Retinal disease in the C3 glomerulopathies and the risk of impaired vision

Background: Dense deposit disease and atypical hemolytic uremic syndrome are often caused by Complement Factor H (CFH) mutations. This study describes the retinal abnormalities in dense deposit disease and, for the first time, atypical haemolytic uremic syndrome. It also reviews our understanding of drusen pathogenesis and their relevance for glomerular disease. Methods: Six individuals with dense deposit disease and one with atypical haemolytic uremic syndrome were studied from 2 to 40 years after presentation. Five had renal transplants. All four who had genetic testing had CFH mutations. Individuals underwent ophthalmological review and retinal photography, and in some cases, optical coherence tomography, and further tests of retinal function. Results: All subjects with dense deposit disease had impaired night vision and retinal drusen or whitish-yellow deposits. Retinal atrophy, pigmentation, and hemorrhage were common. In late disease, peripheral vision was restricted, central vision was distorted, and there were scotoma from sub-retinal choroidal neovascular membranes and atypical serous retinopathy. Drusen were present but less prominent in the young person with atypical uremic syndrome due to a heterozygous CFH mutation. Conclusions: Drusen are common in forms of C3 glomerulopathy caused by compound heterozygous or heterozygous CFH mutations. They are useful diagnostically but also impair vision. Drusen have an identical composition to glomerular deposits. They are also identical to the drusen of age-related macular degeneration, and may respond to the same treatments. Individuals with a C3 glomerulopathy should be assessed ophthalmologically at diagnosis, and monitored regularly for vision-threatening complications.     

Attention,Externalizing, and Internalizing Problems of Youth Exposed to Parental Incarceration

Few studies have examined the effects of parental incarceration (PI) on outcomes above and beyond other risk and adverse childhood experiences (ACEs). The objectives of this study were to (1) the associations between PI and mental health problems (attention, externalizing, internalizing, and total behavioral problems) and (2) the mediating role of current socioeconomic status and cumulative ACEs. An observational and cross-sectional design was employed. Analyses included hierarchical multivariable linear regression modeling. The analytic sample included 613 adolescents (11–17?years). On average, youth exposed to PI experienced three times as many ACEs compared with youth unexposed. Youth exposed to PI were more likely to have behavioral problems than their unexposed peers. The main effect for all models was attenuated by current economic hardship as well as exposure to increasing numbers of ACEs. Exposure to PI can be viewed as a marker of accumulative risk for intervention since youth impacted by PI are more likely to experience behavioral difficulties and associated adverse childhood experiences. Due to the associated adversity that impact youth exposed to PI, mental health providers need to be able to identify and screen for symptoms associated with trauma.