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

  • 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.

  • Flecked retina

    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

    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…

  • Oculomotor apraxia

    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…

  • Retinitis pigmentosa

    Retinitis pigmentosa (RP) refers to a group of rare inherited diseases characterized by abnormalities of the photoreceptors of the retina, leading to progressive visual loss. The prevalence of retinitis pigmentosa is 1:3000 to 1:7000 persons, or 14 to 33 per 100,000. Retinitis pigmentosa that does…