Department of Eye Diseases at the Rudolf Virchow Hospital from 1918. He practiced there until 1938, when he was forbidden to enter the clinic because he was Jewish and subject to the anti-Semitic laws that were instituted after the rise of the Nazi party. Dr. Fehr escaped to Great Britain, where he practiced ophthalmology into his eighties. He was the first to distinguish between granular corneal dystrophy, lattice corneal dystrophy and macular corneal dystrophy...
June 2016: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/27042751/epigallocatechin-gallate-remodels-fibrils-of-lattice-corneal-dystrophy-protein-facilitating-proteolytic-degradation-and-preventing-formation-of-membrane-permeabilizing-species
#15
Marcel Stenvang, Gunna Christiansen, Daniel E Otzen
Lattice corneal dystrophy is associated with painful recurrent corneal erosions and amyloid corneal opacities induced by transforming growth factor β-induced protein (TGFBIp) that impairs vision. The exact mechanism of amyloid fibril formation in corneal dystrophy is unknown but has been associated with destabilizing mutations in the fourth fasciclin 1 (Fas1-4) domain of TGFBIp. The green tea compound epigallocatechin gallate (EGCG) has been found to inhibit fibril formation of various amyloidogenic proteins in vitro...
April 26, 2016: Biochemistry
https://www.readbyqxmd.com/read/27028151/novel-tgfbi-mutation-p-leu558arg-in-a-lattice-corneal-dystrophy-patient
#16
Lubica Dudakova, Michalis Palos, Katerina Jirsova, Pavlina Skalicka, Pavel Dundr, Petra Liskova
No abstract text is available yet for this article.
March 30, 2016: Ophthalmic Genetics
https://www.readbyqxmd.com/read/26949635/uncovering-the-profile-of-mutations-of-transforming-growth-factor-beta-induced-gene-in-chinese-corneal-dystrophy-patients
#17
Xiao-Dan Hao, Yang-Yang Zhang, Peng Chen, Su-Xia Li, Ye Wang
AIM: To uncover the mutations profile of transforming growth factor beta-induced (TGFBI) gene in Chinese corneal dystrophy patients and further investigate the characteristics of genotype-phenotype correlations. METHODS: Forty-two subjects (6 unrelated families including 15 patients and 8 unaffected members, and 19 sporadic patients) of Chinese origin were subjected to phenotypic and genotypic characterization. The corneal phenotypes of patients were documented by slit lamp photography...
2016: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/26915616/the-first-korean-family-with-hereditary-gelsolin-amyloidosis-caused-by-p-d214y-mutation-in-the-gsn-gene
#18
Kyoung Jin Park, Jong Ho Park, June Hee Park, Eun Bin Cho, Byoung Joon Kim, Jong Won Kim
Hereditary gelsolin amyloidosis (HGA) is an autosomal dominant hereditary disease characterized by corneal lattice dystrophy, peripheral neuropathy, and cutis laxa. So far, no Korean patients with HGA have been reported. A 58-yr-old man presented with involuntary facial twitching, progressive bilateral facial weakness, and tongue atrophy. His mother, maternal uncle, two sisters, and son suffered from the same symptoms. Electrophysiological studies revealed signs of chronic denervation in the cervical and lumbar regions, mild sympathetic autonomic dysfunction, and bilateral facial nerve dysfunction...
May 2016: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/26805765/gender-differences-in-the-clinical-course-of-finnish-gelsolin-amyloidosis
#19
Sari Atula, Tuuli Nikoskinen, Aleksi Saastamoinen, Daniel Strbian, Eeva-Kaisa Schmidt, Sari Kiuru-Enari
PURPOSE: To investigate gender differences in Finnish gelsolin amyloidosis (AGel amyloidosis). PATIENTS AND METHODS: AGel amyloidosis patients, who were members of Finnish Amyloidosis Association (SAMY), filled in a questionnaire compiling known and suspected aspects of their disease. Telephone interviews and hospital medical records, when available, complemented the questionnaire. The data were entered to the database in order to create a national AGel amyloidosis patient registry (FIN-GAR)...
2016: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/26612778/pathogenesis-and-treatments-of-tgfbi-corneal-dystrophies
#20
REVIEW
Kyung Eun Han, Seung-il Choi, Tae-im Kim, Yong-sun Maeng, R Doyle Stulting, Yong Woo Ji, Eung Kweon Kim
Transforming growth factor beta-induced (TGFBI) corneal dystrophies are a group of inherited progressive corneal diseases. Accumulation of transforming growth factor beta-induced protein (TGFBIp) is involved in the pathogenesis of TGFBI corneal dystrophies; however, the exact molecular mechanisms are not fully elucidated. In this review article, we summarize the current knowledge of TGFBI corneal dystrophies including clinical manifestations, epidemiology, most common and recently reported associated mutations for each disease, and treatment modalities...
January 2016: Progress in Retinal and Eye Research
keyword
keyword
49568
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"