Early-Onset Myopia and Retinal Detachment without Typical Microcoria or Severe Proteinuria due to a Novel LAMB2 Variant.

PURPOSE: To describe the ocular and renal features, as well as outcomes of retinal detachment repair, in patients with a novel, homozygous laminin ß-2 (LAMB2) pathogenic variant. DESIGN: Single-center retrospective chart review of patients with a homozygous variant, c.619T>C p.(Ser207Pro), in the LAMB2 gene. SUBJECTS: Eleven patients (22 eyes) from 4 families. METHODS: Demographic data and ocular findings were recorded. Patients were recalled for a detailed renal evaluation. MAIN OUTCOME MEASURES: Ocular features, renal features, and outcomes of retinal detachment repair. RESULTS: The mean age at presentation was 6.0 (range, 1-26) years. None of the study eyes had microcoria, and none of the patients had nephrotic-range proteinuria. The mean refraction and axial length were -7.9 diopters (range, -4.0 to -12.0 diopters) and 25.3 (range, 22.7-27.7) mm, respectively. Eleven eyes (50%) had cataract at presentation. Fifteen eyes had a clear view to the fundus and all showed tessellated myopic fundus, avascular peripheral retina evident clinically or on fluorescein angiography, and rudimentary fovea. Optic disc pallor was observed in 10 eyes (66.7%). Straightened retinal vessels, abnormal vascular emanation (situs inversus) from the optic disc, supernumerary vascular branching at the optic disc, and vascular tortuosity were observed in 10 (66.7%), 2 (13.4%), 2 (13.4%), and 2 (13.4%) eyes, respectively. Discrete areas of punched-out chorioretinal atrophy were observed in 4 (26.7%) eyes. Spectral-domain OCT showed retinal and choroidal thinning in 13 eyes (86.7%), retinoschisis temporal to the fovea in 2 eyes (13.4%), and rudimentary fovea in 15 eyes (100%). Among the 22 eyes, 14 eyes (63.6%) developed rhegmatogenous retinal detachment (RRD), mostly during childhood, of which 5 patients had bilateral RRD. Eight eyes were operated on and 6 (75%) achieved retinal reattachment at the last follow-up. The mean preoperative visual acuity was 20/300 and the mean postoperative visual acuity at the last follow-up was 20/400. CONCLUSIONS: This study describes a distinct phenotype of LAMB2-related disease with a novel, homozygous LAMB2 variant, and further expands the spectrum of ophthalmic and renal features, and the molecular genetic basis, of LAMB2-related disease. Because the typical microcoria and nephrotic-range proteinuria might be absent, the retinal features can guide the diagnosis. FINANCIAL DISCLOSURE(S): The authors have no proprietary or commercial interest in any materials discussed in this article.

Prevalence of anti-SARS-CoV-2 antibody in hemodialysis facilities: a cross-sectional multicenter study from Madinah.

BACKGROUND: Since the occurrence of coronavirus disease in 2019 (COVID-19), the global community has witnessed its exponential spread with devastating outcomes within the general population and specifically within hemodialysis patients. OBJECTIVES: Compare the state of immunity to SARS-CoV-2 among hemodialysis patients and staff. DESIGN: Cross-sectional study with a prospective follow-up period. SETTING: Hemodialysis centers in Madinah region. PATIENTS AND METHODS: We prospectively tested for SARS-CoV-2 antibodies in dialysis patients using dialysis centers staff as controls. The participants were tested on four occasions when feasible for the presence of anti-SARS-CoV-2 antibodies. We also analyzed factors that might be associated with seropositivity. MAIN OUTCOME MEASURES: SARS-CoV-2 positivity using immunoglobulin G (IgG) levels SAMPLE SIZE: 830 participants, 677 patients and 153 dialysis centers staff as controls. RESULTS: Of the total participants, 325 (257 patients and 68 staff) were positive for SARS-CoV-2 IgG antibodies, for a prevalence of 38.0% and 44.4% among patients and staff, respectively (P=.1379). Participants with a history of COVID-19 or related symptoms were more likely to have positive IgG (P<.0001). Surprisingly, positivity was also center-dependent. In a multivariable logistic regression, a history of infection and related symptoms contributed significantly to developing immunity. CONCLUSION: The high prevalence of SARS-CoV-2 antibody among hemodialysis patients and previously asymptomatic staff suggested past asymptomatic infection. Some centers showed more immunity effects than others. LIMITATIONS: Unable to collect four samples for each participant; limited to one urban center. CONFLICT OF INTEREST: None.

Renal histopathology spectrum in children with kidney diseases in Saudi Arabia, 1998-2017.

OBJECTIVES: To identify the trends in the diagnostic frequency of glomerular disease subtypes by renal biopsy in children in Saudi Arabia over the last 20 years. METHODS: In this retrospective observational study, we identified all patients aged less than 18 years for whom native kidney biopsy was performed between 1998 and 2017. The period during which biopsy was performed (1998-2004, 2005-2011, and 2012-2017) and the demographic information and their association with the prevalence of various glomerular disease subtypes were our primary outcomes. Results: A total of 326 cases with renal biopsy were analyzed; the mean age of participants being 11 years and 45.4% of them were girls. Unexpectedly, secondary glomerulonephritis accounted for 42.3% of the cases, and lupus nephritis was the most common cause noted in 20.7% of the cases. The minimal change and focal segmental glomerulosclerosis were the most common glomerulonephritis in 59% of the cases. The frequency of membranoproliferative glomerulonephritis and mesangioproliferative glomerulonephritis significantly decreased from 15% and 17% in the period prior to 2004 to 3.3% (p=0.003) and 1.7% in 2012-2017 (p less than 0.001). CONCLUSIONS: We found a considerable shift in the frequency of many glomerular disease subtypes in 1998-2017, which make clinical predication of the underlying etiology challenging for clinician. Renal biopsy still remains a critical diagnostic procedure for managing a considerable proportion of renal diseases.

Frailty and mortality in dialysis: evaluation of a clinical frailty scale.

BACKGROUND AND OBJECTIVES: Frailty is associated with poor outcomes for patients on dialysis; however, previous studies have not taken into account the severity of frailty as a predictor of outcomes. The purpose of this study was to assess if there was an association between the degree of frailty and mortality among patients on incident dialysis. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: A cohort study of incident chronic dialysis patients was conducted between January of 2009 and June of 2013 (last follow-up in December of 2013). On the basis of overall clinical impression, the Clinical Frailty Scale (CFS) score was determined for patients at the start of dialysis by their primary nephrologist. This simple scale allocates a single point to different states of frailty (1, very fit; 2, well; 3, managing well; 4, vulnerable; 5, mildly frail; 6, moderately frail; 7, severely frail or terminally ill) with an emphasis on function of the assessed individual. The primary outcome was time to death. Patients were censored at the time of transplantation. RESULTS: The cohort consisted of 390 patients with completed CFS scores (mean age of 63±15 years old). Most were Caucasian (89%) and men (67%), and 30% of patients had ESRD caused by diabetic nephropathy. The median Charlson Comorbidity Index score was 4 (interquartile range =3-6), and the median CFS score was 4 (interquartile range =2-5). There were 96 deaths over 750 patient-years at risk. In an adjusted Cox survival analysis, the hazard ratio associated with each 1-point increase in the CFS was 1.22 (95% confidence interval, 1.04 to 1.43; P=0.02). CONCLUSIONS: A higher severity of frailty (as defined by the CFS) at dialysis initiation is associated with higher mortality.