Pathologies

Major visual disorders affecting the retina and the anterior segment of the eye amenable to genetic testing:

· Anterior segment mesenchymal dysgenesis
· Achromatopsia
· Albinism
· Aniridia
· Anophthalmia
· Axenfeld-Rieger syndrome
· Bardet-Biedl syndrome
· Bestrophinopathy
· Bothnia retinal dystrophy
· Brittle cornea
· Ceroid lipofuscinosis
· Choroideremia
· Coloboma
· Cone-rod dystrophy
· Congenital hereditary endothelial dystrophy II
· Congenital nystragmus
· Congenital stationary night blindness
· Congenital stromal corneal dystrophy
· Ectopia lentis
· Enhanced s-cone syndrome
· Epithelial basement membrane dystrophy
· Familial exudative vitreoretinopathy
· Fleck corneal dystrophy
· Familial bening fleck retina

 

 

· Foveomacular Vitelliform Dystrophy,
Adult-onset (AOFVD)
· Fuchs dystrophy
· Fundus albipunctatus
· Gelatinous drop-like corneal dystrophy
· Glanular corneal dystrophy
· Glaucoma
· Goldmann-Favre syndrome
· Hermansky-Pudlak syndrome
· Iris hypoplasia
· Joubert syndrome
· Lattice corneal dystrophy
· Leber Congenital Amaurosis (LCA)
· Leber Hereditary Optic Neuropathy (LHON)
· Macular corneal dystrophy
· Macular dystrophy
· Meckel syndrome
· Meesmann corneal dystrophy
· Megalocornea
· Microphthalmia
· Nanophthalmos
· Norrie disease
· Oculo facio cardio dental syndrome

· Oculocutaneous albinism
· Optic atrophy
· Peter’s anomaly
· Peters plus syndrome
· Posterior polymorphous corneal dystrophy
· Progressive External Ophthalmoplegia (PEO)
· Refsum disease
· Reis-Bücklers corneal dystrophy
· Retinoblastoma (hereditary)
· Retinitis pigmentosa
· Retinitis punctata albescens
· Retinoschisis, juvenile X-linked
· Schnyder crystalline corneal dystrophy
· Senior-Loken syndromes
· Sorsby
· Stargardt disease
· Stickler syndrome
· Usher syndrome
· Vitelliform macular dystrophy
· Vitreoretinochoroidopathy
· Waardenburg syndrome
· Wagner syndrome
· Wolfram syndrome