234 results match your criteria Distichiasis


Labial mucosa grafting for lid margin, anterior lamellar, and posterior lamellar correction in recurrent cicatricial entropion.

Orbit 2020 Jun 25:1-5. Epub 2020 Jun 25.

Ophthalmic Plastic Surgery Services, LJ Eye Institute , Ambala, India.

Purpose: To report a novel modified technique for severe recurrent cicatricial entropion correction based on anterior lamellar recession (ALR) and grafting.

Methods: Six eyelids of five patients (9-48 years; three females) with severe cicatricial entropion (three upper and three lower eyelids) had surgical correction using ALR and labial mucosal grafting for spacing the ciliary margin away from the lid margin and reconstruction of the lid margin and posterior lamella. The modified technique included using mucous membrane as a single unit for anterior lamella, lid margin, and posterior lamella reconstruction employing a different suturing technique. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/01676830.2020.1782439DOI Listing

[Genetic variant analysis of a pedigree affected with lymphedema-distichiasis syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 Apr;37(4):434-437

Department of Clinical Genetics, Huaian Maternal and Child Health Care Hospital, Huaian, Jiangsu 223002, China.

Objective: To analyze FOXC2 gene variant in a family affected with lymphodema-distichiasis syndrome (LDS).

Methods: Peripheral blood samples were collected for the extraction of DNA and protein. Whole-exome sequencing was carried out to detect variants in the proband. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2020.04.017DOI Listing

Occurrence of spinal extradural arachnoid cysts in a child with concomitant intracranial midline abnormalities: case report.

J Neurosurg Pediatr 2020 Mar 6:1-6. Epub 2020 Mar 6.

2Division of Pediatric Neurosurgery, Department of Neurosurgery, The Johns Hopkins University School of Medicine, Baltimore, Maryland.

Spinal extradural arachnoid cysts (SEACs) are uncommon spinal lesions that may cause myelopathy, most frequently in the 2nd decade of life. There are multiple theories of their pathogenesis, and associated entities include spinal trauma, spina bifida, and the lymphedema-distichiasis syndrome. The authors report the case of an otherwise healthy, developmentally normal 13-year-old boy who presented with multiple SEACs. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3171/2019.12.PEDS19108DOI Listing

Evaluation of partial tarsal plate excision using a transconjunctival approach for the treatment of distichiasis in dogs.

Vet Ophthalmol 2020 May 21;23(3):506-514. Epub 2020 Feb 21.

Willows Veterinary Centre & Referral Service, Solihull, UK.

Purpose: To evaluate the clinical outcome, possible complications, and recurrence rate of distichiasis in dogs treated with partial tarsal plate excision (PTPE) technique using a transconjunctival approach.

Methods: Retrospective study including 17 client-owned canine patients affected with distichiasis and presenting with associated clinical signs (ie, blepharospasm, epiphora, chronic keratoconjunctivitis, or corneal ulceration) that underwent surgical removal of the aberrant lashes using a PTPE technique between January 2018 and February 2019. Data collected included breed, age, sex, affected eyelid(s), number of distichia, and tear film breakup time (TBUT). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/vop.12748DOI Listing

Distichiasis in association with entropion in metastatic HER2-positive breast cancer treated by pertuzumab, trastuzumab, and docetaxel combination chemotherapy.

Breast J 2020 May 20;26(5):1004-1006. Epub 2019 Nov 20.

Department of Ophthalmology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.

We report the first case of distichiasis combined with entropion in a HER2-positive metastatic breast cancer patient treated by pertuzumab, trastuzumab, and docetaxel combination therapy. After 7 months, she had ocular complaints including pain, irritation, burning, dryness, and redness in her both eyes. Ophthalmologic examination revealed distichiasis and a mild entropion involving her lower eyelids bilaterally. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/tbj.13697DOI Listing

Lymphoscintigraphic Abnormalities Associated with Milroy Disease and Lymphedema-Distichiasis Syndrome.

Lymphat Res Biol 2019 12 13;17(6):610-619. Epub 2019 Nov 13.

Molecular and Clinical Sciences, St George's University of London, London, United Kingdom.

Primary lymphedema is genetically heterogeneous. Two of the most common forms of primary lymphedema are Milroy disease (MD) and lymphedema-distichiasis syndrome (LDS). This study aims to look further into the pathogenesis of the two conditions by analyzing the lymphoscintigram images from affected individuals to ascertain if it is a useful diagnostic tool. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/lrb.2019.0016DOI Listing
December 2019

Clinical clues predictive of Stevens-Johnson syndrome as the cause of chronic cicatrising conjunctivitis.

Br J Ophthalmol 2020 Jul 19;104(7):1005-1009. Epub 2019 Oct 19.

Tej Kohli Cornea Institute, LV Prasad Eye Institute, Hyderabad, India

Purpose: This study aimed to identify the clinical clues in patients with chronic cicatrising conjunctivitis (CCC), that were suggestive of Stevens-Johnson syndrome (SJS) as the aetiology.

Methods: This was a cross-sectional observational study of 75 patients presenting with CCC from 2016 to 2018. Those with a documented diagnosis of SJS (n=43) were included as cases; while those with a positive serology or tissue biopsy for a non-SJS condition were included as controls (n=32). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/bjophthalmol-2019-314928DOI Listing
July 2020
5 Reads

Crystal Structure of FOXC2 in Complex with DNA Target.

ACS Omega 2019 Jun 24;4(6):10906-10914. Epub 2019 Jun 24.

Department of Bioengineering, The University of Texas at Dallas, 800 W. Campbell Road, Richardson, Texas 75080, United States.

Forkhead transcription factor C2 (FOXC2) is a transcription factor regulating vascular and lymphatic development, and its mutations are linked to lymphedema-distichiasis syndrome. FOXC2 is also a crucial regulator of the epithelial-mesenchymal transition processes essential for tumor metastasis. Here, we report the crystal structure of the FOXC2-DNA-binding domain in complex with its cognate DNA. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1021/acsomega.9b00756DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6648891PMC
June 2019
2 Reads

A new perspective in oculoplastic surgical management of symptomatic distichiasis in lymphedema-distichiasis syndrome.

Orbit 2019 Oct 5;38(5):424-427. Epub 2018 Dec 5.

Department of Ophthalmology, University Hospital Nottingham NHS Trust , Nottingham , UK.

Lymphedema-distichiasis syndrome (LDS) is an autosomal dominant condition associated with FOXC2 mutations. Patients with distichiasis are mostly symptomatic, and efforts to deal with their ocular complaints comprise of electrolysis, cryotherapy and a variety of surgical techniques. We describe an enhanced surgical technique for a case of symptomatic distichiasis of the right eye with scarred, irregular eyelid margins secondary to initial cryotherapy, whereby the distorted tarsus was excised to remove the aberrant hair follicles, the levator palpebrae superioris was released to extend the upper lid and prevent lagophthalmos and a mucous membrane graft was used to cover the exposed portion of the tarsal plate. Read More

View Article

Download full-text PDF

Source
https://www.tandfonline.com/doi/full/10.1080/01676830.2018.1
Publisher Site
http://dx.doi.org/10.1080/01676830.2018.1546749DOI Listing
October 2019
26 Reads

Prenatal thoraco-amniotic chest drain insertion to manage a case of fetal hydrops secondary to .

BMJ Case Rep 2018 Jun 4;2018. Epub 2018 Jun 4.

Fetal Medicine Centre, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.

Lymphoedema-distichiasis is an inherited autosomal dominant disorder of the lymphatic system. Rarely, it is associated with fetal hydrops; the risk and severity of which increases with successive generations. The causative gene is a member of the forkhead transcription factor family (). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/bcr-2017-223902DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5990056PMC
June 2018
11 Reads

Anterior tarsal flap rotation combined with anterior lamellar reposition in the repair of cicatricial upper eyelid entropion.

Arq Bras Oftalmol 2018 Jan-Feb;81(1):47-52

Department of Ophthalmology, Sisli Hamidiye Etfal Training and Research Hospital, Istanbul, Turkey.

Purpose: This study aimed to share the results of patients who underwent anterior tarsal flap rotation combined with anterior lamellar reposition because of cicatricial upper eyelid entropion, and to determine the effectiveness and reliability of this surgical technique.

Methods: Fifteen eyes of 11 patients (2 right eyes; 5 left eyes; and 4 bilateral eyes) on whom we performed anterior tarsal flap rotation surgery combined with anterior lamellar reposition because of cicatricial entropion were included in this study. The medical records of the patients were analyzed retrospectively, and the causes of cicatricial entropion as well as the preoperative and postoperative ophthalmic examination findings were recorded. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5935/0004-2749.20180011DOI Listing
October 2018
40 Reads

Evaluation of transconjunctival thermal electrocautery for treatment of canine distichiasis: 88 eyelids (2013-2016).

Vet Ophthalmol 2019 Jan 1;22(1):50-60. Epub 2018 Mar 1.

BluePearl Veterinary Partners, Veterinary Specialty and Emergency Center, Levittown, PA, USA.

Objective: To describe a successful, simple treatment for canine distichiasis.

Animals Studied: Client-owned dogs presenting to Veterinary Specialty and Emergency Center, Levittown, Pennsylvania.

Procedure: Retrospective analysis of medical records for canine patients that underwent transconjunctival thermal electrocautery treatment (TCEC) for distichiasis alone or with concurrent eyelid surgery between 2013 and 2016. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/vop.12565DOI Listing
January 2019
20 Reads

A screening method to distinguish syndromic from sporadic spinal extradural arachnoid cyst.

J Orthop Sci 2018 May 16;23(3):455-458. Epub 2018 Feb 16.

Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, 108-8639, Japan. Electronic address:

Background: Spinal extradural arachnoid cyst (SEDAC) is a cystic lesion that protrudes into the epidural space from a small dural defect. Early diagnosis of SEDAC is important because its expansion causes neurological damage. Two types of SEDAC, syndromic and sporadic, are present. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S09492658183003
Publisher Site
http://dx.doi.org/10.1016/j.jos.2018.01.010DOI Listing
May 2018
48 Reads
1.010 Impact Factor

Novel FOXC2 Mutation and Distichiasis in a Patient With Lymphedema-Distichiasis Syndrome.

Ophthalmic Plast Reconstr Surg 2018 May/Jun;34(3):e88-e90

Department of Ophthalmology and Visual Sciences, Vanderbilt Eye Institute.

A 4 year-old-boy was referred for distichiasis of the upper and lower lids of both eyes that had been present since at least 1 year of age. The patient's family history was notable for distichiasis and lymphedema affecting numerous family members. The patient was found to have a novel heterozygous variant (c. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/IOP.0000000000001079DOI Listing
July 2018
5 Reads

Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.

Eur J Hum Genet 2018 02 18;26(2):210-219. Epub 2018 Jan 18.

Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584CG, The Netherlands.

Blepharocheilodontic syndrome (BCDS) consists of lagophthalmia, ectropion of the lower eyelids, distichiasis, euryblepharon, cleft lip/palate and dental anomalies and has autosomal dominant inheritance with variable expression. We identified heterozygous variants in two genes of the cadherin-catenin complex, CDH1, encoding E-cadherin, and CTNND1, encoding p120 catenin delta1 in 15 of 17 BCDS index patients, as was recently described in a different publication. CDH1 plays an essential role in epithelial cell adherence; CTNND1 binds to CDH1 and controls the stability of the complex. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-017-0010-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838974PMC
February 2018
32 Reads

Lymphedema-Distichiasis Syndrome in a Male Patient Followed for 16 Years.

Ophthalmic Plast Reconstr Surg 2018 Mar/Apr;34(2):e63-e65

Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan Medical School, Ann Arbor, Michigan, U.S.A.

Distichiasis is a challenging condition that may require multiple surgical interventions. Besides ophthalmologic concerns in children, distichiasis may be part of the lymphedema-distichiasis syndrome, which presents with lymphedema of variable time of onset. Other significant systemic disorders such as coarctation of the aorta and varicose veins have been reported in association with this syndrome and must be reviewed for proper patient care. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/IOP.0000000000001037DOI Listing
July 2018
11 Reads

Modified treatment of distichiasis with direct tarsal strip excision without mucosal graft.

Orbit 2018 Oct 9;37(5):341-343. Epub 2018 Jan 9.

a Department of Ophthalmology, Assaf Harofeh Medical Center, Zerifin, Affiliated to the Sackler Faculty of Medicine , Tel Aviv University , Tel Aviv , Israel.

Purpose: To describe a new modified technique of direct tarsal excision for treatment of distichiasis.

Methods: Retrospective review of consecutive patients who underwent direct tarsal excision without grafting to treat distichiasis between December 2007 and November 2015. Gender, number of eyelids treated, follow-up time, and surgical outcome were recorded. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/01676830.2017.1423356DOI Listing
October 2018
7 Reads

A new surgical technique for congenital distichiasis.

Orbit 2018 Apr 23;37(2):87-90. Epub 2017 Oct 23.

a Oculoplastic Division , King Khaled Eye Specialist Hospital , Riyadh , Saudi Arabia.

Purpose: To describe a new technique to treat congenital distichiasis.

Methods: Case series of three distichiatic patients undergoing a novel surgical technique combining splitting of the lid margin with the distichiatic lashes, marginal tarsectomy in the affected area, and tarsoconjunctival graft obtained from the upper region of the tarsus. The graft was sutured at the exposed region of the marginal tarsectomy. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/01676830.2017.1383454DOI Listing
April 2018
8 Reads

A Novel Mutation in the FOXC2 Gene: A Heterozygous Insertion of Adenosine (c.867insA) in a Family with Lymphoedema of Lower Limbs without Distichiasis.

Radiol Oncol 2017 Sep 6;51(3):363-368. Epub 2017 Jul 6.

University Clinic of Respiratory and Allergic Diseases Golnik, Golnik, Slovenia.

Background: Primary lymphoedema is a rare genetic disorder characterized by swelling of different parts of the body and highly heterogenic clinical presentation. Mutations in several causative genes characterize specific forms of the disease. FOXC2 mutations are associated with lymphoedema of lower extremities, usually distichiasis and late onset. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1515/raon-2017-0026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5612002PMC
September 2017
13 Reads

Congenital distichiasis: Histopathological report of 3 cases.

Saudi J Ophthalmol 2017 Jul-Sep;31(3):165-168. Epub 2017 May 18.

Department of Pathology and Oculoplastic Division, King Khaled Eye Specialist Hospital, Saudi Arabia.

Distichiasis is a condition clinically presenting as partial or complete accessory row of lashes that emerges from the meibomian glands orifices. It can be an acquired or congenital with an autosomal dominant inheritance. The histopathological features are not well described in the ophthalmic literature, however they include abnormal pilosebaceous units within the posterior lamella of the eyelid and perifollicular chronic inflammatory cell infiltration. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.sjopt.2017.05.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5569325PMC
May 2017
19 Reads

Foxc2 influences alveolar epithelial cell differentiation during lung development.

Dev Growth Differ 2017 Aug 4;59(6):501-514. Epub 2017 Jul 4.

First Department of Medicine, Tokyo Women's Medical University, Tokyo, Japan.

FOXC2, a forkhead transcriptional factor, is a candidate gene for congenital heart diseases and lymphedema-distichiasis syndrome and yellow nail syndrome; however, there are no reports on Foxc2 and the development of the lung. We have identified lung abnormalities in Foxc2-knockout embryos during investigation of cardiac development. The aim of this study was to clarify the morphological characteristics during lung development using ICR-Foxc2 knockout lungs. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/dgd.12368DOI Listing
August 2017
27 Reads

Renal anomalies and lymphedema distichiasis syndrome. A rare association?

Am J Med Genet A 2017 Aug 23;173(8):2251-2256. Epub 2017 May 23.

Department of Clinical Genetics, University Hospitals Leicester NHS Trust, Leicester, United Kingdom.

Lymphedema distichiasis syndrome (LDS) is a rare, autosomal dominant genetic condition, characterized by lower limb lymphedema and distichiasis. Other associated features that have been reported include varicose veins, cleft palate, congenital heart defects, and ptosis. We update a previously reported family with a pathogenic variant in FOXC2 (c. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38293DOI Listing
August 2017
62 Reads

Rare Variants in LAMA5 Gene associated with FLT4 and FOXC2 Mutations in Primary Lymphedema May Contribute to Severity.

Lymphology 2016 Dec;49(4):192-204

Mutations in the Fms-related tyrosine kinase 4 (FLT4) and forkhead box protein C2 (FOXC2) genes cause Milroy disease (MD) and lymphedema-distichiasis syndrome (LDS), respectively, but the mechanism underlying disease pathology remains unclear. Applying whole-exome sequencing to two families with MD, one LDS family, and one sporadic LDS case, we identified four rare variants in the laminin subunit alpha-5 gene (LAMA5) in subjects carrying novel and known missense FLT4 mutations and a 7-bp duplication and 1-bp insertion in FOXC2. Phenotyping was expanded in some individuals using magnetic resonance lymphangiography, indiocyanine green fluorescence lymphography, and immunofluorescent lymphatic staining of skin tissue. Read More

View Article

Download full-text PDF

Source
December 2016
6 Reads

Isolated ectopic cilia in an 11-year-old girl.

GMS Ophthalmol Cases 2016 12;6:Doc13. Epub 2016 Oct 12.

Department of Ophthalmology, Minia University, Minia, Egypt.

Ectopic cilia (EC) are a very rare condition with only few cases reported in literature. Many associations were seen with ectopic cilia which include distichiasis, choristoma and aberrant lacrimal gland, hypochromic nevus, atopic eczema and others. We are reporting a case of an 11-year-old girl with isolated left upper lid ectopic cilia, which was confirmed by surgical removal and histopathological study. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3205/oc000050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5070482PMC
October 2016
16 Reads

Early Mandibular Distraction to Relieve Robin Severe Airway Obstruction in Two Siblings with Lymphedema-Distichiasis Syndrome.

J Maxillofac Oral Surg 2016 Sep 18;15(3):384-389. Epub 2015 Mar 18.

Department of Maxillofacial Surgery, Sapienza University of Rome, Rome, Italy.

Although micrognathia and cleft palate have been reported in patients with Lymphedema-distichiasis syndrome (LDS), the classic Robin sequence with glossoptosis and airway obstruction has not been previously described in patients with genetically confirmed LDS. Here we report on two female siblings with LDS confirmed by a mutation who presented at birth with severe airway obstruction related to Robin sequence. Respiratory obstruction was successfully managed by early distraction osteogenesis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12663-015-0774-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5048309PMC
September 2016
33 Reads

Novel FOXC2 Mutation in Hereditary Distichiasis Impairs DNA-Binding Activity and Transcriptional Activation.

Int J Biol Sci 2016 6;12(9):1114-20. Epub 2016 Aug 6.

Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.

Distichiasis presents as double rows of eyelashes arising from aberrant differentiation of the meibomian glands of the eyelids, and it may be sporadic or hereditary. FOXC2 gene mutations in hereditary distichiasis are rarely reported. Here, we examined two generations of a Chinese family with hereditary distichiasis but without lymphedema or other features of LD syndrome. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7150/ijbs.13774DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4997055PMC
November 2017
17 Reads

Integration-free T cell-derived human induced pluripotent stem cells (iPSCs) from a patient with lymphedema-distichiasis syndrome (LDS) carrying an insertion-deletion complex mutation in the FOXC2 gene.

Stem Cell Res 2016 05 18;16(3):611-3. Epub 2016 Mar 18.

Department of Dermatology, The Jikei University School of Medicine, Tokyo, Japan.

Expanded human T cells from a Japanese male with lymphedema-distichiasis syndrome (LDS) were used to generate integration-free induced pluripotent stem cells (iPSCs) by exogenous expression of four reprogramming factors, OCT3/4, SOX2, cMYC, KLF4, using Sendai virus vector (SeVdp). The authenticity of established iPSC line, LDS-iPSC8, was confirmed by the expression of stem cell markers and the differentiation capability into three germ layers. LDS-iPSC8 may be a useful cell resource for the establishment of in vitro LDS modeling and the study for vascular and lymph vessel development. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.scr.2016.03.004DOI Listing
May 2016
6 Reads

FOXC2 disease-mutations identified in lymphedema-distichiasis patients cause both loss and gain of protein function.

Oncotarget 2016 08;7(34):54228-54239

MAGI Non-Profit Human Medical Genetics Institute, Rovereto (TN), Italy.

Dominant mutations in the FOXC2 gene cause a form of lymphedema primarily of the limbs that usually develops at or after puberty. In 90-95% of patients, lymphedema is accompanied by distichiasis. FOXC2 is a member of the forkhead/winged-helix family of transcription factors and plays essential roles in different developmental pathways and physiological processes. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.18632/oncotarget.9797DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5342337PMC
August 2016
34 Reads

Ocular Findings in Children With 22q11.2 Deletion Syndrome.

J Pediatr Ophthalmol Strabismus 2016 Jul 17;53(4):218-22. Epub 2016 May 17.

Purpose: To identify the ocular features of children diagnosed as having 22q11.2 deletion syndrome in a Turkish population, which is the most common microdeletion syndrome with a wide range of facial and ocular abnormalities.

Methods: Sixteen children aged between 4 months and 18 years with a microdeletion in chromosome 22q11. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3928/01913913-20160427-01DOI Listing
July 2016
7 Reads

The effect of repeated eye examinations and breeding advice on the prevalence and incidence of cataracts and progressive retinal atrophy in German dachshunds over a 13-year period.

Vet Ophthalmol 2017 Mar 13;20(2):114-122. Epub 2016 Apr 13.

Clinic for Small Animal Surgery and Reproduction, Veterinary Faculty, Ludwig Maximilians University Munich, Veterinärstr. 13, Munich, Germany.

Objective: To analyze the change in prevalence and incidence of hereditary eye diseases (HED) in dachshunds due to breeding regulations based on biennial examinations performed by the German panel of veterinary ophthalmologists (DOK) from 1998 to 2011.

Animals Included: A total of 12 242 dachshunds examined by the DOK and pedigree data of 318 852 dachshunds provided by the German Dachshund Club (DTK).

Procedures: The prevalence of congenital cataract (CC), distichiasis (DIST), hereditary cataract (HC), persistent pupillary membranes (PPMs), persistent hyperplastic tunica vasculosa lentis / persistent hyperplastic primary vitreous (PHTVL/PHPV), progressive retinal atrophy (PRA), retinal dysplasia (RD), and findings such as fiberglass-like cataract (FGC) and prominent suture lines (PSLs) was analyzed. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/vop.12378DOI Listing
March 2017
40 Reads

One-Stage Alternatives to the Hughes Procedure for Reconstruction of Large Lower Eyelid Defects: Surgical Techniques and Outcomes.

Ophthalmic Plast Reconstr Surg 2016 Mar-Apr;32(2):145-9

*University Hospital of Wales, Cardiff, United Kingdom; †Manchester Royal Eye Hospital, Manchester, United Kingdom; ‡Drummoyne Day Surgery Centre, Sydney, Australia; and §Sydney Eye Hospital, Sydney, Australia.

Purpose: To present the results of 1-stage surgical advancement flaps for the repair of large full thickness lower eyelid defects. These avoid the disadvantages of the 2-stage Hughes procedure and provide favorable functional and aesthetic outcomes.

Methods: A retrospective case series of 36 lower eyelid repairs performed on 31 patients by a single surgeon in Sydney, Australia is presented. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/IOP.0000000000000622DOI Listing
August 2016
32 Reads

Lymphoedema-distichiasis syndrome.

BMJ Case Rep 2016 Jan 11;2016. Epub 2016 Jan 11.

Department of Ophthalmology, Garcia de Orta Hospital, Lisbon, Portugal Department of Ophthalmology, Garcia de Orta Hospital, Almada, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/bcr-2015-213651DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4716369PMC
January 2016
9 Reads

Generation of Human Induced Pluripotent Stem Cells from Extraembryonic Tissues of Fetuses Affected by Monogenic Diseases.

Cell Reprogram 2015 Aug;17(4):275-87

1 Department of Biomedicine and Prevention, Tor Vergata University of Rome , Rome, 00133, Italy .

The generation of human induced pluripotent stem cells (hiPSCs) derived from an autologous extraembryonic fetal source is an innovative personalized regenerative technology that can transform own-self cells into embryonic stem-like ones. These cells are regarded as a promising candidate for cell-based therapy, as well as an ideal target for disease modeling and drug discovery. Thus, hiPSCs enable researchers to undertake studies for treating diseases or for future applications of in utero therapy. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/cell.2015.0003DOI Listing
August 2015
13 Reads

Prevalence and heritability of distichiasis in the English Cocker spaniel.

Canine Genet Epidemiol 2015 2;2:11. Epub 2015 Aug 2.

Animal Genetics, Department of Veterinary Clinical and Animal Science, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

Background: Canine distichiasis is a well-known cause of ocular irritation and excessive lacrimation (secretion of tears) in the dog. The term distichiasis originates from the Greek words di and stichos meaning two and rows, respectively, and as the name implies, the condition is characterized by an additional row of cilia, which erupts on the eyelid margin. Many purebred dogs are known to be predisposed to the condition, with many affected individuals within the populations. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s40575-015-0024-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4579384PMC
September 2015
12 Reads

FOXC2 and fluid shear stress stabilize postnatal lymphatic vasculature.

J Clin Invest 2015 Oct 21;125(10):3861-77. Epub 2015 Sep 21.

Biomechanical forces, such as fluid shear stress, govern multiple aspects of endothelial cell biology. In blood vessels, disturbed flow is associated with vascular diseases, such as atherosclerosis, and promotes endothelial cell proliferation and apoptosis. Here, we identified an important role for disturbed flow in lymphatic vessels, in which it cooperates with the transcription factor FOXC2 to ensure lifelong stability of the lymphatic vasculature. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1172/JCI80454DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4607114PMC
October 2015
59 Reads

Lymphedema-distichiasis syndrome.

CMAJ 2016 Feb 29;188(2):E44. Epub 2015 Jun 29.

St. James's Hospital and Trinity College, Dublin, Ireland

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1503/cmaj.141029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4732980PMC
February 2016
6 Reads

[Distichiasis: an anomaly of eyelashes].

Pan Afr Med J 2015 21;20:55. Epub 2015 Jan 21.

Centre Hospitalier Universitaire - Institut d'Ophtalmologie Tropicale d'Afrique Boulevard du Peuple, Bamako, Mali.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.11604/pamj.2015.20.55.6044DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4449979PMC
March 2016
46 Reads

A novel FOXC2 mutation in spinal extradural arachnoid cyst.

Hum Genome Var 2015 17;2:15032. Epub 2015 Sep 17.

Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences , Tokyo, Japan.

Spinal extradural arachnoid cyst (SEDAC) is a cyst in the spinal canal, which causes spinal cord compression and subsequent neurological damage. We previously identified two FOXC2 mutations in two SEDAC families. The FOXC2 mutations have been shown to be responsible for lymphedema-distichiasis syndrome (LDS), which includes SEDAC as an occasionally associated phenotype. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/hgv.2015.32DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785541PMC
April 2016
31 Reads

Genetics of strabismus and lid diseases.

J Pediatr Genet 2014 Dec;3(4):281-90

College of Ophthalmology and Allied Vision Sciences, King Edward Medical University, Lahore, Pakistan.

The prevalence of congenital ocular malformations has been described to vary from 0.04 to 6.8 per 10,000 live births. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3233/PGE-14109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5021000PMC
December 2014
6 Reads

Ectopia cilia with pedigree analysis: Second case report in the world.

Indian J Hum Genet 2014 Apr;20(2):185-6

Department of Medicine, Muzaffarnagar Medical College and Hospital, Muzaffarnagar, Uttar Pradesh, India.

We present a case of ectopia cilia in a 28-year-old male patient. Ectopia cilia was were seen in the outer third of left upper eyelid. The patient's maternal grandfather also had ectopia cilia of the left upper eyelid as reported by the patient's mother. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/0971-6866.142897DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228571PMC
April 2014
35 Reads

A retrospective survey of ocular abnormalities in pugs: 130 cases.

J Small Anim Pract 2015 Feb 5;56(2):96-102. Epub 2014 Nov 5.

Department of Companion Animals and Horses, University of Veterinary Medicine, Vienna, 1210, Austria.

Objectives: To determine the types and frequency of ophthalmic findings in pugs.

Materials And Methods: Retrospective analysis of case records of pugs presented to an ophthalmology unit between 2001 and 2012. Ophthalmological findings were correlated with age, gender, presenting signs and time of onset of disease. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jsap.12291DOI Listing
February 2015
6 Reads

A five generation family with a novel mutation in FOXC2 and lymphedema worsening to hydrops in the youngest generation.

Am J Med Genet A 2014 Nov 22;164A(11):2802-7. Epub 2014 Sep 22.

Department of Pathology, University of Cambridge, Tennis Court Road, Cambridge, UK.

We describe a five generation family with dominantly inherited lymphedema, but no distichiasis, in which 3/3 affected offspring in the fifth generation have died of fetal hydrops and related birth defects. Mutational analysis disclosed a novel mutation in FOXC2 (R121C) in affected members. We searched for possible genetic influences on the greater severity of lymphedema (hydrops) in the fifth generation. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36736DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4205179PMC
November 2014
23 Reads

A Chinese pedigree of lymphoedema-distichiasis syndrome with a novel mutation in the FOXC2 gene.

Clin Exp Dermatol 2014 Aug 1;39(6):731-3. Epub 2014 Jul 1.

Department of Dermatology, No.1 Hospital of China Medical University, China; Department of Dermatology, The People's Hospital of Liaoning Province, China.

Lymphoedema-distichiasis syndrome (LDS) is a syndromic form of primary lymphoedema associated with double rows of eyelashes (distichiasis). Mutations in the FOXC2 gene were reported to be associated with this syndrome. In this study, we identified in a Chinese LDS pedigree a novel FOXC2 gene mutation, C. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ced.12389DOI Listing
August 2014
13 Reads

Blepharo-cheilo-dontic (BCD) syndrome: expanding the phenotype, case report and review of literature.

Am J Med Genet A 2014 Jun 9;164A(6):1525-9. Epub 2014 Apr 9.

Division of Genetics, Department of Pediatrics, King Abdul Aziz Medical City for National Guard, Riyadh, Saudi Arabia.

The combination of lagophthalmia, euryblepharon, ectropion of lower eyelids, distichiasis, bilateral cleft lip and palate, and oligodontia comprises the blepharo-cheilo-dontic (BCD) syndrome. This combination has been found sporadically or with positive family history and inherited as an autosomal dominant condition with variable expression. We described a Saudi boy with the cardinal signs consistent with the BCD syndrome. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36465DOI Listing
June 2014
12 Reads

[Transplants from the hard palate: method for mucosal graft reconstruction of the upper eyelid].

Ophthalmologe 2014 Sep;111(9):853-61

Universitätsaugenklinik Salzburg, Paracelsus Medizinische Privatuniversität, Müllner Hauptstr. 48, 5020, Salzburg, Österreich,

Background: Mucosal grafts from the hard palate for reconstruction of the posterior lamella of the upper eyelid were compared for three different indications. The plastic reconstruction of the upper eyelid was carried out in patients with symblepharon and upper eyelid entropion following an autoimmune disease, in patients with subtotal or total upper eyelid resection due to a neoplasm and in patients with mucous membrane trauma using autogenous mucosal grafts from the hard palate.

Patients: In this retrospective comparative interventional case series 23 eyes from 19 patients were included in whom upper eyelid reconstruction was undertaken at the University Eye Hospital in Salzburg between 2001 and 2012. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00347-013-3002-zDOI Listing
September 2014
22 Reads

[Treatment of varicose veins and limb lymphedema].

Authors:
S Vignes

J Mal Vasc 2014 Feb 6;39(1):57-61. Epub 2013 Dec 6.

Unité de lymphologie, Centre national de référence des maladies vasculaires rares (lymphœdèmes primaires), hôpital Cognacq-Jay, 15, rue Eugène-Millon, 75015 Paris, France. Electronic address:

Two questions arise when considering the treatment of varicose veins and the development of lymphedema: can the treatment cause lymphedema? Can it worsen it? Primary lymphedema is rarely associated with varicose veins except in the lymphedema-distichiasis syndrome. Data available in the literature is essentially based on surgical treatment. Stripping on a normal limb may induce chronic lymphedema in almost 0. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jmv.2013.11.003DOI Listing
February 2014
17 Reads

FOXC2 mutations in familial and sporadic spinal extradural arachnoid cyst.

PLoS One 2013 22;8(11):e80548. Epub 2013 Nov 22.

Laboratory of Bone and Joint Diseases, Center for Integrative Medical Sciences, RIKEN, Tokyo, Japan ; Department of Orthopaedic Surgery, School of Medicine, Keio University, Tokyo, Japan.

Spinal extradural arachnoid cyst (SEDAC) is a cyst in the spinal canal that protrudes into the epidural space from a defect in the dura mater. Most cases are sporadic; however, three familial SEDAC cases have been reported, suggesting genetic etiological factors. All familial cases are associated with lymphedema-distichiasis syndrome (LDS), whose causal gene is FOXC2. Read More

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0080548PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3838418PMC
September 2014
52 Reads

Lymphedema in a patient with distichiasis.

Int J Dermatol 2014 Jun 11;53(6):754-5. Epub 2013 Nov 11.

College of Medicine, Mayo Clinic, Rochester, MN, USADivision of Clinical Dermatology, Mayo Clinic, Rochester, MN, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1365-4632.2012.05594.xDOI Listing
June 2014
6 Reads

Distichiasis in a ferret (Mustela putorius furo).

Vet Ophthalmol 2014 Jul 14;17(4):290-3. Epub 2013 Oct 14.

Section of Ophthalmology, Department of Clinical Sciences of Companion Animals, Faculty of Veterinary Medicine, Utrecht University, Utrecht, The Netherlands.

A 4-year-old intact male ferret was presented to the Ophthalmology Service of the Department of Clinical Sciences of Companion Animals of Utrecht University with chronic blepharospasm, epiphora, and conjunctivitis of the right eye. Examination of the eye revealed mild conjunctivitis and three hairs protruding from the openings of meibomian glands in the upper eyelid, providing the clinical diagnosis of distichiasis. The distichia were removed by transconjunctival unipolar electrocautery. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/vop.12107DOI Listing
July 2014
14 Reads