| Application of Artificial Intelligence Models to Predict the Onset or Recurrence of Neovascular Age-Related Macular Degeneration. | Sorrentino FS, Zeppieri M, Culiersi C, Florido A, De Nadai K, Adamo GG, Pellegrini M, Nasini F, Vivarelli C, Mura M, Parmeggiani F | 2024-10-28 | artificial intelligence, deep learning, neovascular age-related macular degeneration, retinal biomarkers, therapy prediction | Pharmaceuticals (Basel, Switzerland) |
| Genetic Features of Uveal Melanoma. | Sorrentino FS, Culiersi C, Florido A, De Nadai K, Adamo GG, Nasini F, Vivarelli C, Mura M, Parmeggiani F | 2024-10-22 | genetic analysis, metastatic risk prediction, uveal melanoma | Genes |
| Correction: Long-Term Follow-Up Before and During Riluzole Treatment in Six Patients from Two Families with Spinocerebellar Ataxia Type 7. | Suppiej A, Ceccato C, Tzekov R, Cermakova I, Parmeggiani F, Bellucci G, Salvetti M, Zesiewicz T, Ristori G, Romano S | 2024-09-13 | | Cerebellum (London, England) |
| Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene. | Di Iorio E, Adamo GG, Sorrentino U, De Nadai K, Barbaro V, Mura M, Pellegrini M, Boaretto F, Tavolato M, Suppiej A, Nasini F, Salviati L, Parmeggiani F | 2024-08-10 | EYS gene variant, Autosomal recessive retinitis pigmentosa, Copy-number variation, Genetic testing, Inherited retinal dystrophy, Pseudodominant inheritance | Scientific reports |
| Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations. | Dollfus H, Lilien MR, Maffei P, Verloes A, Muller J, Bacci GM, Cetiner M, van den Akker ELT, Grudzinska Pechhacker M, Testa F, Lacombe D, Stokman MF, Simonelli F, Gouronc A, Gavard A, van Haelst MM, Koenig J, Rossignol S, Bergmann C, Zacchia M, Leroy BP, Mosbah H, Van Eerde AM, Mekahli D, Servais A, Poitou C, Valverde D | 2024-07-31 | | European journal of human genetics : EJHG |
| Therapies for Inherited Retinal Dystrophies: What is Enough? | Leroy BP, Daly A, Héon E, Sahel JA, Dollfus H | 2024-07-09 | | Drug discovery today |
| Long-Term Follow-Up before and during Riluzole Treatment in Six Patients from Two Families with Spinocerebellar Ataxia Type 7. | Agnese S, Chiara C, Radouil T, Iveta C, Francesco P, Gianmarco B, Marco S, Theresa Z, Giovanni R, Silvia R | 2024-07-08 | Cerebellar ataxia, Inherited retinal dystrophies, Natural history, Paediatric, Spinocerebellar degenerations | Cerebellum (London, England) |
| Impacts of X-linked Retinitis Pigmentosa and Patient Pathways in European Countries: Results from the Cross-sectional EXPLORE XLRP-1 Physician Survey. | Pungor K, Lee J, Denee T, Kambarov Y, Nissinen R, Ampeh K, Pellegrini M, Parmeggiani F | 2024-07-08 | Disease impact, Genetic testing, Geneticists, Patient pathways, Quality of life, Retina specialists, Survey study, X-linked retinitis pigmentosa | Advances in therapy |
| Crossed VEP asymmetry in a patient with AHR-linked infantile nystagmus and foveal hypoplasia. | Smirnov VM, Lasseaux E, Michaud V, Courdier C, Meunier I, Arveiler B, Defoort-Dhellemmes S | 2024-06-26 | AHR gene, Crossed VEP asymmetry, Foveal hypoplasia, Infantile nystagmus | Documenta ophthalmologica. Advances in ophthalmology |
| Quality of life, functioning and participation of children and adolescents with visual impairment: A scoping review. | Lanza M, Incagli F, Ceccato C, Reffo ME, Mercuriali E, Parmeggiani F, Pagliano E, Saletti V, Leonardi M, Suppiej A, Dollfus H, LeBreton D, Finger RP, Leroy BP, Zemaitiene R, Nowomiejska K, Guastafierro E | 2024-06-12 | Children and adolescents, Functioning, PROMs, Participation, Quality of Life (QoL), Visual impairment | Research in developmental disabilities |
| 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 E | 2024-06-05 | congenital cataract, crystallin, exome sequencing, genotype–phenotype correlation, next generation sequencing, phenotypic expansion, syndromic, variant clustering | Clinical 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 P | 2024-04-05 | Glaucoma, Leber hereditary optic neuropathy, Mitochondria, Nicotinamide, Optic neuropathy, Retinal ganglion cells, Vitamine B3 | Acta neuropathologica communications |
| ATYPICAL FOVEAL AND PARAFOVEAL ABNORMALITIES IN SICKLE CELL DISEASE. | Orssaud C, Flammarion E, Michon A, Ranque B, Arlet JB | 2024-03-01 | | Retina (Philadelphia, Pa.) |
| Lived experiences of genetic diagnosis for rare disease patients: a qualitative interview study. | Modelhart A, Sturz D, Kremslehner L, Prainsack B | 2024-02-14 | Genetic diagnosis, Healthcare system, Patient experiences, Qualitative interview study, Rare diseases | Orphanet 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 T | 2024-02-01 | Europe, European Reference Networks, Mitochondrial diseases, Rare diseases, Survey | Journal 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 E | 2023-10-27 | candidate genes, early-onset high myopia, ophthalmogenetics, polygenic inheritance, whole-exome sequencing | International 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 E | 2023-09-22 | non-syndromic pediatric keratoconus, ophthalmogenetics, whole-exome sequencing | Genes |
| Proptosis secondary to bilateral extraocular muscle enlargement in Noonan syndrome with hypertrophic cardiomyopathy: A case report. | Marchione G, Pilotto E, Midena G | 2023-09-01 | Noonan syndrome, diagnostic studies, extraocular muscles enlargement, genetic disease/congenital abnormalities, neuro imaging, ocular motility disorders, orbital disease, pediatric ophthalmology, proptosis, restrictive hypertrophic cardiomyopathy | European 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 E | 2023-07-13 | bilateral cataracts, lenses, non-syndromic pediatric cataracts, ophthalmogenetics, whole exome sequencing | International 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 M | 2023-02-01 | Radius‐Maumenee syndrome, ab‐interno subconjunctival gel stent, glaucoma drainage device, idiopathic elevated episcleral venous pressure, secondary open‐angle glaucoma, trabeculectomy with mitomycin C | Clinical 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 A | 2023-02-01 | children, mitochondrial disorder, neuro-ophthalmology, neuropathy, pseudotumor cerebri | Journal 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 S | 2023-01-05 | Kjer type, OPA1, dominant optic atrophy, mitochondrial neuropathies | Current 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 JB | 2023-01-01 | OCT, cerebral vasculopathy, hemolysis (red blood cells), maculopathy, optical coherence tomography angiography (OCT-A), sickle cell disease | Frontiers 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 HPN | 2023-01-01 | ERN-EYE HCPs, EVICR.net clinical centers, Europe, Inherited retinal degenerations, Management, RPE65 | Ophthalmic 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 S | 2023-01-01 | cost-effective, high-throughput, inherited retinal diseases, smMIPs, targeted gene sequencing | Frontiers 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 D | 2023-01-01 | | PloS 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 - EVICR.net. | Lorenz B, Tavares J, van den Born LI, Marques JP, Pilotto E, Stingl K, Charbel Issa P, Leroux D, Dollfus H, Scholl HPN | 2023-01-01 | ERN-EYE health care providers, EVICR.net clinical centers, Europe, Inherited retinal degenerations, Management | Ophthalmic research |
| [Leber hereditary optic neuropathy: differential diagnosis]. | Orssaud C | 2022-11-01 | Alcohol, 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, Électrophysiologie | Journal 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 E | 2022-11-01 | Mizuo Nakamura phenomenon, OCT, Oguchi disease, SAG gene, congenital stationary night blindness | European 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 CM | 2022-04-13 | MFSD8 gene, deep intronic variant, isolated macular dystrophy, neuronal ceroid lipofuscinosis, transcript analysis | International 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 F | 2022-02-01 | | Investigative 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 JC | 2022-01-01 | Leber hereditary optic neuropathy, idebenone, mtDNA mutation, sperm motility, spermatogenesis | Frontiers in neurology |
| Case Report: Multiple Retinal Astrocytic Hamartomas in Congenital Disorder of Glycosylation-Ia. | Midena G, Pilotto E | 2022-01-01 | OCT, astrocytic hamartoma, autofluorescence, congenital disorder of glycosylation-Ia, metabolic disease, multimodal imaging, retinal dystrophy | Frontiers 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 E | 2021-12-30 | OCT, Von Hippel–Lindau disease, astrocytes, retinal hemangioblastoma, retinal macroglia, retinal microglia | Cancers |
| 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 I | 2021-11-23 | CRB1, Leber congenital amaurosis, Müller cells, early onset retinal dystrophy, isoforms, macular dystrophy, pathogenic variant, photoreceptors, rod-cone dystrophy, spectral domain optical coherence tomography | International 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 I | 2021-09-01 | BD, 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 dots | Ophthalmology 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 R | 2021-08-12 | | Scientific 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 CM | 2021-06-15 | TTLL5 gene, cone-rod dystrophy, early onset severe retinal dystrophy, large deletion, novel variants | International 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 N | 2021-04-01 | | Journal 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 H | 2021-03-20 | ERN-EYE, Genetic and genomic testing, Position statement, Rare eye diseases | Orphanet 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 E | 2021-01-08 | | Scientific 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 S | 2021-01-07 | clinical findings, incidence, primary congenital glaucoma, primary paediatric glaucoma, surgical treatment | Medicina (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 T | 2020-09-21 | Alström syndrome, Blindness, Cardiomyopathy, Deafness, Guidelines, Insulin resistance, Non-alcoholic fatty liver disease, Obesity, Rare disease | Orphanet 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 S | 2020-01-01 | OCT, ODD, PHOMS | Neuro-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 GT | 2020-01-01 | immunology, neuro-ophthalmology, neurochemistry, ophthalmology, vision | Journal of neurology, neurosurgery, and psychiatry |
| [Congenital aniridia in children]. | Bremond-Gignac D | 2019-01-01 | children, congenital aniridia | La Revue du praticien |
