September 2024 in “Egyptian Journal of Medical Human Genetics” This case report adds to the understanding of neurofibromatosis type 1 by documenting an Egyptian child with the condition alongside multiple unusual congenital anomalies, highlighting the importance of considering NF1 when these features are present.
January 2025 in “Journal of College of Physicians And Surgeons Pakistan” 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.
2 citations
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July 2024 in “Cermin Dunia Kedokteran” This article discusses various treatment options for open-angle glaucoma, which include surgical and medical approaches, emphasizing the need for combining drugs with different mechanisms to manage intraocular pressure and prevent vision field narrowing.
260 citations
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July 2010 in “Cell” This study identifies mutations in the SRD5A3 gene as a cause of a new type of congenital disorder of glycosylation, impacting mental, ophthalmologic, and cerebellar functions.
24 citations
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May 2012 in “International Journal of Dermatology” This review discusses the various causes and associations of eyelash trichomegaly, including congenital syndromes, acquired conditions, and drug effects, without reporting new clinical results.