Rare Eye Diseases (RED) are the leading cause of visual impairment and blindness for children and young adults in Europe. More than 900 REDs are listed in the portal for rare diseases and orphan drugs (ORPHANET). These include more prevalent diseases such as retinitis pigmentosa which has an estimated prevalence of 1 in 5000, as well as some very rare entities described only once or twice in medical literature.
ERN-EYE addresses these diseases in four thematic groups: rare diseases of the retina, neuro-ophthalmology rare diseases, paediatric ophthalmology rare diseases and rare anterior segment conditions.
The network’s main aim is the development of a virtual clinic to guarantee the best coverage of REDs and facilitate cross-border dissemination of expertise.
Code ORPHA | Code ERN | Denomination |
---|---|---|
ORPHA: 634518 | Neurofibromatosis/ schwannomatosis | |
ORPHA:104 | Leber optic atrophy | |
ORPHA:1239 | Behr syndrome | |
ORPHA:1243 | Best vitelliform macular distrophy | |
ORPHA:138 | CHARGE syndrome | |
ORPHA:179 | Birdshot chorioretinopathy | |
ORPHA:180 | Choroideremia | |
ORPHA:190 | Coats disease | |
ORPHA:2086 | Optic pathway glioma | |
ORPHA:215 | Congenital stationary night blindness | |
ORPHA:238624 | Idiopathic intracranial hypertension | |
ORPHA:263459 | Fuchs' Heterochromic Iridocyclitis | |
ORPHA:2763 | Osteocraniostenosis | |
ORPHA:3157 | Septo-optic dysplasia spectrum | |
ORPHA:3437 | Vogt Koyanagi Harada disease | |
ORPHA:34533 | Corneal distrophy | |
ORPHA:35737 | “Morning glory” anomaly | |
ORPHA:359 | Hereditary glaucoma | |
ORPHA:374 | Goldenhar syndrome | |
ORPHA:377 | Gorlin Goltz syndrome | |
ORPHA:40923 | Eales disease | |
ORPHA:414 | Gyrate atrophy | |
ORPHA:447788 | Cortical visual impairment | |
ORPHA:49382 | Achromatopsia | |
ORPHA:522548 | Genetic syndromic cataract | |
ORPHA:558 | Marfan syndrome | |
ORPHA:65 | Leber congenital amaurosis | |
ORPHA:71862 | Retinal dystrophy | |
ORPHA:782 | Axenfeld Rieger syndrome | |
ORPHA:790 | Retinoblastoma | |
ORPHA:791 | Retinitis pigmentosa | |
ORPHA:79212 | Mucolipidosis | |
ORPHA:797 | Sarcoidosis | |
ORPHA:827 | Stargardt disease | |
ORPHA:892 | Von Hippel Lindau disease | |
ORPHA:91492 | Early-onset non syndromic cataract | |
ORPHA:91495 | Persistent hyperplastic primary vitreous | |
ORPHA:98444 | Iris coloboma | |
ORPHA:98634 | Iridogoniodisgenesia | |
ORPHA:98661 | Syndromic retinitis pigmentosa | |
ORPHA:98671 | Hereditary optic neuropathy | |
ORPHA:98706 | Ocular or oculocutaneous albinism | |
ORPHA:98942 | Chorioretinal coloboma | |
ORPHA:98947 | Optic disc coloboma |