A New Variant in the PRPF6 Gene Leading to Retinitis Pigmentosa: A Case Report.

We report on a case of a 34-year-old Hispanic female patient with a medical history of diabetes mellitus, thyroid disease, and cataract surgery in the right eye, who was evaluated due to progressive vision loss in both eyes. The patient had waxy pallor of the optic disc, vessel attenuation, retinal pigment epithelium (RPE) degeneration, and bony spicules OU. These findings are compatible with a diagnosis of retinitis pigmentosa (RP). Gene sequencing and deletion/duplication analysis were performed. The patient was positive for a heterozygous mutation in the PRPF6 gene with the variant c.2228C>T (p.Thr743Ile). This PRPF6 variant was reported as a variant of unknown significance. The Combined Annotation Dependent Depletion (CADD) score of this PRPF6 variant is 23.5, which strengthens the idea that it could potentially be associated with RP. To our knowledge, this is the first case reported on an RP patient with the PRPF6 variant c.2228C>T (p.Thr743Ile). Our case suggests that this PRPF6 variant may be associated with bilateral RP. Further molecular studies are warranted to better understand the molecular changes in the PRPF6 gene leading to RP.

Bilateral Acute Iris Transillumination Syndrome Following Oral Moxifloxacin Overdose.

We report a case of bilateral acute iris transillumination (BAIT) syndrome caused by an overdose of oral moxifloxacin in a Hispanic female patient with no previous respiratory viral infection. A 56-year-old Hispanic female with no history of ocular illness was referred to our glaucoma service to manage her microcystic edema, swelling, and refractory ocular hypertension. Her ocular and systemic symptoms, including progressively worsening bilateral ocular pain, severe photophobia, blurred vision, nausea, and vomiting, started 14 days after an accidental overdose of oral moxifloxacin. Moxifloxacin had been prescribed to treat a complicated urinary tract infection. A slit-lamp examination revealed bilateral microcystic corneal edema and transillumination in the right temporal iris, both consistent with a diagnosis of BAIT syndrome. The existing literature on BAIT syndrome is scarce, and its etiology remains unclear. This case provides clinical evidence supporting moxifloxacin toxicity as a possible cause of BAIT syndrome. We emphasize the importance of conducting extensive research to define the mechanisms involved in moxifloxacin-induced BAIT syndrome and to search for other potential etiologies of this condition.

E2F3 drives the epithelial-to-mesenchymal transition, cell invasion, and metastasis in breast cancer.

E2F3 is a transcription factor that may initiate tumorigenesis if overexpressed. Previously, we demonstrated that E2F3 mRNA is overexpressed in breast cancer and that E2F3 overexpression results in centrosome amplification and unregulated mitosis, which can promote aneuploidy and chromosome instability to initiate and sustain tumors. Further, we demonstrated that E2F3 leads to overexpression of the mitotic regulator Shugoshin-1, which until recently had unknown roles in cancer. This study aims to evaluate the roles of E2F3 and Shugoshin-1 in breast cancer metastatic potential. Here we demonstrated that E2F3 and Shugoshin-1 silencing leads to reduced cell invasion and migration in two mesenchymal triple-negative breast cancer (TNBC) cell lines (MDA-MB-231 and Hs578t). Moreover, E2F3 and Shugoshin-1 modulate the expression of epithelial-to-mesenchymal transition-associated genes such as Snail, E-Cadherin, and multiple matrix metalloproteinases. Furthermore, E2F3 depletion leads to reductions in tumor growth and metastasis in NOD-scid Gamma mice. Results from this study suggest a key role for E2F3 and a novel role for Shugoshin-1 in metastatic progression. These results can further help in the improvement of TNBC targeted therapies by interfering with pathways that intersect with the E2F3 and Shugoshin-1 signaling pathways.