Italiano Inglese
Home > European References Networks > ERN-EYE - European Reference Network on Rare Eye Diseases

ERN-EYE - European Reference Network for Rare Eye Diseases

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.

Related Structures

UOC Clinica Oculistica
UOC Clinica Pediatrica

Desease list

Code ORPHACode ERNDenomination
ORPHA: 634518Neurofibromatosis/ schwannomatosis
ORPHA:104Leber optic atrophy
ORPHA:1239Behr syndrome
ORPHA:1243Best vitelliform macular distrophy
ORPHA:138CHARGE syndrome
ORPHA:179Birdshot chorioretinopathy
ORPHA:180Choroideremia
ORPHA:190Coats disease
ORPHA:2086Optic pathway glioma
ORPHA:215Congenital stationary night blindness
ORPHA:238624Idiopathic intracranial hypertension
ORPHA:263459Fuchs' Heterochromic Iridocyclitis
ORPHA:2763Osteocraniostenosis
ORPHA:3157Septo-optic dysplasia spectrum
ORPHA:3437Vogt Koyanagi Harada disease
ORPHA:34533Corneal distrophy
ORPHA:35737“Morning glory” anomaly
ORPHA:359Hereditary glaucoma
ORPHA:374Goldenhar syndrome
ORPHA:377Gorlin Goltz syndrome
ORPHA:40923Eales disease
ORPHA:414Gyrate atrophy
ORPHA:447788Cortical visual impairment
ORPHA:49382Achromatopsia
ORPHA:522548Genetic syndromic cataract
ORPHA:558Marfan syndrome
ORPHA:65Leber congenital amaurosis
ORPHA:71862Retinal dystrophy
ORPHA:782Axenfeld Rieger syndrome
ORPHA:790Retinoblastoma
ORPHA:791Retinitis pigmentosa
ORPHA:79212Mucolipidosis
ORPHA:797Sarcoidosis
ORPHA:827Stargardt disease
ORPHA:892Von Hippel Lindau disease
ORPHA:91492Early-onset non syndromic cataract
ORPHA:91495Persistent hyperplastic primary vitreous
ORPHA:98444Iris coloboma
ORPHA:98634Iridogoniodisgenesia
ORPHA:98661Syndromic retinitis pigmentosa
ORPHA:98671Hereditary optic neuropathy
ORPHA:98706Ocular or oculocutaneous albinism
ORPHA:98942Chorioretinal coloboma
ORPHA:98947Optic disc coloboma