Compound Homozygous Rare Mutations in PLCE1 and HPS1 Genes Associated with Autosomal Recessive Retinitis Pigmentosa in Pakistani Families.

Background: Retinitis pigmentosa (RP) belongs to pigmentary retinopathies, a generic name for all retinal dystrophies with a major phenotypical and genotypical variation, characterized by progressive reduction of photo-receptor functionality of the rod and cone. Global prevalence of RP is ~ 1/4000 and it can be inherited as autosomal dominant (adRP), autosomal recessive (arRP) or X- linked (xlRP). We designed this study to identify causative mutations in Pakistani families affected with arRP.

Megakaryocytic Clustering in Chronic Myeloid Leukemia: Can it be a Predictor of Clinical Outcome?

Objective: To compare clinical outcome in patients of chronic myeloid leukemia (CML) with and without megakaryocytic clustering.

Study Design: Cross-sectional comparative study.

Place And Duration Of Study: Pathology Department and CML Clinic Oncology Department, King Edward Medical University from March 2018 to March 2019.