Closing the gap in kidney disease: validating the reporting of Aboriginal and/or Torres Strait Islander identification in a clinical quality registry using linked data.

Objective: To examine the accuracy of the Australia and New Zealand Dialysis and Transplant Registry (ANZDATA), the population-based clinical quality registry for people with kidney failure, in identifying Aboriginal and/or Torres Strait Islander people.

Design: Population-based cohort study of reporting accuracy.

Setting: New South Wales, 2006-2020.

Best Vitelliform Macular Dystrophy Natural History Study Report 2: Fundus Autofluorescence and Optical Coherence Tomography.

Purpose: To analyze the retinal imaging findings and natural history of Best vitelliform macular dystrophy (BVMD).

Design: Single-center retrospective, consecutive, observational study.

Participants: Patients with a clinical diagnosis of BVMD, from pedigrees with a likely disease-causing monoallelic variant in BEST1.

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.

Inherited retinal diseases (IRDs) are a genetically heterogeneous group of Mendelian disorders that often lead to progressive vision loss and involve approximately 300 distinct genes. Although variants in these loci account for the majority of molecular diagnoses, other genes associated with IRD await molecular identification. In this study, we uncover bi-allelic assortments of 23 different (22 loss-of-function) variants in AP5Z1, AP5M1, and AP5B1 as independent causes of recessive IRD in members of 19 families from nine countries.

Biallelic null variants in C19orf44 cause a unique late onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy.

Purpose: To identify the genetic cause for disease in individuals affected with inherited retinal disease (IRD), to characterize their retinal phenotype and the properties of the underlying gene.

Methods: Participants underwent a comprehensive ophthalmological evaluation, including best-corrected visual acuity, visual field testing, fundus autofluorescence, optical coherence tomography and electroretinography. Genetic analyses included exome, genome and Sanger sequencing.

Values, Preferences, and Risk Tolerance of People Waitlisted for a Kidney Transplant Regarding Potential Deceased Donor Organ Profiles: A Systematic Review.

Background: Incorporating the views of people waitlisted for a kidney transplant is important when clinicians consider any donor kidney offer.

Methods: We conducted a systematic review of quantitative and qualitative studies in adult patients on, or under assessment for, the kidney waitlist. We focused on views of extended criteria, increased viral (blood-borne virus), or increased cancer risk in deceased donor kidneys.