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Epidemiological, demographic, and economic analyses: measurement of the value of trichiasis surgery in The Gambia.

AIM: Untreated trichiasis can lead to corneal opacity. Surgery to prevent the eyelashes from rubbing against the cornea is available, but many individuals with trichiasis never undergo the operation. This study estimates the cost of illness of untreated trichiasis and the willingness to pay for surgery and compares them with the actual cost of providing surgery. MATERIALS AND METHODS: The cost of illness estimate is based on trichiasis patient demographics. Data on the implicit price of obtaining surgery and surgical utilization in a matched pair randomized trial are used to infer individual …

Two families with dyshidrotic ectodermal dysplasia associated with ingrowth of corneal vessels, limbal hair growth, and Bitôt-like conjunctival anomalies.

Five cases from two unrelated families with a hitherto unknown combination of dyshidrotic ectodermal dysplasia with corneal vessel ingrowth, limbal hair follicles with hairs, and Bitôt-like spots in the conjunctiva are described. The corneal lesions were slowly progressive. In one pedigree, autosomal recessive inheritance is most likely, in the other there is uncertainty about the mode of inheritance. According to the criteria of Pinheiro and Freire-Maya, the mentioned cases can be classified into subgroup 1-2-4. The cases under investigation showed no palisades of Vogt like those seen in anir

Eye diseases in Siberian husky dogs.

A full ophthalmic examination was performed on 40 Siberian husky dogs using direct and indirect ophthalmoscopy, gonloscopy and nasolacrimal cannulation. Eight (20%) of the dogs were found to have distichia, 10 (25%) had excessive medial caruncular hairs, 8 (20%) had absence, displacement, or narrowing of the nasolacrimal puncta, 2 (5%) had bilateral corneal crystalline opacities, and 2 (5%) had unilateral areas of lateral corneal lipidosis. Fifty percent of the dogs had some abnormality of the iridocorneal (drainage) angle. However, in only one of these was the deformity severe enough to requi

Clinical features, pathophysiological mechanisms, and multidisciplinary management strategies for rhinitis-induced adenoid facies in children and adolescents: a review.

Chronic rhinitis and its associated persistent nasal obstruction and mouth breathing are core factors leading to the development of characteristic "rhinitis face" or "adenoid facies" in children and adolescents. This review elucidates the diverse clinical manifestations of "rhinitis face," including: persistent open-mouth posture; abnormal patterns of facial skeletal growth, such as midface hypoplasia and increased lower anterior facial height resulting in "long face syndrome"; alterations in jaw morphology and position, including maxillary constriction, high-arched palate, and mandibular retr

Case Report: Novel compound heterozygous mutations in PNPLA6 gene associated with Oliver-McFarlane syndrome.

BACKGROUND: Oliver-McFarlane syndrome (OMCS) is an extremely rare congenital disorder that presents with hypogonadotropic hypogonadism, long eyelashes and eyebrows, pigmentary retinopathy, peripheral nerve axon neuropathy and other associated features. It is currently known that OMCS is linked to variants in the patatin-like phospholipase domain containing 6 (PNPLA6) gene, but the specific pathogenic mechanism is still unclear. METHODS: We performed Whole exome sequencing (WES) on the proband and his parents, followed by validation of the findings through Sanger sequencing and Reverse Transcr…

An Emerging Ophthalmology Challenge: A Narrative Review of TikTok Trends Impacting Eye Health Among Children and Adolescents.

In today's digital age, children and teenagers are deeply entrenched in the world of personal electronic devices including laptops, tablets, … e," "mucus fishing challenge," "eggsplosions", "beezin challenge", "Orbeez challenge", "blow-drying eyelashes", "sun gazing," and "popping styes". The manuscript emphasizes the importance of monitoring and regulating potentially dangerous content on social media platforms like TikTok. While these platforms offer educational opportunities, they can also prom …

Современный подход к диагностике диабетической ретинопатии

В этой статье рассматриваются инновационные методы диагностики диабетической ретинопатии, поскольку распространение сахарного диабета и его осложнений продолжает расти. Новые методы сосредоточены на раннем обнаружении заболеваний. Технологические новшества, такие как телеофтальмология, смартфонная фотография, искусственный интеллект с глубоким обучением или широкополосная фотография, могут повысить диагностическую точность и ускорить лечение. В ходе обзора в качестве перспективных решений для дистанционного офтальмологического обслуживания рассматриваются телеоптальмология и ручная фотография.

Совпадение в аннотации оригинала
This article reviews innovative diagnostic approaches for diabetic retinopathy as the prevalence of diabetes mellitus and its complications … with compromised mydriasis. However, they also have drawbacks, including high costs, artifacts from eyelashes, eyelid margins, and peripheral distortion. Recent advances in artificial intelligence and machine learning, particularly through convolutional neural networks, are revolutionizing diabetic retinopathy diagnostics, enhancing screening efficiency and …

Clinical profile and management of ocular superglue injuries: Case series and review of literature.

PURPOSE: To describe the clinical profile and management of patients with ocular superglue injury (OSI). METHODS: This retrospective study … tation was conjunctival congestion in 77% of eyes (51/66) followed by polymerized glue stuck to the eyelashes and eyelids in 52% of eyes (34/66). The median duration from the time of injury to presentation was 2 hours in both groups. All eyes resolved with medical management. Examination under anesthesia was required in three children (13%) to evaluate the …

A study on genotypes and phenotypes of short stature caused by epigenetic modification gene variants.

Mendelian disorders of the epigenetic machinery (MDEMs) are caused by genetic mutations, a considerable fraction of which are associated wit … ity (31/33; 93.9%), small hands (14/33; 42.4%), clinodactyly of the 5th finger (14/33; 42.4%), long eyelashes (13/33; 39.4%), and hearing impairment (9/33; 27.3%). Additionally, several associated phenotypes are reported for the first time: clubbing with KMT2A variant, webbed neck with SETD5 variant, retinal detachment with CREBBP variant, sparse lateral ey …

Efficacy and safety of topical azithromycin therapy in patients with blepharitis and meibomian gland dysfunction.

PURPOSE: To assess the effects of 1% azithromycin ophthalmic solution (AZM) in patients with bacterial blepharitis accompanied by meibomian gland dysfunction (MGD). STUDY DESIGN: A multicenter, single arm, prospective interventional study. METHODS: AZM was administered to the affected eyes twice daily for the first 2 days and once daily for the subsequent 12 days. Lid margin hyperaemia/redness, collarette at the root of the eyelashes, conjunctival hyperaemia, foreign body sensation, and epiphora were assessed on Days 1, 14, and 28. The Dry Eye-related Quality of Life Score (DEQS) and objecti…

The Prevalence of Trachomatous Trichiasis in People Aged 15 Years and Over in Six Evaluation Units of Gaoual, Labé, Dalaba and Beyla Districts, Guinea.

PURPOSE: Trachoma is a public health problem in 42 countries. Inflammation associated with repeated ocular infection with Chlamydia trachomatis can cause the eyelid to scar and turn inwards, resulting in the eyelashes rubbing against the eyeball, known as trachomatous trichiasis (TT). In Guinea, baseline surveys conducted in 2013 reported inflammatory trachoma prevalences below the World Health Organization (WHO) threshold for elimination, but TT prevalences above threshold. Given this epidemiological context and time since baseline survey, TT-only surveys were conducted in selected districts …

PARK2 microdeletion in a multiplex family with autism spectrum disorder.

BACKGROUND: PARK2 (PRKN; MIM*602544) encodes Parkin protein, an ubiquitin-protein ligase required for proteasomal degradation and operating … ic facial features with coarse faces, deeply set eyes with long horizontal palpebral fissures, long eyelashes and thick eyebrows, fleshy lips and mild skeletal problems. We found an intrafamilial clinical heterogeneity owing to different severity of the autism symptoms between the affected sibs: the younger one had minimally verbal autism and severe intelle …

Novel KDM6A Kabuki Syndrome Mutation With Hyperinsulinemic Hypoglycemia and Pulmonary Hypertension Requiring ECMO.

Kabuki syndrome (KS) is a multisystem disorder estimated to occur in 1:32 000 newborns. Pathogenic mutations cause the majority but not all … rtic arch requiring aortic arch repair. She has characteristic facial features, including prominent eyelashes, long palpebral fissures, and a short nasal columella. Next-generation sequencing for HH revealed a de novo likely pathogenic missense variant in KDM6A gene: c.3479G > T, p.Gly1160Val that was absent from population databases. Genetic testing for ca …

Development of the Alopecia Areata Patient Priority Outcomes Instrument: A Qualitative Study.

INTRODUCTION: Although alopecia areata (AA) profoundly impacts patients' physical appearance, emotional state, and daily activities, no trea … ents with AA. Patients emphasized the need to differentiate hair loss by location: scalp, eyebrows, eyelashes, and body. Consequences of AA include difficulty conducting daily activities, particularly outdoor activities and exercise, and emotional impacts such as sadness, frustration, and negative self-image. Following cognitive debriefing interviews, 11 it …

A Chinese Case of Cornelia de Lange Syndrome Caused by a Pathogenic Variant in SMC3 and a Literature Review.

PURPOSE: Cornelia de Lange syndrome (CdLS) is a rare congenital developmental disorder, and cases caused by variants in SMC3 are infrequent. … erbal development delay and intellectual disability to different degrees, and 90% patients had long eyelashes while 89% patients had arched eyebrows. CONCLUSION: This study summarized different gene variants in SMC3 and the frequencies of the various clinical manifestations according to the reported literature. For CdLS caused by SMC3 variants, short statu …

Clinical and molecular spectrum of CHOPS syndrome.

CHOPS syndrome is a multisystem disorder caused by missense mutations in AFF4. Previously, we reported three individuals whose primary pheno … cent of Cornelia de Lange syndrome such as synophrys, upturned nasal tip, arched eyebrows, and long eyelashes. All 11 individuals had short stature and obesity. Congenital heart disease and pulmonary involvement were common, and those were seen in about 70% of individuals with CHOPS syndrome. Skeletal abnormalities are also common, and those include abnorma …