1. Articles on ophthalmology


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

  • Albinism

    Albinism is an inherited genetic condition that reduces the amount of melanin pigment formed in the eyes, skin, and/or hair. The most common form of albinism is oculocutaneous albinism (OCA), a group of autosomal recessive disorders caused by a reduction of melanin biosynthesis in the melanocytes…

  • Cataract

    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.…

  • Cone-rod and cone dystrophy panel

    Cone-rod dystrophies (CORD) are inherited retinal degenerations characterized by cone degeneration precedes the rod degeneration. Prevalence of CORD is estimated to be 1 in 40,000 1, 2. The early manifestations of CORD include decreased visual acuity, color vision defects, and photophobia, with…

  • Usher syndrome

    Usher syndrome (USH) is an autosomal recessive disease characterized by hearing loss, retinitis pigmentosa and, in some cases, vestibular dysfunction. It is clinically and genetically heterogeneous and is the most common cause of combined deafness and blindness.

  • 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,…