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 5 000, as well as some very rare entities described only once or twice in medical literature.

ERN EYE addresses these conditions in four thematic groups: rare diseases of the retina, neuro-ophthalmology rare diseases, paediatric ophthalmology rare diseases, and rare anterior segment conditions.

In addition, six transversal working groups are addressing issues common to the four main themes. Additional working groups focus on specific areas, including genetic testing, registries, research, education, communication and patients.

The network’s main aim is the development of a virtual clinic — known as EyeClin — to guarantee the best coverage of REDs and facilitate cross-border dissemination of expertise.


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Filter list publications

TitleAuthorsDateKeywordsIssue name
Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract.Lecca M, Mauri L, Gana S, Del Longo A, Morelli F, Nicotra R, Plumari M, Galli J, Sirchia F, Valente EM, Cavallari U, Mazza M, Signorini S, Errichiello E2024-06-05congenital cataract, crystallin, exome sequencing, genotype–phenotype correlation, next generation sequencing, phenotypic expansion, syndromic, variant clusteringClinical genetics
Letter to the editor on: prophylactic nicotinamide treatment protects from rotenone-induced neurodegeneration by increasing mitochondrial content and volume.Bocca C, Kouassi-Nzoughet J, Chao de la Barca JM, Bonneau D, Verny C, Gohier P, Orssaud C, Reynier P2024-04-05Glaucoma, Leber hereditary optic neuropathy, Mitochondria, Nicotinamide, Optic neuropathy, Retinal ganglion cells, Vitamine B3Acta neuropathologica communications
ATYPICAL FOVEAL AND PARAFOVEAL ABNORMALITIES IN SICKLE CELL DISEASE.Orssaud C, Flammarion E, Michon A, Ranque B, Arlet JB2024-03-01Retina (Philadelphia, Pa.)
Lived experiences of genetic diagnosis for rare disease patients: a qualitative interview study.Modelhart A, Sturz D, Kremslehner L, Prainsack B2024-02-14Genetic diagnosis, Healthcare system, Patient experiences, Qualitative interview study, Rare diseasesOrphanet journal of rare diseases
Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey.Mancuso M, Lopriore P, Lamperti C, Klopstock T, Rahman S, Licchetta L, Kornblum C, Wortmann SB, Dollfus H, Papadopoulou MT, Arzimanoglou A, Scarpa M, Graessner H, Evangelista T2024-02-01Europe, European Reference Networks, Mitochondrial diseases, Rare diseases, SurveyJournal of neurology
Whole-Exome Sequencing of 21 Families: Candidate Genes for Early-Onset High Myopia.Sánchez-Cazorla E, González-Atienza C, López-Vázquez A, Arruti N, Nieves-Moreno M, Noval S, Mena R, Rodríguez-Jiménez C, Rodríguez-Solana P, González-Iglesias E, Guerrero-Carretero M, D'Anna Mardero O, Coca-Robinot J, Acal JC, Blasco J, Castañeda C, Fraile Maya J, Del Pozo Á, Gómez-Pozo MV, Montaño VEF, Dios-Blázquez L, Rodríguez-Antolín C, Gómez-Cano MLÁ, Delgado-Mora L, Vallespín E2023-10-27candidate genes, early-onset high myopia, ophthalmogenetics, polygenic inheritance, whole-exome sequencingInternational journal of molecular sciences
Whole-Exome Sequencing of 24 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Keratoconus.González-Atienza C, Sánchez-Cazorla E, Villoldo-Fernández N, Del Hierro A, Boto A, Guerrero-Carretero M, Nieves-Moreno M, Arruti N, Rodríguez-Solana P, Mena R, Rodríguez-Jiménez C, Rosa-Pérez I, Acal JC, Blasco J, Naranjo-Castresana M, Ruz-Caracuel B, Montaño VEF, Ortega Patrón C, Rubio-Martín ME, García-Fernández L, Rikeros-Orozco E, Gómez-Cano MLÁ, Delgado-Mora L, Noval S, Vallespín E2023-09-22non-syndromic pediatric keratoconus, ophthalmogenetics, whole-exome sequencingGenes
Proptosis secondary to bilateral extraocular muscle enlargement in Noonan syndrome with hypertrophic cardiomyopathy: A case report.Marchione G, Pilotto E, Midena G2023-09-01Noonan syndrome, diagnostic studies, extraocular muscles enlargement, genetic disease/congenital abnormalities, neuro imaging, ocular motility disorders, orbital disease, pediatric ophthalmology, proptosis, restrictive hypertrophic cardiomyopathyEuropean journal of ophthalmology
Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts.Rodríguez-Solana P, Arruti N, Nieves-Moreno M, Mena R, Rodríguez-Jiménez C, Guerrero-Carretero M, Acal JC, Blasco J, Peralta JM, Del Pozo Á, Montaño VEF, Dios-Blázquez L, Fernández-Alcalde C, González-Atienza C, Sánchez-Cazorla E, Gómez-Cano MLÁ, Delgado-Mora L, Noval S, Vallespín E2023-07-13bilateral cataracts, lenses, non-syndromic pediatric cataracts, ophthalmogenetics, whole exome sequencingInternational journal of molecular sciences
Radius-Maumenee syndrome: A case series with a long-term follow-up.Elksne E, Steiner V, Hohensinn M, Reitsamer HA, Lenzhofer M2023-02-01Radius‐Maumenee syndrome, ab‐interno subconjunctival gel stent, glaucoma drainage device, idiopathic elevated episcleral venous pressure, secondary open‐angle glaucoma, trabeculectomy with mitomycin CClinical case reports
Leber Mitochondrial Optic Neuropathy in Pediatric Females With Focus on Very Early Onset Cases.Tagliani S, Malaventura C, Ceccato C, Parmeggiani F, Suppiej A2023-02-01children, mitochondrial disorder, neuro-ophthalmology, neuropathy, pseudotumor cerebriJournal of child neurology
OPA1 Dominant Optic Atrophy: Diagnostic Approach in the Pediatric Population.Arruti N, Rodríguez-Solana P, Nieves-Moreno M, Guerrero-Carretero M, Del Pozo Á, Montaño VEF, Santos-Simarro F, Rikeros-Orozco E, Delgado-Mora L, Vallespín E, Noval S2023-01-05Kjer type, OPA1, dominant optic atrophy, mitochondrial neuropathiesCurrent issues in molecular biology
Relationship between paramacular thinning, cerebral vasculopathy, and hematological risk factors in sickle cell disease.Orssaud C, Flamarion E, Michon A, Ranque B, Arlet JB2023-01-01OCT, cerebral vasculopathy, hemolysis (red blood cells), maculopathy, optical coherence tomography angiography (OCT-A), sickle cell diseaseFrontiers in medicine
Current Management of Patients with RPE65 Mutation Associated Inherited Retinal Degenerations in Europe: Results of a 2-Year Follow-Up Multinational Survey.Lorenz B, Tavares J, van den Born LI, Marques JP, Pilotto E, Stingl K, Charbel Issa P, Leroux D, Dollfus H, Scholl HPN2023-01-01ERN-EYE HCPs, clinical centers, Europe, Inherited retinal degenerations, Management, RPE65Ophthalmic research
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.Panneman DM, Hitti-Malin RJ, Holtes LK, de Bruijn SE, Reurink J, Boonen EGM, Khan MI, Ali M, Andréasson S, De Baere E, Banfi S, Bauwens M, Ben-Yosef T, Bocquet B, De Bruyne M, de la Cerda B, Coppieters F, Farinelli P, Guignard T, Inglehearn CF, Karali M, Kjellström U, Koenekoop R, de Koning B, Leroy BP, McKibbin M, Meunier I, Nikopoulos K, Nishiguchi KM, Poulter JA, Rivolta C, Rodríguez de la Rúa E, Saunders P, Simonelli F, Tatour Y, Testa F, Thiadens AAHJ, Toomes C, Tracewska AM, Tran HV, Ushida H, Vaclavik V, Verhoeven VJM, van de Vorst M, Gilissen C, Hoischen A, Cremers FPM, Roosing S2023-01-01cost-effective, high-throughput, inherited retinal diseases, smMIPs, targeted gene sequencingFrontiers in cell and developmental biology
Denuded Descemet's membrane supports human embryonic stem cell-derived retinal pigment epithelial cell culture.Daniele E, Bosio L, Hussain NA, Ferrari B, Ferrari S, Barbaro V, McArdle B, Rassu N, Mura M, Parmeggiani F, Ponzin D2023-01-01PloS one
Current Management of Inherited Retinal Degeneration Patients in Europe: Results of a 2-Year Follow-Up Multinational Survey by the European Vision Institute Clinical Research Network - B, Tavares J, van den Born LI, Marques JP, Pilotto E, Stingl K, Charbel Issa P, Leroux D, Dollfus H, Scholl HPN2023-01-01ERN-EYE health care providers, clinical centers, Europe, Inherited retinal degenerations, ManagementOphthalmic research
[Leber hereditary optic neuropathy: differential diagnosis].Orssaud C2022-11-01Alcohol, Alcool, Déficit vitaminique, Electrophysiology, MOGAD : désordre associé aux anticorps antiglycoprotéine oligodendrocytaire de la myéline Neuropathie optique toxique, MOGAD: Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease, Maculopathie, Maculopathy, Multiple sclerosis, NMOSD : maladies du spectre de la neuromyélite optique, NMOSD: Neuro Myelitis Optica Spectrum Disorders, Névrite optique, OCT, Optic neuritis, Sclérose en plaques, Stargardt, Toxic optic neuropathy, Vitamin deficiency, ÉlectrophysiologieJournal francais d'ophtalmologie
Two novel compound heterozygous SAG mutations in an Italian patient with Oguchi disease: A genetic and multimodal retinal imaging study.Pilotto E, Trevisson E, Nacci EB, Longhin E, Guidolin F, Midena E2022-11-01Mizuo Nakamura phenomenon, OCT, Oguchi disease, SAG gene, congenital stationary night blindnessEuropean journal of ophthalmology
Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants.Poncet AF, Grunewald O, Vaclavik V, Meunier I, Drumare I, Pelletier V, Bocquet B, Todorova MG, Le Moing AG, Devos A, Schorderet DF, Jobic F, Defoort-Dhellemmes S, Dollfus H, Smirnov VM, Dhaenens CM2022-04-13MFSD8 gene, deep intronic variant, isolated macular dystrophy, neuronal ceroid lipofuscinosis, transcript analysisInternational journal of molecular sciences
RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study.Testa F, Murro V, Signorini S, Colombo L, Iarossi G, Parmeggiani F, Falsini B, Salvetti AP, Brunetti-Pierri R, Aprile G, Bertone C, Suppiej A, Romano F, Karali M, Donati S, Melillo P, Sodi A, Quaranta L, Rossetti L, Buzzonetti L, Chizzolini M, Rizzo S, Staurenghi G, Banfi S, Azzolini C, Simonelli F2022-02-01Investigative ophthalmology & visual science
Case Report: Abnormalities of sperm motility and morphology in a patient with Leber hereditary optic neuropathy: Improvement after idebenone therapy.Orssaud C, Barraud Lange V, Wolf JP, LeFoll N, Soufir JC2022-01-01Leber hereditary optic neuropathy, idebenone, mtDNA mutation, sperm motility, spermatogenesisFrontiers in neurology
Case Report: Multiple Retinal Astrocytic Hamartomas in Congenital Disorder of Glycosylation-Ia.Midena G, Pilotto E2022-01-01OCT, astrocytic hamartoma, autofluorescence, congenital disorder of glycosylation-Ia, metabolic disease, multimodal imaging, retinal dystrophyFrontiers in medicine
Retinal Glial Cells in Von Hippel-Lindau Disease: A Novel Approach in the Pathophysiology of Retinal Hemangioblastoma.Pilotto E, Midena G, Torresin T, De Mojà G, Bacelle ML, Ferrara AM, Zovato S, Midena E2021-12-30OCT, Von Hippel–Lindau disease, astrocytes, retinal hemangioblastoma, retinal macroglia, retinal microgliaCancers
CRB1-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms.Mairot K, Smirnov V, Bocquet B, Labesse G, Arndt C, Defoort-Dhellemmes S, Zanlonghi X, Hamroun D, Denis D, Picot MC, David T, Grunewald O, Pégart M, Huguet H, Roux AF, Kalatzis V, Dhaenens CM, Meunier I2021-11-23CRB1, Leber congenital amaurosis, Müller cells, early onset retinal dystrophy, isoforms, macular dystrophy, pathogenic variant, photoreceptors, rod-cone dystrophy, spectral domain optical coherence tomographyInternational journal of molecular sciences
Retinitis Punctata Albescens and RLBP1-Allied Phenotypes: Phenotype-Genotype Correlation and Natural History in the Aim of Gene Therapy.Bocquet B, El Alami Trebki H, Roux AF, Labesse G, Brabet P, Arndt C, Zanlonghi X, Defoort-Dhellemmes S, Hamroun D, Boulicot-Séguin C, Lequeux L, Picot MC, Huguet H, Audo I, Dhaenens CM, Kalatzis V, Meunier I2021-09-01BD, Bothnia dystrophy, Bothnia dystrophy, CRALBP, CRALBP, cellular retinaldehyde-binding protein, EZ, ellipsoid zone, GVF, Goldmann visual field, IRD, inherited retinal dystrophy, IZ, interdigitation zone, NFRCD, Newfoundland rod–cone dystrophy, NMD, nonsense-mediated mRNA decay, Newfoundland rod–cone dystrophy, RCD, rod–cone dystrophy, RLBP1, RPA, retinitis punctata albescens, RPE, retinal pigment epithelium, SD, spectral-domain, gene therapy, retinitis punctata albescens, spectral-domain OCT, variant classification, visual cycle, white dotsOphthalmology science
Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy.Gabrielle PH, Faivre L, Audo I, Zanlonghi X, Dollfus H, Thiadens AAHJ, Zeitz C, Mancini GMS, Perdomo Y, Mohand-Saïd S, Lizé E, Lhussiez V, Nandrot EF, Acar N, Creuzot-Garcher C, Sahel JA, Ansar M, Thauvin-Robinet C, Duplomb L, Da Costa R2021-08-12Scientific reports
Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.Smirnov V, Grunewald O, Muller J, Zeitz C, Obermaier CD, Devos A, Pelletier V, Bocquet B, Andrieu C, Bacquet JL, Lebredonchel E, Mohand-Saïd S, Defoort-Dhellemmes S, Sahel JA, Dollfus H, Zanlonghi X, Audo I, Meunier I, Boulanger-Scemama E, Dhaenens CM2021-06-15TTLL5 gene, cone-rod dystrophy, early onset severe retinal dystrophy, large deletion, novel variantsInternational journal of molecular sciences
European Reference Networks: challenges and opportunities.Tumiene B, Graessner H, Mathijssen IM, Pereira AM, Schaefer F, Scarpa M, Blay JY, Dollfus H, Hoogerbrugge N2021-04-01Journal of community genetics
The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement.Black GC, Sergouniotis P, Sodi A, Leroy BP, Van Cauwenbergh C, Liskova P, Grønskov K, Klett A, Kohl S, Taurina G, Sukys M, Haer-Wigman L, Nowomiejska K, Marques JP, Leroux D, Cremers FPM, De Baere E, Dollfus H2021-03-20ERN-EYE, Genetic and genomic testing, Position statement, Rare eye diseasesOrphanet journal of rare diseases
Structural and microvascular changes of the peripapillary retinal nerve fiber layer in Von Hippel-Lindau disease: an OCT and OCT angiography study.Pilotto E, Nacci EB, De Mojà G, Ferrara AM, Parrozzani R, Londei D, Zovato S, Midena E2021-01-08Scientific reports
The Epidemiological and Clinical Findings from the Latvian Registry of Primary Congenital Glaucoma and Evaluation of Prognostic Factors.Elksne E, Baumane K, Ozolins A, Valeina S2021-01-07clinical findings, incidence, primary congenital glaucoma, primary paediatric glaucoma, surgical treatmentMedicina (Kaunas, Lithuania)
Consensus clinical management guidelines for Alström syndrome.Tahani N, Maffei P, Dollfus H, Paisey R, Valverde D, Milan G, Han JC, Favaretto F, Madathil SC, Dawson C, Armstrong MJ, Warfield AT, Düzenli S, Francomano CA, Gunay-Aygun M, Dassie F, Marion V, Valenti M, Leeson-Beevers K, Chivers A, Steeds R, Barrett T, Geberhiwot T2020-09-21Alström syndrome, Blindness, Cardiomyopathy, Deafness, Guidelines, Insulin resistance, Non-alcoholic fatty liver disease, Obesity, Rare diseaseOrphanet journal of rare diseases
Multirater Validation of Peripapillary Hyperreflective Ovoid Mass-like Structures (PHOMS).Petzold A, Biousse V, Bursztyn L, Costello F, Crum A, Digre K, Fraser C, Fraser JA, Katz B, Jurkute N, Newman N, Lautrup-Battistini J, Lawlor M, Liskova P, Lorenz B, Malmqvist L, Peragallo J, Sibony P, Subramanian P, Rejdak R, Nowomiejska K, Touitou V, Warner J, Wegener M, Wong S, Yu-Wai-Man P, Hamann S2020-01-01OCT, ODD, PHOMSNeuro-ophthalmology (Aeolus Press)
Case for a new corticosteroid treatment trial in optic neuritis: review of updated evidence.Petzold A, Braithwaite T, van Oosten BW, Balk L, Martinez-Lapiscina EH, Wheeler R, Wiegerinck N, Waters C, Plant GT2020-01-01immunology, neuro-ophthalmology, neurochemistry, ophthalmology, visionJournal of neurology, neurosurgery, and psychiatry
[Congenital aniridia in children].Bremond-Gignac D2019-01-01children, congenital aniridiaLa Revue du praticien
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Last update: June 8th, 2024 on 01:30