Sex Distributions in the Most Frequent Autosomal Genetic Causes of Retinitis Pigmentosa.

Purpose: The purpose of this study was to explore whether sex imbalances are detectable in the most frequent genetic causes of retinitis pigmentosa (RP).

Methods: Databases from centers in three countries (Moorfields Eye Hospital, London; Hospital for Sick Children, Toronto; and Australian Inherited Retinal Disease Registry, Perth, Australia) were searched, quantifying numbers of male and female patients with disease attributed to variants in the six most frequently involved autosomal RP genes. Proportions of female patients (with 95% confidence intervals [CIs]) were calculated for each gene.

Retinal Degeneration Diagnosed at 12 and 13 Months and Sensorineural Hearing Loss in Two Unrelated Female Infants With PRS Deficiency.

Phosphoribosyl pyrophosphate synthetase (PRS) deficiency, an X-linked condition caused by loss-of-function variants in PRPS1, manifests as a phenotypic continuum encompassing three previously distinct disorders: Arts syndrome, Charcot-Marie-Tooth neuropathy X type 5 (CMTX5), and X-linked nonsyndromic sensorineural hearing loss (DFNX1). Males are typically more severely affected, while females with the same variant often present with milder forms. We report two unrelated female patients with progressive sensorineural hearing loss and very early-onset retinal degeneration, at 12 and 13 months, respectively, and a pathogenic PRPS1 c.

Retinograd-AI: An Open-Source Automated Fundus Autofluorescence Retinal Image Gradability Assessment for Inherited Retinal Diseases.

Purpose: To develop an automated system for assessing the quality of fundus autofluorescence (FAF) images in patients with inherited retinal diseases (IRDs).

Design: A retrospective study of imaging data.

Participants: Patients with a confirmed molecular diagnosis of IRD who have undergone FAF imaging at Moorfields Eye Hospital.

Impact of Clinical Outcomes and Prognostic Nutritional Index in Patients with Advanced Pancreatic Cancer Treated at a Tertiary Care Hospital in Pakistan.

Aim And Background: The prognosis of advanced pancreatic cancer is also found to be associated with the host's nutritional status. The prognostic nutritional index (PNI) is an emerging marker that uses serum albumin and lymphocyte count, found to be a potent prognostic measure in many malignancies. However, its efficacy in predicting clinical outcomes in pancreatic cancer is not well explored in low- and middle-income countries (LMICs), like Pakistan.