Today, genomic data holds great potential to improve healthcare strategies across various
dimensions–be it disease prevention, enhanced diagnosis, or optimized treatment. The …

Purpose To demonstrate the feasibility of identifying a germline RB1 pathogenic variant in
retinoblastoma (RB) from an aqueous humor (AH) sample. Methods In this pilot case series …

Background India accounts for 20% of the global retinoblastoma (RB) burden. However, the
existing data on RB1 gene germline mutations and its influence on clinical decisions is …

Background Neurological disorders are clinically heterogeneous group of disorders and are
major causes of disability and death. Several of these disorders are caused due to genetic …

Purpose To identify the accurate clinical diagnosis of rare syndromic inherited retinal
diseases (IRDs) based on the combination of clinical and genetic analyses. Methods Four …

Background Mutations in CERKL gene has been reported to cause Retinitis pigmentosa
(RP) and clinically appears discrete from other commonly encountered phenotypes. We …

Retinoblastoma (Rb) is the most common primary intraocular childhood malignancy and one
of the main causes of blindness in children. In China, most tumors are diagnosed at an …

Purpose: Inherited retinal dystrophies (IRD) are a heterogeneous group of retinal diseases
leading to progressive loss of photoreceptors through apoptosis. Retinitis pigmentosa (RP) …

Purpose Retinoblastoma, a childhood cancer originating in the retina, is primarily attributed
to pathogenic RB1 mutations The aim of this study is to conduct a mutational analysis of the …

Methods: The study included 20 unrelated families and 22 patients from an Indian
population who were screened for DMD based on phenotypes such as scoliosis, toe walking …