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Oculoplastic Operative Considerations for Kabuki Syndrome: A Case Report and Review of the Literature.
Ophthalmic Plast Reconstr Surg
December 2024
Department of Ophthalmology, Bascom Palmer Eye Institute, Miami, Florida, U.S.A.
Kabuki syndrome is a rare genetic disease with multisystemic effects including ocular manifestations. The authors report a patient with known Kabuki syndrome who presented with bilateral euryblepharon, bilateral ptosis, OD hypotropia, and blue sclera. A bilateral lateral tarsal strip procedure was performed followed by a left frontalis sling with a silicone implant and a right external levator advancement with success.
View Article and Find Full Text PDFOsteogenesis imperfecta in Peruvian children: Phenotypic and therapeutic insights from a pediatric hospital.
Intractable Rare Dis Res
November 2024
Carrera Profesional de Medicina Humana, Universidad Científica del Sur, Lima, Perú.
Article Synopsis
- Osteogenesis imperfecta (OI) is a genetic connective tissue disorder leading to fragile bones, with a global occurrence of 1 in 10,000; diagnosis relies on clinical and radiological assessments.
- A study examined 91 pediatric OI patients at a national institute, revealing that most had fractures and specific physical traits like blue sclera and bowed legs; treatment typically involved bisphosphonates.
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Generalized type II minocycline-induced pigmentation: A case report.
SAGE Open Med Case Rep
November 2024
Department of Dermatology, Xiang'an Hospital of Xiamen University, School of Medicine, Xiamen University, Xiamen, P.R. China.
Minocycline-induced pigmentation is a rare dermatological condition that primarily affects the skin and thyroid gland, oral mucosa, nails, teeth, bones, and sclera leading to grayish-blue pigmentation in these areas. Early identification, discontinuation of the drug, and laser treatment are crucial in managing this condition. We reported a case involving a 72-year-old Chinese woman who developed diffuse blue-brown pigmentation after 1 year of minocycline treatment for pemphigus vulgaris.
View Article and Find Full Text PDFMonochromatic light effects on refractive error, cone cell density and retinoic acid signaling in dorsal and ventral retina in guinea pigs.
Exp Eye Res
December 2024
Department of Ophthalmology, Zhongshan Hospital of Fudan University, Shanghai, 310000, China. Electronic address:
Article Synopsis
- This study found that cone cells in the retina influence how light exposure affects refractive states, focusing on guinea pigs under different light colors (blue, green, and white).
- Blue light exposure resulted in a slower transition from hyperopia (farsightedness) to emmetropia (normal vision) in areas with higher S-cone density, while green light exposure led to myopic (nearsightedness) shifts linked to M-cone density in different eye regions.
- Retinal acid (RA) and retinoic acid receptor-β (RAR-β) levels varied with light exposure, with blue light decreasing both, while green light increased them, suggesting that these factors may play distinct roles in refr
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