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
