Genetic testing is becoming an increasingly important tool in determining the cause of hereditary ophthalmologic conditions. Currently, we know of more than 350 different genes associated with ophthalmologic diseases, including early-onset cataracts, glaucoma, retinitis pigmentosa, macular dystrophy, Stargardt disease, and Stickler syndrome among others. By providing a definitive diagnose through genetic testing, you can prevent or slow down the course of your patients’ eye diseases.
Articles on Ophthalmology
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…