Isquemia retiniana y proliferación fibrovascular tardía asociada a coloboma de nervio óptico / Retinal ischaemia and delayed fibrovascular proliferation associated with an optic nerve coloboma

CASO CLÍNICO: Paciente con coloboma de nervio óptico izquierdo, que desarrolla tardíamente (a los 15 años de edad) proliferación fibrovascular vitreorretiniana y desprendimiento de retina traccional (DRT). Se realiza fotocoagulación retiniana sectorial con regresión del tejido proliferativo y la exudación asociada. DISCUSIÓN: Las anomalías congénitas del nervio óptico pueden asociar avascularidad e isquemia retiniana significativa y proliferación fibrovascular de aparición tardía. El tratamiento láser es efectivo para obtener la regresión del tejido neovascular y prevenir la progresión del DRT

CASE REPORT: A patient with a left optic nerve coloboma with late development (at 15 years of age) of vitreoretinal fibrovascular proliferation and tractional retinal detachment (TRD). Sectorial retinal photocoagulation was performed with regression of the proliferative tissue and exudation. DISCUSSION: Congenital optic nerve anomalies may be associated with significant retinal avascularity, ischaemia and late fibrovascular proliferation. Laser is effective for regression of the neovascular tissue and preventing TRD progression

Fat-soluble vitamin deficiency in pregnancy: a case report and review of abetalipoproteinemia.

BACKGROUND: Abetalipoproteinemia (ABL) is a metabolic disorder resulting in poor absorption of fat-soluble vitamins. CASE: Two pregnancies in a woman with ABL are reported, contrasting outcomes with subtherapeutic and normal vitamin levels. CONCLUSION: Fat-soluble vitamin levels in pregnancy are critical for many aspects of fetal development. This report details a congenital ophthalmologic finding that may be associated with vitamin A deficiency.

Rescue of defective branching nephrogenesis in renal-coloboma syndrome by the caspase inhibitor, Z-VAD-fmk.

In renal-coloboma syndrome (RCS), null mutations of the PAX2 gene cause renal hypoplasia due to a congenital deficit of nephrons; affected individuals may develop renal insufficiency in childhood. During normal kidney development, PAX2, is expressed at high levels throughout the arborizing ureteric bud (UB); recent observations suggest that one of its key roles is to suppress apoptosis in this collecting duct lineage. The authors hypothesized that increased UB cell apoptosis due to PAX2 haploinsufficiency must directly influence the rate of branching morphogenesis in developing kidney and the number of nephrons that can be formed before birth, when nephrogenesis in humans comes to an end. If so, the authors reasoned that caspase inhibitors might be used to suppress unwanted UB cell apoptosis during kidney development in Pax2(1Neu) mutant mice and rescue the genetic UB branching defect. E17.5 kidneys from Pax2(1Neu) mutant mice had smaller (-25%) longitudinal cross-sectional area and 3.5-fold increase in collecting duct cell apoptosis versus wild-type littermates; mutant E13.5 kidney explants allowed to arborize for 50 h in vitro had 18% fewer terminal branches than wild-types. However, exposure to the caspase inhibitor, Z-VAD-fmk (25 micro M), significantly increased terminal branch number in mutant explants (23%). It also increased branching in wild-type explants, apparently reflecting an effect of Z-VAD-fmk on basal apoptosis induced by ex vivo culture conditions. Similarly, when pregnant mice were injected daily with Z-VAD-fmk (10 micro g/g weight from E10.5 to E17.5), apoptosis of Pax2(1Neu) fetal collecting duct cells was suppressed to 40% of untreated mutants; by E14, terminal branch number was increased to 152% that of untreated litters. These studies support the hypothesis that PAX2 normally optimizes the rate of branching morphogenesis in fetal kidney by suppressing UB apoptosis. Furthermore, it suggests that caspase inhibitors can rescue the branching defect caused by PAX2 mutations.