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
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Generation of iPSCs for Rare Diseases
Induced pluripotent stem cells (iPSCs) represent excellent in vitro models to study rare diseases and perform high-throughput drug screening. CENTOGENE has established iPSC technology for rare monogenetic diseases in its Rostock headquarters based on patient-derived fibroblasts.
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VEGF-A Gene Polymorphisms and Responses to Intravitreal Ranibizumab Treatment in Patients with Diabetic Macular Edema
The purpose of this study was to investigate the association between VEGF gene polymorphisms and the responses to treatment with intravitreal ranibizumab (IVR) in patients with diabetic macular edema (DME). This prospective study, conducted at the Kutahya Dumlupinar University Faculty of Medicine,…
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Cutaneous Freckling: Possible new Clinical Marker
Hermansky-Pudlak syndrome (HPS; MIM #203300) is a rare autosomal recessive disorder characterized by oculocutaneous albinism (OCA) and a bleeding diathesis. Other clinical features may include lysosomal accumulation of ceroid lipofuscin, granulomatous colitis, and pulmonary fibrosis that is often…
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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…