Dystrophy

Inherited causes of combined vision and hearing loss: clinical features and molecular genetics
Thales Antonio Cabral de Guimaraes, Elizabeth Arram, Ahmed F Shakarchi, Michalis Georgiou, Michel Michaelides

British Journal of Ophthalmology Sep 2022, bjophthalmol-2022-321790; DOI: 10.1136/bjo-2022-321790
North Carolina macular dystrophy shows a particular drusen phenotype and atrophy progression
Johannes Birtel, Martin Gliem, Philipp Herrmann, Christine Neuhaus, Frank G Holz, Robert E MacLaren, Hendrik P N Scholl, Peter Charbel Issa

British Journal of Ophthalmology Sep 2022, 106 (9) 1269-1273; DOI: 10.1136/bjophthalmol-2021-318815
Novel disease-causing variant in RDH12 presenting with autosomal dominant retinitis pigmentosa
Manickam Nick Muthiah, Angelos Kalitzeos, Kate Oprych, Navjit Singh, Michalis Georgiou, Genevieve Ann Wright, Anthony G Robson, Gavin Arno, Kamron Khan, Michel Michaelides

British Journal of Ophthalmology Sep 2022, 106 (9) 1274-1281; DOI: 10.1136/bjophthalmol-2020-318034
Prediction of visual impairment in retinitis pigmentosa using deep learning and multimodal fundus images
Tin Yan Alvin Liu, Carlthan Ling, Leo Hahn, Craig K Jones, Camiel JF Boon, Mandeep S Singh

British Journal of Ophthalmology Jul 2022, bjophthalmol-2021-320897; DOI: 10.1136/bjo-2021-320897
Cost-effectiveness analysis of preloaded versus non-preloaded Descemet membrane endothelial keratoplasty for the treatment of Fuchs endothelial corneal dystrophy in an academic centre
Myriam Böhm, Pia Leon, Adam Wylęgała, Stephan Ong Tone, Tracy Condron, Ula Jurkunas

British Journal of Ophthalmology Jul 2022, 106 (7) 914-922; DOI: 10.1136/bjophthalmol-2020-317536
Spatial and temporal resolution of the photoreceptors rescue dynamics after treatment with voretigene neparvovec
Krunoslav Stingl, Melanie Kempf, Karl U Bartz-Schmidt, Spyridon Dimopoulos, Felix Reichel, Ronja Jung, Carina Kelbsch, Susanne Kohl, Friederike Charlotte Kortüm, Fadi Nasser, Tobias Peters, Barbara Wilhelm, Bernd Wissinger, Fabian Wozar, Eberhart Zrenner, M Dominik Fischer, Katarina Stingl

British Journal of Ophthalmology Jun 2022, 106 (6) 831-838; DOI: 10.1136/bjophthalmol-2020-318286
CRB1-associated retinal dystrophies in a Belgian cohort: genetic characteristics and long-term clinical follow-up
Mays Talib, Caroline Van Cauwenbergh, Julie De Zaeytijd, David Van Wynsberghe, Elfride De Baere, Camiel J F Boon, Bart Peter Leroy

British Journal of Ophthalmology May 2022, 106 (5) 696-704; DOI: 10.1136/bjophthalmol-2020-316781
Leber congenital amaurosis/early-onset severe retinal dystrophy: current management and clinical trials
Malena Daich Varela, Thales Antonio Cabral de Guimaraes, Michalis Georgiou, Michel Michaelides

British Journal of Ophthalmology Apr 2022, 106 (4) 445-451; DOI: 10.1136/bjophthalmol-2020-318483
Multimodal imaging in subclinical best vitelliform macular dystrophy
Maurizio Battaglia Parodi, Alessandro Arrigo, Alessandro Calamuneri, Emanuela Aragona, Francesco Bandello

British Journal of Ophthalmology Apr 2022, 106 (4) 564-567; DOI: 10.1136/bjophthalmol-2020-317635
Inner retinal thickening affects microperimetry thresholds in the presence of photoreceptor thinning in patients with RPGR retinitis pigmentosa
Jasleen Kaur Jolly, Moreno Menghini, Piers A Johal, Thomas M W Buckley, Holly Bridge, Robert E Maclaren

British Journal of Ophthalmology Feb 2022, 106 (2) 256-261; DOI: 10.1136/bjophthalmol-2020-317692

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