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Genes (Basel) 2021 Apr 27;12(5). Epub 2021 Apr 27.

MAGI'S Lab, 38068 Rovereto, Italy.

Forkhead-box C2 (FOXC2) is a transcription factor involved in lymphatic system development. mutations cause Lymphedema-distichiasis syndrome (LD). Recently, a natural antisense was identified, called lncRNA FOXC2-AS1, which increases mRNA stability. Read More

Am J Ophthalmol 2021 Apr 24;229:45-51. Epub 2021 Apr 24.

From the Eye Research Center, Mashhad University of Medical Sciences (S.Z.G., G.Z.), and Department of Statistics, Ferdowsi University of Mashhad (M.J.N.), Mashhad, Iran. Electronic address:

Purpose: This study is aimed at comparing the effects of tea tree oil (TTO) shampoo with regular eyelid shampoo on the treatment of meibomian gland dysfunction (MGD) signs and symptoms.

Design: Double-masked randomized clinical trial METHODOLOGY: Forty patients with MGD were treated by daily eyelid scrubbing with TTO shampoo in one eye and regular eyelid shampoo in the other one. Before treatment and then after 1 and 3 months, the effect on ocular surface symptoms, tear production and stability, and conjunctival and eyelid signs of the 2 eyes were compared. Read More

Vet Surg 2021 Apr 20. Epub 2021 Apr 20.

Visionvet, Eye Clinic, San Giovanni in Persiceto, Bologna, Italy.

Objectives: To describe the use of direct-contact diode laser as a new treatment for distichiasis.

Study Design: Case report.

Animals: A 2-month-old Italian Friesian calf with bilateral excessive tearing and corneal opacification was presented to the Visionvet Eye Clinic. Read More

BMC Genomics 2020 Nov 30;21(1):848. Epub 2020 Nov 30.

Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California-Davis, Davis, CA, USA.

Background: Distichiasis, an ocular disorder in which aberrant cilia (eyelashes) grow from the opening of the Meibomian glands of the eyelid, has been reported in Friesian horses. These misplaced cilia can cause discomfort, chronic keratitis, and corneal ulceration, potentially impacting vision due to corneal fibrosis, or, if secondary infection occurs, may lead to loss of the eye. Friesian horses represent the vast majority of reported cases of equine distichiasis, and as the breed is known to be affected with inherited monogenic disorders, this condition was hypothesized to be a simply inherited Mendelian trait. Read More

Zhejiang Da Xue Xue Bao Yi Xue Ban 2020 Oct;49(5):581-585

Department of Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, Key Laboratory of Reproductive Genetics, Ministry of Education, Hangzhou 310006, China.

Objective: To identify the genetic causes of a family with lymphedema-distichiasis syndrome (LDS).

Methods: The whole exome sequencing was performed in a aborted fetus as the proband, and a candidate gene was identified. Peripheral blood of 8 family members were collected. Read More

Am J Med Genet A 2021 01 27;185(1):150-156. Epub 2020 Oct 27.

Virtus Diagnostics, East Melbourne, Victoria, Australia.

Lymphedema distichiasis syndrome (LDS) is a rare autosomal dominant condition characterized by lower limb lymphedema, distichiasis, and variable additional features. LDS is usually caused by heterozygous sequence variants in the FOXC2 gene located at 16q24, but in one previous instance LDS has resulted from a balanced reciprocal translocation with a breakpoint at 16q24, 120 kb distal to the FOXC2 gene suggesting a position effect. Here, we describe a second family with LDS caused by a translocation involving 16q24. Read More

Vet Rec 2020 11 14;187(11):e102. Epub 2020 Oct 14.

Department of Ophthalmology, The Royal Veterinary College, North Mymms, UK.

Objective: To describe a population of dogs treated with blend electrolysis for distichiasis at The Royal Veterinary College and report the complications seen.

Methods: In part 1, records were reviewed from 2012 to 2017 and a population of 78 dogs with distichiasis treated using blend electrolysis (Sterex SX-B blend epilator) analysed. In part 2, 18 dogs treated with blend electrolysis were re-examined prospectively by a diplomate of the European College of Veterinary Ophthalmologists (ECVO). Read More

Ophthalmologe 2020 Sep;117(9):949-961

Augenklinik, Ludwig-Maximilians-Universität München, Mathildenstr. 8, 80336, München, Deutschland.

Corneal changes associated with eyelid disease are frequent and can considerably complicate the course of the disease. They can manifest as refraction anomalies, corneal degeneration, ocular surface disease, corneal infiltrates, corneal vascularization and corneal ulceration up to corneal perforation. Pathophysiologically relevant are compressive forces, exposure, trichiasis and distichiasis, eye rubbing, inflammation and infection. Read More

Int J Mol Sci 2020 Jul 20;21(14). Epub 2020 Jul 20.

Laboratory of Molecular Genetics, International Association of Medical Genetics, MAGI's Lab s.r.l., 38068 Rovereto, Italy.

is a member of the human forkhead-box gene family and encodes a regulatory transcription factor. Mutations in have been associated with lymphedema distichiasis (LD), an autosomal dominant disorder that primarily affects the limbs. Most patients also show extra eyelashes, a condition known as distichiasis. Read More

Orbit 2021 Aug 25;40(4):301-305. 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

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

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

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

Prenat Diagn 2020 04 17;40(5):590-595. Epub 2020 Feb 17.

Department of Gynecology and Obstetrics, Division of Maternal Fetal Medicine, Johns Hopkins School of Medicine, Baltimore, MD, USA.

Objective: We sought to evaluate the performance of exome sequencing (ES) in determining an underlying genetic etiology for cases of fetal pleural effusions.

Study Design: We examined a prospective cohort series of fetal pleural effusions visualized sonographically between 1 April 2016 and 31 August 2017. Fetal pleural effusions attributed to twin sharing, anemia, or structural anomalies were excluded, as were all cases with a genetic diagnosis established by karyotype or chromosomal microarray analysis. Read More

Breast J 2020 05 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

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

Br J Ophthalmol 2020 07 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

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

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

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

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

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

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

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

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

Department of Pediatrics, University of California, San Francisco, Benioff Children's Hospital, San Francisco, CA, 94158, USA.

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

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

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

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

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