1. Articles on ophthalmology

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

  • 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…

  • Stickler syndrome

    Stickler syndrome is a rare inherited connective tissue disorder characterized by distinctive facial appearance, ocular findings, hearing loss, and mild joint problems. The characteristic flattened facial appearance in Stickler syndrome is a result of underdeveloped bones in the mid-face. Another…

  • 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.…

  • Understanding the epidemiology and related mutation types that can cause ophthalmological diseases

    Understanding the epidemiology as well as the related mutation types that can cause ophthalmological diseases is of greatest benefit to support and help affected patients. Dr. Ashish Gupta, MD, Medical Geneticist and Consultant for CENTOGENE, showed in different case studies the effectiveness of…