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
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,…
Familial benign fleck retina is an autosomal recessive condition associated with a distinctive retinal appearance and no apparent visual or electrophysiologic deficits. Affected individuals are asymptomatic, but fundus examination reveals a striking pattern of diffuse, yellow-white, fleck-like…
Optic atrophy (OPA) is a neuro-ophthalmic condition characterized by a bilateral degeneration of the optic nerves, causing severe visual loss, typically starting during the first decade of life. The disease affects primarily the retinal ganglion neurons and their axons forming the optic nerve, which…
Ataxia with oculomotor apraxia (AOA) is a rare inherited disease characterized by childhood onset of slowly progressive cerebellar ataxia, followed by oculomotor apraxia and a severe primary motor peripheral axonal motor neuropathy. There are 2 major subtypes of AOA, type 1 and type 2, which are…