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Whole Exome Sequencing (WES)

Allows for the simultaneous, automated, fast and accurate sequencing of all the coding regions (exons) of the human genome (approximately 20,000 genes, representing 1% of a human’s DNA) with an average coverage over 90x. Then, using bioinformatics programs, any genetic variants found in the genes that cause hereditary eye diseases are noted and analyzed. These regions contain 85% of the pathogenic mutations described as causing hereditary pathologies in humans.


It allows the genetic diagnosis of any ocular pathology that affects the optic nerve and the anterior and posterior segment of the eye. The main pathologies are listed below:

  • Anophthalmia

  • Anterior segment dysgenesis

  • Biotinidase deficiency

  • Blepharophimosis syndrome

  • Branchiooculofacial syndrome

  • Brittle cornea syndrome

  • Catarats

  • Charcot-Marie-Tooth disease

  • Ched corneal endothelial dystrophy

  • Chediak-Higashi syndrome

  • Coloboma

  • Congenital stromal corneal dystrophy

  • Corneal disease

  • Donnai-Barrow syndrome

  • Duane-radial ray syndrome

  • Ectopia lentis

  • EEC syndrome

  • Fehr corneal dystrophy

  • Fleck corneal dystrophy

  • Fraser syndrome

  • Fuchs' Endothelial Dystrophy

  • Gelatinous drop-like corneal dystrophy

  • Groenouw corneal dystrophy

  • Heimler syndrome

  • Keratoconus

  • Lattice dystrophy type I

  • Leber hereditary optic neuropathy

  • Lenz microphthalmia syndrome

  • Lowe syndrome

  • Macular dystrophy

  • Meesmann corneal dystrophy

  • Megalocornea

  • Microftalmia

  • Neuronal ceroid lipofuscinosis

  • Oculoauriculovertebral spectrum / Hemifacial microsomia

  • Oculodentodigital dysplasia

  • Oculofaciocardiodental syndrome

  • Optic neuropathy

  • Oral-facial-digital syndrome

  • Peters plus syndrome

  • Posterior polymorphous corneal dystrophy

  • Progressive external ophthalmoplegia

  • Reis-Bucklers corneal dystrophy

  • Retinal dystrophy syndrome

  • Retinal vasculopathy

  • Schnyder corneal dystrophy

  • Warburg micro syndrome

  • Wolfram syndrome

  • Xeroderma pigmentosum

  • Zellweger spectrum disorder

Regions analyzed

All coding regions of the genes in the human genome (approximately 20,000 genes), with special emphasis on genes previously associated with genetic pathologies.

Recommended for

This test is recommended when the clinical diagnosis indicates an eye disease that is not included in the full panel, or when the patient’s clinical diagnosis is unclear.

By studying the exome, the number of genes analysed greatly exceeds those included in the panels. From this approach new causative genes can be characterized, thereby expanding the genetic basis of eye diseases.

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