Psychological and functional outcomes of horizontal squint surgery in adults with no preoperative diplopia using Quality-of-Life AS-20 questionnaire.

Background: Corrective squint surgery has a significant psychological impact, affecting both the quality of life and mental health of patients. This study highlights the quantitative and subjective assessment of both the psychological and functional outcomes of squint surgery in adults having horizontal strabismus with no preoperative diplopia using a Quality-Of-Life Adult Strabismus 20 (QOL AS-20) questionnaire.

Method: The study is a retrospective cohort study on patients with uncomplicated, horizontal squint; with no vertical deviation and was conducted as part of a departmental clinical audit.

A Combined , and Clinical Approach to Characterize Novel Pathogenic Missense Variants in PRPF31 in Retinitis Pigmentosa.

At least six different proteins of the spliceosome, including PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, and SNRNP200, are mutated in autosomal dominant retinitis pigmentosa (adRP). These proteins have recently been shown to localize to the base of the connecting cilium of the retinal photoreceptor cells, elucidating this form of RP as a retinal ciliopathy. In the case of loss-of-function variants in these genes, pathogenicity can easily be ascribed.