This website provides information on patients with LRPAP1, including clinical data, molecular data, management and research options.
Mutations in the LRPAP1 gene cause an autosomal recessive high myopia, a disorder characterized by refractive error of or greater than -6.00 diopters, which is more associated with complications such as chorioretinal atrophy and retinal detachment.
This website was created to share and collect information about the clinical spectrum, management options and research projects in order to gather more knowledge and provide better treatment of patients with mutations in the LRPAP1 gene.
Fowzan S Alkuraya, MD (Hons) ABP ABMG (Clinical Genetics and Clinical Molecular Genetics), Department of Genetics, King Faisal Specialist Hospital and Research Center/ Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia, firstname.lastname@example.org
Fadie D. Altuame, MBBS Candidate, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia email@example.com