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Exp Eye Res 2022 Jun 15:109136. Epub 2022 Jun 15.

Health Management Center, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China; Sichuan Provincial Key Laboratory for Human Disease Gene Study and Department of Laboratory Medicine, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China; Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences (2019RU026), Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China. Electronic address:

Lymphedema-dissociated syndrome (LDS), of which the pathogenesis is not fully understood, afflicts many patients. In this study, we investigated the effect of FOXC2 gene loss-of-function on the development of LDS disease.Two Han Chinese families with LDS were recruited in this study, pathogenic mutations were identified by Sanger sequencing. Read More

J Vasc Surg Venous Lymphat Disord 2022 Jun 14. Epub 2022 Jun 14.

Australian Lymphoedema Education, Research and Treatment (ALERT), Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, Australia.

Objective: Retrograde movement of lymph due to damaged and/or incompetent valves in the lymphatic vessels has been considered a pathological feature of lymphedema. This study aimed to determine the prevalence of retrograde lymph flow and the characteristics of patients with this condition using indocyanine green (ICG) lymphography.

Methods: An audit of 679 patients with upper or lower limb swelling who underwent ICG lymphography was undertaken over a 4-year period. Read More

Indian J Ophthalmol 2022 Apr;70(4):1100-1106

Ocular Surface and Adnexa Services; Centre for Ocular Regeneration (CORE), L V Prasad Eye Institute, Hyderabad, Telangana, India.

Distichiasis, an extra row of eyelashes emerging from meibomian gland orifices, occurs due to the metaplastic transition of sebaceous glands into the pilosebaceous unit. It can present congenitally, such as in lymphedema distichiasis syndrome, or secondary to acquired conditions, such as cicatrizing conjunctivitis, trachoma. This review summarizes the etiology of distichiasis, its presentation, the evolution of various surgical techniques, and their outcomes in human and animal eyes. Read More

Am J Med Genet A 2022 Jul 21;188(7):1990-1996. Epub 2022 Mar 21.

The Genetic Institute of Maccabi Health Medicinal Organization, Tel-Aviv, Israel.

Interstitial deletions of 16q24.1-q24.2 are associated with alveolar capillary dysplasia, congenital renal malformations, neurodevelopmental disorders, and congenital abnormalities. Read More

Curr Eye Res 2022 Mar 28:1-5. Epub 2022 Mar 28.

Ophthalmic Pathology Laboratory, LV Prasad Eye Institute, Hyderabad, India.

Purpose: To analyze the histopathological changes in eyelash following electroepilation using radiofrequency (RF) cautery.

Methods: RF current was applied to the eyelash root in human eyelids (from exenteration or eyelid shortening procedures) at a pre-determined depth of 3 mm excision a-priori, and processed for routine histology. Studied parameters were the extent of necrosis, involvement of the eyelash bulb, and type of bulb damage (partial or whole necrosis). Read More

Orphanet J Rare Dis 2022 02 28;17(1):86. Epub 2022 Feb 28.

Department of Genetic, University Hospital Center of Reims, Reims, France.

Background: We studied a young woman with atypical diabetes associated with mild intellectual disability, lymphedema distichiasis syndrome (LDS) and polymalformative syndrome including distichiasis. We used different genetic tools to identify causative pathogenic mutations and/or copy number variations.

Results: Although proband's, diabetes mellitus occurred during childhood, type 1 diabetes was unlikely due to the absence of detectable autoimmunity. Read More

J Fr Ophtalmol 2022 Mar 29;45(3):298-305. Epub 2022 Jan 29.

University Hospitals Bristol and Weston NHS Foundation Trust, Bristol Eye Hospital, Lower Maudlin Street, Bristol, BS1 2LX, United Kingdom.

Purpose: To investigate the efficacy of electrolysis for the treatment of trichiasis and distichiasis and compare success rates as a function of the eyelid treated, the indication for electrolysis and seniority of the surgeon.

Methods: The medical records of all patients who underwent electrolysis for trichiasis or distichiasis from November 2015 to November 2020 were reviewed. Sex, age, indication, eyelid treated, surgeon's educational status, number of electrolysis sessions, outcome, time between sessions and time to the last follow-up were documented. Read More

Vet Ophthalmol 2022 Mar 25;25(2):186-190. Epub 2021 Nov 25.

Département des Sciences Cliniques, Ecole Nationale Vétérinaire de Toulouse, Université Fédérale de Toulouse Midi-Pyrénées, Cedex 3, Toulouse, France.

Objective: The aim of this retrospective study was to review the clinical data and outcomes of patients that suffered ectopic cilium (EC).

Animals Studied: One hundred and twelve dogs from multiple private practices in France, with a clinical diagnosis of EC were included in the study.

Results: The mean age of affected dogs was 2. Read More

Canine Med Genet 2021 Nov 16;8(1):11. Epub 2021 Nov 16.

Center for Quantitative Genetics and Genomics, Aarhus University, dk-8830, Tjele, Denmark.

Background: Distichiasis is a presumed inherited eyelid disease, characterized by misplaced eyelashes. The effect on eye health and animal welfare varies between individuals; most mild cases show no clinical signs, but some affected animals develop painful corneal disease. In this study, we investigated the prevalence and heritability of distichiasis in the Norwegian population of Havanese dogs. Read More

PLoS One 2021 5;16(11):e0258636. Epub 2021 Nov 5.

Small Animals Clinic, University of Veterinary Medicine and Pharmacy in Košice, Košice, Slovakia.

This study aimed to describe and determine the prevalence of ocular abnormalities in Polish Hunting Dogs. The study was conducted with 193 Polish Hunting Dogs: 101 female and 92 male animals, aged between 3 months and 12 years. Ophthalmic examinations were performed using slit lamp biomicroscopy, ophthalmoscopy, and tonometry based on the ophthalmological protocol for the examination of hereditary eye diseases. Read More

Cornea 2022 May;41(5):632-634

The Cornea Institute, L. V. Prasad Eye Institute, Hyderabad, Telangana, India.

Purpose: The purpose of this study was to describe the chronic ocular sequelae and subsequent surgical interventions after amniotic membrane transplantation (AMT) in a patient with Stevens-Johnson syndrome (SJS).

Methods: A 30-year-old woman was diagnosed with SJS after taking phenytoin prescribed for generalized tonic-clonic seizures. Bedside AMT covering the eyelid margins, the conjunctiva, and the cornea was performed in both eyes during the acute phase during hospitalization. Read More

J Craniofac Surg 2022 Jan-Feb 01;33(1):e38-e39

Department of Plastic and Reconstructive Surgery, Saveetha Medical College and Hospital, Kanchipuram, Tamilnadu, India.

Abstract: Distichiasis is a rare condition where the accessory row of eyelashes exit from the posterior lid margin apparently from the opening of the meibomian glands, causing corneal irritation and ulceration. The authors report a rare clinical presentation of acquired distichiasis, as a complication of a preseptal transconjunctival approach. The patient presented with complaints of discomfort over the right eyelid after the management of zygomaticomaxillary complex fracture. Read More

J Pediatr Ophthalmol Strabismus 2021 Jul-Aug;58(4):e16-e18. Epub 2021 Jul 1.

Distichiasis is the presence of accessory eyelashes emerging from the meibomian gland orifices. It may occur as an isolated abnormality or in conjunction with other ocular and systemic defects. Lymphedema-distichiasis syndrome (LDS) is an autosomal dominant disorder characterized by distichiasis and age-dependent lower extremity swelling due to altered lymphatic flow. Read More

J Clin Invest 2021 07;131(14)

Department of Molecular Pharmacology and Physiology, Morsani College of Medicine, University of South Florida, Tampa, Florida, USA.

Patients with congenital lymphedema suffer from tissue swelling in part due to mutations in genes regulating lymphatic valve development. Lymphatic valve leaflets grow and are maintained throughout life in response to oscillatory shear stress (OSS), which regulates gene transcription in lymphatic endothelial cells (LECs). Here, we identified the first transcription factor, Foxo1, that repressed lymphatic valve formation by inhibiting the expression of valve-forming genes. Read More

Genes (Basel) 2021 04 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 09 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 Jul 20;50(5):1164-1168. 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