Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.

In a case report, this study identified a new genetic variant in a six-year-old girl from Saudi Arabia with hypotrichosis and juvenile macular dystrophy, expanding the understanding of the genetic spectrum of this rare condition in the region.

This case report describes a 7-year-old girl whose allergic conjunctivitis went underdiagnosed and undertreated, resulting in poor prognosis due to the challenges associated with her young age and inability to verbally communicate symptoms.

This case study describes a 9-year-old boy with monilethrix and associated abnormalities, suggesting a new, severe autosomal recessive variant termed "monilethrix syndrome.

This article discusses ciliary madarosis as a transient condition secondary to IAC, emphasizing the value of physical and trichoscopic evaluations for diagnosis and prognosis; it does not report new clinical results.

This case report from Nepal describes a five-year-old boy with Hutchinson Gilford Progeria Syndrome experiencing ocular manifestations, highlighting the role of ocular senescence in this genetic disorder.

This guide provides a comprehensive approach to diagnosing periocular hair disorders, which can range from benign conditions to those posing serious health risks.

This case report highlights a family member with a confirmed diagnosis of hypotrichosis with juvenile macular dystrophy due to a CDH3 gene mutation, emphasizing the importance of genetic testing for accurate counseling.

This case report identifies a novel nonsense mutation in the CDH3 gene associated with hypotrichosis and juvenile macular dystrophy.

In this case report, a 36-year-old woman with GAPO syndrome underwent successful XEN gelatin micro-stent implantation in both eyes to control primary open-angle glaucoma that was unresponsive to medical treatment, marking the first documented use of this minimally invasive glaucoma surgery in such a patient.

This case report on a 17-year-old with Vogt-Koyanagi-Harada syndrome found that while steroid treatments improved vision during uveitis episodes, recurring ocular issues led to significant long-term visual impairment.

In this study, scalp biopsies from HJMD patients revealed histological similarities to chronic telogen effluvium and highlighted the role of CDH3 mutations disrupting normal hair cycles.

In this study, researchers observed that while there were no significant microvascular abnormalities in the macula of PCOS patients, the parafoveal thickness was significantly increased in most quadrants.

In this study, adult albino rats on a vitamin A deficient diet developed ocular symptoms like xerophthalmia and photophobia within four weeks, without showing loss of dark adaptation.

This study presents a case of a 6-month-old infant girl with hypotrichosis and an alopecic plaque in the occipital region, characterized by broken and dystrophic hairs with follicular papules and perifollicular hyperkeratosis, suggesting a diagnostic consideration.

This abstract contains no research results; it's a website navigation menu and institutional policy information from JAMA Ophthalmology.

This case report presents a 28-year-old woman with alopecia universalis and macular dystrophy, highlighting a potential new linkage between these conditions without previously identified associated genes.

This case report describes a rare occurrence of ectodermal dysplasia features in a 14-year-old with MBTPS1 gene variants, expanding the known spectrum of related disorders.

This research reports that partial orthokeratology combined with daytime spectacle correction effectively slowed myopic progression in high myopes, with a 63% reduction in axial elongation compared to spectacle use alone.

This article discusses the potential of intralesional cidofovir for treating SCC without systemic toxicity, noting that surgical excision remains the best treatment option; it reports no new clinical results.

In this study, intravital microscopy in live mice showed that apoptosis in hair follicle regression may be driven by apoptotic cells inducing neighboring cell death, with stem cells likely providing a pro-survival signal.

In this case report, a 4-year-old with neurofibromatosis type 1 experienced significant reduction in an inoperable periorbital plexiform neurofibroma and visual improvement following treatment with selumetinib.

This report discusses the various causes and clinical assessment of madarosis, emphasizing the importance of recognizing and diagnosing associated vision or life-threatening conditions, without presenting new findings.

This case report suggests that madarosis, or eyelash loss, may be associated with mitochondriopathy, expanding the known causes of madarosis to include this condition.

This report discusses the use of intralesional cidofovir and suggests it might be a viable option for treating SCC due to its successful outcome without observed systemic toxicity in this case.

This case report describes a five-year-old boy diagnosed with nevus comedonicus syndrome, a rare skin condition, characterized by asymptomatic skin lesions and a congenital cataract of the right eye, without inflammation or typical signs of related conditions.

This case report identified lash ptosis as a potential complication of latanoprost therapy in a 61-year-old man with ocular hypertension.

This study is the first to identify a de novo heterozygous frameshift insertion variant in the ARID1B gene as a cause of Coffin-Siris syndrome with an association to excessive early-onset high myopia.

This study found that patients with the MITF p.E318K variant are more likely to develop multiple primary melanomas and dysplastic nevi with uncommon dermoscopic patterns compared to non-carriers.