Distichiasis

Interstitial deletions of 16q24.1-q24.2 are associated with alveolar capillary dysplasia, congenital renal malformations, neurodevelopmental disorders, and congenital abnormalities. Lymphedema-Distichiasis syndrome (LDS; OMIM # 153400) is a dominant condition caused by heterozygous pathogenic variants in FOXC2. Usually, lymphedema and distichiasis occur in puberty or later on, and affected individuals typically achieve normal developmental milestones. Here, we describe a boy with congenital lymphedema, distichiasis, bilateral hydronephrosis, and global developmental delay, with a de novo microdeletion of 894 kb at 16q24...

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...

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 2.3 years. There were 64 females and 48 males. The most represented breeds were the Shi Tzu, the French Bulldog, the English Bulldog and the Chihuahua...

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. RESULTS: A total of 1156 Havanese were included in the study. Out of these, 168 were affected with distichiasis, making the prevalence in our sample 14...

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. Spectral-domain optical coherence tomography (SD-OCT) was performed for dogs with sudden acquired retinal degeneration syndrome (SARDS) and progressive retinal atrophy (PRA), while electroretinography was also performed in dogs with SARDS...

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...

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. On evaluation, the diagnosis of acquired distichiasis was made and was surgically managed by direct tarsal strip excision...

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. The authors describe four pediatric patients with distichiasis (one with genetically proven LDS) with refractive amblyopia secondary to astigmatism...

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. We showed that both embryonic and postnatal ablation of Foxo1 in LECs induced additional valve formation in postnatal and adult mice in multiple tissues...

Forkhead-box C2 (FOXC2) is a transcription factor involved in lymphatic system development. FOXC2 mutations cause Lymphedema-distichiasis syndrome (LD). Recently, a natural antisense was identified, called lncRNA FOXC2-AS1, which increases FOXC2 mRNA stability. No studies have evaluated FOXC2 and FOXC2-AS1 blood expression in LD and healthy subjects. Here, we show that FOXC2 and FOXC-AS1 expression levels were similar in both controls and patients, and a significantly higher amount of both RNAs was observed in females...

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...

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. Abnormalities on ophthalmic examination included epiphora, seromucous discharge, bilateral distichiasis and secondary chronic keratitis affecting both eyes. METHODS: Distichiae were surgically removed after insertion of the 810-nm diode laser tip into the associated meibomian gland...

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...

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. Genotypic-phenotypic analysis were carried out through PCR amplification and Sanger sequencing. RESULTS: The proband, and the mother, grandmother, uncle, granduncle of the proband all had distichiasis or varix of lower limb carried a FOXC2 :c...

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...

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)...

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. A multitude of eyelid diseases is associated with diseases of the cornea including eyelid malposition, eyelid tumors, eyelid infections, allergic eyelid dermatitis, blepharitis, meibomitis, and Meibomian gland disease...

FOXC2 is a member of the human forkhead-box gene family and encodes a regulatory transcription factor. Mutations in FOXC2 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. We previously reported genetic and clinical findings in six unrelated families with LD. Half the patients showed missense mutations, two carried frameshift mutations and a stop mutation was identified in a last patient...

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...

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. Suspected variant was validated by Sanger sequencing. Western blotting was used to detect changes in protein expression. RESULTS: The proband and his mother were both found to carry a heterozygous nonsense variant c...