Accurate molecular diagnosis of genetic eye diseases is extremely valuable in terms of the prognostic and therapeutic benefit it can provide. We offer a comprehensive selection of genetic tests to facilitate the diagnosis of a wide variety of hereditary ocular disorders, including retinal disorders, corneal dystrophies, and age-related ophthalmic conditions.
Articles on ophthalmology
Cataracts are a clouding of the lens in the eye, defined as opacification of the normally transparent crystalline lens. It is very common in older people and mostly related to aging. Cataracts can occur in one or both eyes affecting vision, i.e. clouding in the lens results in blurred vision.…
Understanding the epidemiology as well as the related mutation types that can cause ophthalmological diseases is of greatest benefit to support and help affected patients. Dr. Ashish Gupta, MD, Medical Geneticist and Consultant for CENTOGENE, showed in different case studies the effectiveness of…
Pierson Syndrome: A Case Report with a Neonatal Cardiac Association Based on a Novel Mutation in the LAMB2 Gene
Congenital nephrotic syndrome (CNS) combined with eye abnormalities including microcoria (small pupils that don’t respond to light) and abnormal lens shape can suggest a clinical diagnosis of Pierson syndrome (which mainly affects the kidneys and eyes). The clinical association of Pierson syndrome…