4 research outputs found
Florida’s Most Recent Anti-transgender Political Policies and Their Effects on Transgender Adults
During May of 2023, Florida Governor Ron DeSantis signed multiple bills into law, which included House Bill 1521, Senate Bill 1580, and Senate Bill 254. Critics have regarded these bills to directly discriminate against transgender individuals and negatively impact their quality of life. The main research question this project seeks to answer is what impact these bills have, if any, on transgender individuals who live in the state of Florida. This includes experiences that negatively impact quality of life outcomes and mental health disparities. An online survey of a small sample of the population that self identifies as transgender, that had lived in Florida for at least 1 month prior to and after the passing of the bills and were over 18 years old was used. Participants answered 2 sets of questions using a five-point Likert scale. One set asked about feelings and experiences prior to the passing of the bills, and the other after the passing of the bills, which included questions about mental health disparities seen commonly in transgender individuals such as depression, suicidal ideation and more. A comparison of the average Likert scale score prior to and after the passing of the bills showed a 10-20 percent increase in mental health disparities, and a large decrease in perceived ease of access to healthcare and satisfaction with state governmental support. Across the board, increases to negative mental health and quality of life outcomes were seen in our sample, which paints a troubling picture as to how these types of bills impact transgender quality of life and mental health outcomes
A clinical and molecular characterisation of CRB1-associated maculopathy
To date, over 150 disease-associated variants in CRB1 have been described, resulting in a range of retinal disease phenotypes including Leber congenital amaurosis and retinitis pigmentosa. Despite this, no genotype–phenotype correlations are currently recognised. We performed a retrospective review of electronic patient records to identify patients with macular dystrophy due to bi-allelic variants in CRB1. In total, seven unrelated individuals were identified. The median age at presentation was 21 years, with a median acuity of 0.55 decimalised Snellen units (IQR = 0.43). The follow-up period ranged from 0 to 19 years (median = 2.0 years), with a median final decimalised Snellen acuity of 0.65 (IQR = 0.70). Fundoscopy revealed only a subtly altered foveal reflex, which evolved into a bull’s-eye pattern of outer retinal atrophy. Optical coherence tomography identified structural changes—intraretinal cysts in the early stages of disease, and later outer retinal atrophy. Genetic testing revealed that one rare allele (c.498_506del, p.(Ile167_Gly169del)) was present in all patients, with one patient being homozygous for the variant and six being heterozygous. In trans with this, one variant recurred twice (p.(Cys896Ter)), while the four remaining alleles were each observed once (p.(Pro1381Thr), p.(Ser478ProfsTer24), p.(Cys195Phe) and p.(Arg764Cys)). These findings show that the rare CRB1 variant, c.498_506del, is strongly associated with localised retinal dysfunction. The clinical findings are much milder than those observed with bi-allelic, loss-of-function variants in CRB1, suggesting this in-frame deletion acts as a hypomorphic allele. This is the most prevalent disease-causing CRB1 variant identified in the non-Asian population to date