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  1. Ophthalmology

Genetic Testing for Ophthalmological Indications

Genetic testing is becoming an increasingly important tool in determining the cause of hereditary ophthalmologic conditions.

Symptoms relate to a genetic cause

Eye diseases with a genetic basis include those that are the leading causes of blindness among infants (Leber congenital amaurosis), children (early onset retinitis pigmentosa) and adults (pattern dystrophy). Hereditary ophthalmologic conditions vary significantly in their symptoms and severity; genetic testing can confirm their genetic nature and cause. Of the approximately 4,000 genetic diseases and syndromes known to affect humans, at least one-third involve the eye1. Ophtalmological symptoms can often be a deciding factor towards the diagnosis of a disease. The knowledge about a genetic cause, further defined disease features such as age of disease onset, heritable probability, and treatment options based on molecular insights and strategies. A genetic diagnosis is paramount to patient care2.

Referral reasons

  • Individuals with a positive family history of ophthalmological disease
  • Individuals without a positive family history but with symptoms resembling a specific disease indication
  • Individuals presenting with an ophthalmological disease with a pending diagnosis

Diagnostic strategy

Confirmation of a clinical diagnosis through genetic testing will likely change medical management and allows for genetic counseling. For each presented case and phenotype, a full medical report will be produced including a tailored diagnostic strategy, recommendations and a differential diagnosis, if applicable.

Clinical symptoms are not always the product of the same gene or genetic variation; any diagnosis is determined as a combination of the in-depth clinical information provided and the identified genetic cause.

What do we know about ophthalmology diseases?

Genetic factors play a role in many kinds of eye disease, including those diseases that are the leading cause of blindness among infants, children and adults. In adults, glaucoma and age-related macular degeneration are two of the leading causes of blindness. Currently we know of more than 200 different genes associated with diseases such as early-onset cataracts, glaucoma, retinitis pigmentosa, macular dystrophy, Stargardt disease and Stickler syndrome.

Congenital glaucoma, usually detected in early childhood, is a broad group of disorders that present with elevated intraocular pressure. A number of other conditions and syndromes may present with infantile glaucoma, along with other ocular and/or systemic findings. Associated syndromes include Aniridia (autosomal dominant) and anterior segment dysgenesis syndromes (both are autosomal dominant).

Retinitis pigmentosa is a non-syndromic or syndromic disease of the retina that causes night blindness and gradual vision loss. It occurs in 1:3000 to 1:7000 of the population3. The genetics of the pathways affected in this disease are complicated; the disease can be inherited in an autosomal dominant, autosomal recessive or x-linked manner.4

Stargardt disease is a common hereditary form of macular dystrophy with an estimated incidence of 1 in 10000 5. It is characterized by adolescent onset, central visual impairment and the frequent appearance of orange-yellow flecks. Other inherited macular dystrophies include Sorsby fundus dystrophy.

Stickler syndrome is a connective tissue disorder that can include myopia, cataracts and retinal detachment as well as manifestations in the inner ear, skeleton, and joints. It is normally caused by pathogenic variants in one of six genes (80-90% by mutations in one gene, COL2A1), though there may be others 6.

Single Gene Analysis


What can CENTOGENE do for you and your patients

CENTOGENE is a global leader in the diagnosis of rare genetic diseases and is CAP and CLIA certified that confirm the highest standards for diagnostic testing and reporting.

Our experience combined with our scientific expertise and medical competence has allowed the application of state-of-the-art technologies and the development of a unique, multi-ethnic mutation database.

In CentoMD®, the world’s largest mutation database for rare diseases with 57% of unpublished variants, we have carefully created and documented all variants that have clinical relevance for related symptoms supporting the precise diagnosis of a bone, skin and immune disease.

  1. MacDonald IM, Mah DY. Summary of heritable ocular disorders and selected systemic conditions with eye findings. Ophthalmic Genet 2000 21 29-49.
  2. Young TL. Ophthalmic genetics/inherited eye disease. Curr Opin Ophthalmol 2003 14 296-303.
  3. Haim M. Epidemiology of retinitis pigmentosa in Denmark. Acta Ophthalmol Scand Suppl. 2002;(233):1–34.
  4. Daiger SP, Bowne SJ, Sullivan LS. Perspective on genes and mutations causing retinitis pigmentosa. Arch Ophthalmol. 2007;125:151–8.
  5. Allikmets R, Shroyer NF, Singh N, Seddon JM, Lewis RA, Bernstein PS, Peiffer A, Zabriskie NA, Li Y, Hutchinson A, Dean M. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science. 1997 Sep 19;277(5333):1805-7.
  6. Snead MP, Yates JR. Clinical and molecular genetics of Stickler syndrome. Journal of medical genetics. 1999 May 1;36(5):353-9.

Scientific Articles on ophthalmology

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