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Item Chronic recurrent multifocal osteomyelitis, central retinal artery occlusion and optic neuropathy: A new association(Elsevier, 2021-09-21) Vaphiades, Michael S.; Lai, Kevin E.; Kline, Lanning B.; Grondines, Brendan; Riser, Emily; Ophthalmology, School of MedicinePurpose: To report a patient with chronic recurrent multifocal osteomyelitis (CRMO) complicated by optic neuropathy and central retinal artery occlusion (CRAO). Observations: CRMO is a noninfectious, inflammatory bone disorder. It is thought to be an autoimmune condition related to an imbalance of pro- and anti-inflammatory cytokines. Retinal vasculitis has been reported in a patient with CRMO but not CRAO or optic neuropathy. Conclusions: We expanded the list of ophthalmic involvement of CRMO to include CRAO and optic neuropathy.Item Drug Discovery Strategies for Inherited Retinal Degenerations(MDPI, 2022-09-10) Das, Arupratan; Imanishi, Yoshikazu; Ophthalmology, School of MedicineInherited retinal degeneration is a group of blinding disorders afflicting more than 1 in 4000 worldwide. These disorders frequently cause the death of photoreceptor cells or retinal ganglion cells. In a subset of these disorders, photoreceptor cell death is a secondary consequence of retinal pigment epithelial cell dysfunction or degeneration. This manuscript reviews current efforts in identifying targets and developing small molecule-based therapies for these devastating neuronal degenerations, for which no cures exist. Photoreceptors and retinal ganglion cells are metabolically demanding owing to their unique structures and functional properties. Modulations of metabolic pathways, which are disrupted in most inherited retinal degenerations, serve as promising therapeutic strategies. In monogenic disorders, great insights were previously obtained regarding targets associated with the defective pathways, including phototransduction, visual cycle, and mitophagy. In addition to these target-based drug discoveries, we will discuss how phenotypic screening can be harnessed to discover beneficial molecules without prior knowledge of their mechanisms of action. Because of major anatomical and biological differences, it has frequently been challenging to model human inherited retinal degeneration conditions using small animals such as rodents. Recent advances in stem cell-based techniques are opening new avenues to obtain pure populations of human retinal ganglion cells and retinal organoids with photoreceptor cells. We will discuss concurrent ideas of utilizing stem-cell-based disease models for drug discovery and preclinical development.