Acute cerebral venous sinus thrombosis (CVT) presenting with papilledema and complete vision loss

The evaluation of optic disc edema can be a diagnostic challenge. It is important to perform thorough work-up to rule-out vascular, infectious, inflammatory, toxic, metabolic, and compressive causes. Papilledema is present in only approximately 28% of patients with CVT. Papilledema commonly causes transient visual impairment, but if left untreated, can lead to permanent loss due to optic atrophy. Severe vision loss in the setting of acute CVT is rare and reported in only 2%-4% of cases

Case series: Pyramidal cataracts, intact irides and nystagmus from three novel PAX6 mutations

Purpose: To investigate the association between novel PAX6 mutations to bilateral anterior pyramidal congenital cataracts (APyC), complete and intact irides, and nystagmus. Observations: This is a retrospective observational case series in a multi-center setting with genetic testing. Three female patients were diagnosed with bilateral APyC, intact irides and nystagmus. Genetic testing identified the three patients had novel missense mutations in PAX6 – c.128C > T; p.Ser43Phe (S43F), c. 197T > A; p.Ile66Asn (I66N) and c.781C > G; p.Arg261Gly (R261G). Conclusions and importance: This study demonstrates a novel phenotype of bilateral APyC, intact irides, and nystagmus in whom genetic testing for PAX6 identified novel missense mutations (S43F, I66N, R261G) in highly conserved DNA-binding domains. Implications of understanding why the iris is present in these cases is discussed. Keywords: Pyramidal cataracts, Intact irides, Nystagmus, Novel PAX6 missense mutation