Rare Eye Diseases (RED) are the leading cause
of visual impairment and blindness for children
and young adults in Europe. More than900 REDs are listedin the portal for rarediseases and orphandrugs (ORPHANET).These include moreprevalent diseasessuch as retinitis pigmentosawhich hasan estimated prevalenceof 1 in 5 000,as well as some very rare entities describedonly 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 rareanterior segment conditions.In addition, six transversal working groups areaddressing issues common to the four mainthemes, like as low vision.
Additional working groups focus onspecific areas, including genetic testing, registries,research, education, communicationand patients.
The network’s main aim is the development ofa virtual clinic — known as EyeClin — to guaranteethe best coverage of REDs and facilitatecross-border dissemination of expertise.
Code ORPHA | Code ERN | Denomination |
---|---|---|
ORPHA:104 | Hereditary optic neuropathy | |
ORPHA:104 | Leber hereditary optic neuropathy | |
ORPHA:138 | CHARGE syndrome | |
ORPHA:2086 | Optic pathway glioma | |
ORPHA:215 | Congenital stationary night blindness | |
ORPHA:238624 | Idiopathic intracranial hypertension | |
ORPHA:2763 | Osteocraniostenosis | |
ORPHA:284804 | Ocular albinism | |
ORPHA:3157 | Septo-optic dysplasia spectrum | |
ORPHA:3437 | Vogt Koyanagi Harada disease | |
ORPHA:34533 | Distrofia corneale | |
ORPHA:359 | Pediatric-onset glaucoma of genetic origin | |
ORPHA:40923 | Eales disease | |
ORPHA:441434 | Hereditary optic neuropathy | |
ORPHA:441434 | Optic neuropathy | |
ORPHA:441447 | Early-onset posterior subcapsular cataract | |
ORPHA:441452 | Early-onset lamellar cataract | |
ORPHA:447788 | Cerebral visual impairment | |
ORPHA:519266 | Rare disorder of the ocular adnexa | |
ORPHA:55 | Oculocutaneous albinism | |
ORPHA:558 | Marfan syndrome | |
ORPHA:65 | Leber congenital amaurosis | |
ORPHA:651 | Congenital abnormal eye moviments | |
ORPHA:68367 | Metabolic disease associated with ocular features | |
ORPHA:68380 | Mitochondrial disease | |
ORPHA:71862 | Retinal dystrophy | |
ORPHA:791 | Retinitis pigmentosa | |
ORPHA:79212 | Metabolic disease associated with ocular features | |
ORPHA:79212 | Mucolipidosis | |
ORPHA:91495 | Persistent hyperplastic primary vitreous | |
ORPHA:98553 | Developmental defect of the eye | |
ORPHA:98634 | Anterior segment developmental anomaly without extraocular manifestations | |
ORPHA:98658 | Color-vision disease | |
ORPHA:98661 | Syndromic retinitis pigmentosa | |
ORPHA:98671 | Hereditary optic neuropathy |