Publications by authors named "K M Joos"

We present the case of a patient with a history of laser-treated retinopathy of prematurity (ROP) who developed narrow angles and intermittent angle closure. Despite laser peripheral iridotomy/iridoplasty, 1 year later, the patient had recurrent narrowing that resolved following clear lens extraction with intraocular lens placement. This case highlights the importance of continued monitoring for narrow angles in patients with ROP history.

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Handheld optical coherence tomography (HH-OCT) is gaining popularity for diagnosing retinal diseases in neonates (e.g. retinopathy of prematurity).

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Primary open-angle glaucoma (POAG), a leading cause of irreversible blindness globally, shows disparity in prevalence and manifestations across ancestries. We perform meta-analysis across 15 biobanks (of the Global Biobank Meta-analysis Initiative) (n = 1,487,441: cases = 26,848) and merge with previous multi-ancestry studies, with the combined dataset representing the largest and most diverse POAG study to date (n = 1,478,037: cases = 46,325) and identify 17 novel significant loci, 5 of which were ancestry specific. Gene-enrichment and transcriptome-wide association analyses implicate vascular and cancer genes, a fifth of which are primary ciliary related.

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Article Synopsis
  • - A 26-year-old woman diagnosed with Diamond-Blackfan anemia (DBA) was referred to the Undiagnosed Diseases Network due to the lack of a specific genetic cause found for her condition.
  • - Her case was uniquely identified as being influenced by digenic interactions, specifically involving variations in two different genes (RPS19 and RPL27), rather than the typical single-gene mutations usually associated with DBA.
  • - The findings were supported by advanced techniques including machine learning models, co-segregation analysis, and RNA sequencing, highlighting that atypical presentations of DBA may arise from multiple gene interactions and not just single-gene effects.
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