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This case report of an infant with AEC syndrome highlights the importance of early and aggressive management of ocular complications to preserve vision and reduce the risk of amblyopia.

This study found that the loss of Msx2 in knockout mice led to phenotypes similar to Peters anomaly and microphthalmia, suggesting that MSX2 plays a critical role in anterior segment development of the eye.

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, researchers identified and characterized three specific enzymes in root hair cells that play crucial roles in controlling root hair growth by affecting cell wall properties during expansion.

In this study, more than 25% of children experienced axial length shortening greater than 0.05 mm/year following repeated low-level red-light therapy.

In this study, the researchers found that optic atrophy 1 (OPA1) is involved in the transition between filamentous and rounded mitochondria in hair follicle dermal papilla cells, potentially influencing cellular energy dynamics.

This study describes a family with loose anagen hair syndrome associated with macular dystrophy, suggesting this combination may represent a new disease entity among ectodermal dysplasias.

Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.

This case report details a 21-year-old woman with dermatopathia pigmentosa reticularis, presenting with generalized reticulate hyperpigmentation, diffuse noncicatricial alopecia, onychodystrophy, palmoplantar keratoderma, and poorly developed dermatoglyphics.

This case report describes a patient with a rare combination of imperfect osteogenesis and Escobar syndrome, highlighting the genetic complexity and clinical manifestations of these conditions.

This study suggests that the ANE syndrome mutation in yeast Nop4, analogous to human RBM28, disrupts protein folding and protein-protein interactions, contributing to ribosomal dysfunction.

This study found that the ocular surface epithelium in mice contains distinct stem cell populations with unique cell division dynamics that change behaviorally in response to different levels of injury.

This review discusses the role of corneodesmosin in skin and hair follicle integrity, with mentions of its link to hypotrichosis simplex and peeling skin disease, and reports no new results.

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.

In this study, mutations in the CDH3 gene were identified as the cause of hypotrichosis with juvenile macular dystrophy, and the researchers observed substantial phenotypic variability among affected individuals.

This case report details the ocular complications of Hutchinson-Gilford Progeria syndrome in a 20-year-old Bangladeshi patient, highlighting symptoms like dry eyes, Meibomian gland dysfunction, and cataracts.

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

This case report describes a Thai male with TRPS1 who exhibited unique and unreported features such as hypoplastic mandibular condyles, double mental foramina, and distinctive hair abnormalities.

This article reviews the clinical features of dermatopathia pigmentosa reticularis, highlighting its characteristic triad of symptoms, but provides no new research results.

In this case report, researchers describe a 22-year-old male with a unique presentation of Senior-Løken Syndrome due to a NPHP4 mutation, exhibiting atypical symptoms like cryptorchidism, alopecia, and potential syndromic overlap with Rothmund-Thomson Syndrome, suggesting complex genetic interactions and expanding the phenotypic spectrum of ciliopathies.

This review discusses the role of organoids and organ chips in advancing ophthalmological research and therapeutic evaluation, but it reports no new clinical findings.

This article presents a case of a seventeen-year-old female with dermatopathia pigmentosa reticularis and emphasizes the importance of distinguishing its clinical features from other similar disorders, supported by dermoscopic and histopathological findings.

This study found that the L457(3.43)R mutation in the human luteinizing hormone receptor increases phosphodiesterase activity, reducing hormonal response despite elevated basal cAMP levels.

This study reported that distinct stem/progenitor populations in the ocular surface epithelium have different cell division frequencies and respond differently to injury, with specific spatial compartmentalization and migration behaviors.

This study indicates that central serous chorioretinopathy linked to topical minoxidil use is rare, suggesting the need for early detection and discontinuation if it occurs.

This report presents a case of a seven-year-old girl with porokeratotic adnexal ostial nevus manifesting as hyperkeratotic verrucous papules on her left foot.

This review discusses the genetic disorder, monilethrix, characterized by fragile, brittle hair and its inheritance patterns, and reports no new clinical results.

This article reviews various congenital and acquired hair shaft disorders, examining their characteristics and potential links to wider health conditions, but does not present any new clinical results.

This review discusses the causes and clinical presentations of ptosis in childhood and reports on several observed cases, but provides no new clinical results.