2023

1. The Italian reappraisal on the most frequent genetic defects in hereditary optic neuropathies and the global top 10.

Fiorini C, Ormanbekova D, Palombo F, Carbonelli M, Amore G, Romagnoli M, d’Agati P, Valentino ML, Barboni P, Cascavilla ML, De Negri A, Sadun F, Carta A, Testa F, Petruzzella V, Guerriero S, Bianchi Marzoli S, Carelli V, La Morgia C, Caporali L.

Brain. 2023 Mar 13:awad080. doi: 10.1093/brain/awad080. 

2. Choroidal vascularity index in hereditary optic neuropathies.

Battista M, Cascavilla ML, Borrelli E, Barresi C, Lari G, Caporali L, Viganò C, Berni A, Carelli V, Bandello F, Barboni P.

Eye (Lond). 2023 Feb 7. doi: 10.1038/s41433-023-02383-5. 

 

2022

1. Childhood-Onset Leber Hereditary Optic Neuropathy-Clinical and Prognostic Insights.

Barboni P, La Morgia C, Cascavilla ML, Hong EH, Battista M, Majander A, Caporali L, Starace V, Amore G, Renzo AD, Carbonelli M, Nucci P, Jurkute N, Chen BS, Panebianco R, De Negri AM, Sadun F, Parisi V, Bandello F, Sadun AA, Carelli V, Yu-Wai-Man P.

Am J Ophthalmol. 2022 Dec 18;249:99-107. doi: 10.1016/j.ajo.2022.12.014. 

2. Indirect Comparison of Lenadogene Nolparvovec Gene Therapy Versus Natural History in Patients with Leber Hereditary Optic Neuropathy Carrying the m.11778G>A MT-ND4 Mutation.

Carelli V, Newman NJ, Yu-Wai-Man P, Biousse V, Moster ML, Subramanian PS, Vignal-Clermont C, Wang AG, Donahue SP, Leroy BP, Sergott RC, Klopstock T, Sadun AA, Rebolleda Fernández G, Chwalisz BK, Banik R, Girmens JF, La Morgia C, DeBusk AA, Jurkute N, Priglinger C, Karanjia R, Josse C, Salzmann J, Montestruc F, Roux M, Taiel M, Sahel JA; the LHON Study Group.

Ophthalmol Ther. 2023 Feb;12(1):401-429. doi: 10.1007/s40123-022-00611-x. 

3. Visual Outcomes and Optical Coherence Tomography Biomarkers of Vision Improvement in Patients With Leber Hereditary Optic Neuropathy Treated With Idebenone.

Borrelli E, Berni A, Cascavilla ML, Barresi C, Battista M, Lari G, Reibaldi M, Bandello F, Barboni P.

Am J Ophthalmol. 2023 Mar;247:35-41. doi: 10.1016/j.ajo.2022.11.004. 

4. Capturing the Pattern of Transition From Carrier to Affected in Leber Hereditary Optic Neuropathy.

Carbonelli M, La Morgia C, Romagnoli M, Amore G, D’Agati P, Valentino ML, Caporali L, Cascavilla ML, Battista M, Borrelli E, Di Renzo A, Parisi V, Balducci N, Carelli V, Barboni P.

Am J Ophthalmol. 2022 Sep;241:71-79. doi: 10.1016/j.ajo.2022.04.016. 

5. The Pattern of Retinal Ganglion Cell Loss in Wolfram Syndrome is Distinct From Mitochondrial Optic Neuropathies.

Barboni P, Amore G, Cascavilla ML, Battista M, Frontino G, Romagnoli M, Caporali L, Baldoli C, Gramegna LL, Sessagesimi E, Bonfanti R, Romagnoli A, Scotti R, Brambati M, Carbonelli M, Starace V, Fiorini C, Panebianco R, Parisi V, Tonon C, Bandello F, Carelli V, La Morgia C.

Am J Ophthalmol. 2022 Sep;241:206-216. doi: 10.1016/j.ajo.2022.03.019. 

6. Retinal vascular impairment in Wolfram syndrome: an optical coherence tomography angiography study.

Battista M, Cascavilla ML, Grosso D, Borrelli E, Frontino G, Amore G, Carbonelli M, Bonfanti R, Rigamonti A, Barresi C, Viganò C, Tombolini B, Crepaldi A, Montemagni M, La Morgia C, Bandello F, Barboni P.

Sci Rep. 2022 Feb 8;12(1):2103. doi: 10.1038/s41598-022-06150-6.

7. Longitudinal Study of Optic Disk Perfusion and Retinal Structure in Leber’s Hereditary Optic Neuropathy.

Calzetti G, La Morgia C, Cattaneo M, Carta A, Bosello F, Amore G, Carbonelli M, Cascavilla ML, Gandolfi S, Carelli V, Schmetterer L, Scholl HPN, Barboni P.

Invest Ophthalmol Vis Sci. 2022 Jan 3;63(1):43. doi: 10.1167/iovs.63.1.43. 

8. Natural history of patients with Leber hereditary optic neuropathy-results from the REALITY study.

Yu-Wai-Man P, Newman NJ, Carelli V, La Morgia C, Biousse V, Bandello FM, Clermont CV, Campillo LC, Leruez S, Moster ML, Cestari DM, Foroozan R, Sadun A, Karanjia R, Jurkute N, Blouin L, Taiel M, Sahel JA; LHON REALITY Study Group.

Eye (Lond). 2022 Apr;36(4):818-826. doi: 10.1038/s41433-021-01535-9.

 

2021

1. The m.3890G>A/MT-ND1 mtDNA rare pathogenic variant: Expanding clinical and MRI phenotypes.

Vacchiano V, Caporali L, La Morgia C, Carbonelli M, Amore G, Bartolomei I, Cascavilla ML, Barboni P, Lamperti C, Catania A, Chan JW, Karanja R, Sadun AA, Liguori R, Bianchi A, Gavazzi G, Mascalchi M, Salvi F, Carelli V.

Mitochondrion. 2021 Sep;60:142-149. doi: 10.1016/j.mito.2021.08.007. 

2. Accuracy of a Deep Learning System for Classification of Papilledema Severity on Ocular Fundus Photographs.

Vasseneix C, Najjar RP, Xu X, Tang Z, Loo JL, Singhal S, Tow S, Milea L, Ting DSW, Liu Y, Wong TY, Newman NJ, Biousse V, Milea D; BONSAI Group.

Neurology. 2021 Jul 27;97(4):e369-e377. doi: 10.1212/WNL.0000000000012226. 

3. APOSTEL 2.0 Recommendations for Reporting Quantitative Optical Coherence Tomography Studies.

Aytulun A, Cruz-Herranz A, Aktas O, Balcer LJ, Balk L, Barboni P, Blanco AA, Calabresi PA, Costello F, Sanchez-Dalmau B, DeBuc DC, Feltgen N, Finger RP, Frederiksen JL, Frohman E, Frohman T, Garway-Heath D, Gabilondo I, Graves JS, Green AJ, Hartung HP, Havla J, Holz FG, Imitola J, Kenney R, Klistorner A, Knier B, Korn T, Kolbe S, Krämer J, Lagrèze WA, Leocani L, Maier O, Martínez-Lapiscina EH, Meuth S, Outteryck O, Paul F, Petzold A, Pihl-Jensen G, Preiningerova JL, Rebolleda G, Ringelstein M, Saidha S, Schippling S, Schuman JS, Sergott RC, Toosy A, Villoslada P, Wolf S, Yeh EA, Yu-Wai-Man P, Zimmermann HG, Brandt AU, Albrecht P.

Neurology. 2021 Jul 13;97(2):68-79. doi: 10.1212/WNL.0000000000012125. 

4. Brain functional MRI responses to blue light stimulation in Leber’s hereditary optic neuropathy.

Evangelisti S, La Morgia C, Testa C, Manners DN, Brizi L, Bianchini C, Carbonelli M, Barboni P, Sadun AA, Tonon C, Carelli V, Vandewalle G, Lodi R.

Biochem Pharmacol. 2021 Sep;191:114488. doi: 10.1016/j.bcp.2021.114488. 

5. Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy.

Stenton SL, Sheremet NL, Catarino CB, Andreeva NA, Assouline Z, Barboni P, Barel O, Berutti R, Bychkov I, Caporali L, Capristo M, Carbonelli M, Cascavilla ML, Charbel Issa P, Freisinger P, Gerber S, Ghezzi D, Graf E, Heidler J, Hempel M, Heon E, Itkis YS, Javasky E, Kaplan J, Kopajtich R, Kornblum C, Kovacs-Nagy R, Krylova TD, Kunz WS, La Morgia C, Lamperti C, Ludwig C, Malacarne PF, Maresca A, Mayr JA, Meisterknecht J, Nevinitsyna TA, Palombo F, Pode-Shakked B, Shmelkova MS, Strom TM, Tagliavini F, Tzadok M, van der Ven AT, Vignal-Clermont C, Wagner M, Zakharova EY, Zhorzholadze NV, Rozet JM, Carelli V, Tsygankova PG, Klopstock T, Wittig I, Prokisch H.

J Clin Invest. 2021 Mar 15;131(6):e138267. doi: 10.1172/JCI138267.

6. Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset.

Newman NJ, Yu-Wai-Man P, Carelli V, Moster ML, Biousse V, Vignal-Clermont C, Sergott RC, Klopstock T, Sadun AA, Barboni P, DeBusk AA, Girmens JF, Rudolph G, Karanjia R, Taiel M, Blouin L, Smits G, Katz B, Sahel JA; LHON Study Group.

Ophthalmology. 2021 May;128(5):649-660. doi: 10.1016/j.ophtha.2020.12.012.

7. The Use of Anterior-Segment Optical-Coherence Tomography for the Assessment of the Iridocorneal Angle and Its Alterations: Update and Current Evidence.

Triolo G, Barboni P, Savini G, De Gaetano F, Monaco G, David A, Scialdone A.

J Clin Med. 2021 Jan 11;10(2):231. doi: 10.3390/jcm10020231.

8. Therapeutic Options in Hereditary Optic Neuropathies.

Amore G, Romagnoli M, Carbonelli M, Barboni P, Carelli V, La Morgia C.

Drugs. 2021 Jan;81(1):57-86. doi: 10.1007/s40265-020-01428-3.

9. Combined Optic Atrophy and Rod-Cone Dystrophy Expands the RTN4IP1 (Optic Atrophy 10) Phenotype.

Rajabian F, Manitto MP, Palombo F, Caporali L, Grazioli A, Starace V, Arrigo A, Cascavilla ML, La Morgia C, Barboni P, Bandello F, Carelli V, Battaglia Parodi M.

J Neuroophthalmol. 2021 Sep 1;41(3):e290-e292. doi: 10.1097/WNO.0000000000001124.

 10. Peripapillary hyperreflective ovoid mass-like structures (PHOMS): OCTA may reveal new findings.

Borrelli E, Barboni P, Battista M, Sacconi R, Querques L, Cascavilla ML, Bandello F, Querques G.

Eye (Lond). 2021 Feb;35(2):528-531. doi: 10.1038/s41433-020-0890-4. 

 

2020

1. Optic Disc Classification by Deep Learning versus Expert Neuro-Ophthalmologists.

Biousse V, Newman NJ, Najjar RP, Vasseneix C, Xu X, Ting DS, Milea LB, Hwang JM, Kim DH, Yang HK, Hamann S, Chen JJ, Liu Y, Wong TY, Milea D; BONSAI (Brain and Optic Nerve Study with Artificial Intelligence) Study Group.

Ann Neurol. 2020 Oct;88(4):785-795. doi: 10.1002/ana.25839. 

2. Idebenone increases chance of stabilization/recovery of visual acuity in OPA1-dominant optic atrophy.

Romagnoli M, La Morgia C, Carbonelli M, Di Vito L, Amore G, Zenesini C, Cascavilla ML, Barboni P, Carelli V.

Ann Clin Transl Neurol. 2020 Apr;7(4):590-594. doi: 10.1002/acn3.51026. 

3. ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.

Caporali L, Magri S, Legati A, Del Dotto V, Tagliavini F, Balistreri F, Nasca A, La Morgia C, Carbonelli M, Valentino ML, Lamantea E, Baratta S, Schöls L, Schüle R, Barboni P, Cascavilla ML, Maresca A, Capristo M, Ardissone A, Pareyson D, Cammarata G, Melzi L, Zeviani M, Peverelli L, Lamperti C, Marzoli SB, Fang M, Synofzik M, Ghezzi D, Carelli V, Taroni F.

Ann Neurol. 2020 Jul;88(1):18-32. doi: 10.1002/ana.25723. 

4. Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome.

La Morgia C, Maresca A, Amore G, Gramegna LL, Carbonelli M, Scimonelli E, Danese A, Patergnani S, Caporali L, Tagliavini F, Del Dotto V, Capristo M, Sadun F, Barboni P, Savini G, Evangelisti S, Bianchini C, Valentino ML, Liguori R, Tonon C, Giorgi C, Pinton P, Lodi R, Carelli V.

Sci Rep. 2020 Mar 16;10(1):4785. doi: 10.1038/s41598-020-61735-3.

5. Choroidal thickness and the retinal ganglion cell complex in chronic Leber’s hereditary optic neuropathy: a prospective study using swept-source optical coherence tomography.

Darvizeh F, Asanad S, Falavarjani KG, Wu J, Tian JJ, Bandello F, Ross-Cisneros FN, Barboni P, Borrelli E, Sadun AA.

Eye (Lond). 2020 Sep;34(9):1624-1630. doi: 10.1038/s41433-019-0695-5. 

6. SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.

Del Dotto V, Ullah F, Di Meo I, Magini P, Gusic M, Maresca A, Caporali L, Palombo F, Tagliavini F, Baugh EH, Macao B, Szilagyi Z, Peron C, Gustafson MA, Khan K, La Morgia C, Barboni P, Carbonelli M, Valentino ML, Liguori R, Shashi V, Sullivan J, Nagaraj S, El-Dairi M, Iannaccone A, Cutcutache I, Bertini E, Carrozzo R, Emma F, Diomedi-Camassei F, Zanna C, Armstrong M, Page M, Stong N, Boesch S, Kopajtich R, Wortmann S, Sperl W, Davis EE, Copeland WC, Seri M, Falkenberg M, Prokisch H, Katsanis N, Tiranti V, Pippucci T, Carelli V.

J Clin Invest. 2020 Jan 2;130(1):108-125. doi: 10.1172/JCI128514.