Dystrophy

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 May 2021, bjophthalmol-2020-318034; DOI: 10.1136/bjophthalmol-2020-318034
Artificial intelligence for diagnosis of inherited retinal disease: an exciting opportunity and one step forward
Tien-En Tan, Hwei Wuen Chan, Mandeep Singh, Tien Yin Wong, Jose S Pulido, Michel Michaelides, Elliott H Sohn, Daniel Ting

British Journal of Ophthalmology May 2021, bjophthalmol-2021-319365; DOI: 10.1136/bjophthalmol-2021-319365
Structural evaluation in inherited retinal diseases
Malena Daich Varela, Burak Esener, Shaima A Hashem, Thales Antonio Cabral de Guimaraes, Michalis Georgiou, Michel Michaelides

British Journal of Ophthalmology May 2021, bjophthalmol-2021-319228; DOI: 10.1136/bjophthalmol-2021-319228
Reduced vessel density in deep capillary plexus correlates with retinal layer thickness in choroideremia
Alessandro Arrigo, Francesco Romano, Maurizio Battaglia Parodi, Peter Charbel Issa, Johannes Birtel, Francesco Bandello, Robert E Maclaren

British Journal of Ophthalmology May 2021, 105 (5) 687-693; DOI: 10.1136/bjophthalmol-2020-316528
Autosomal recessive congenital hereditary corneal dystrophy associated with a novel SLC4A11 mutation in two consanguineous Tunisian families
Zohra Chibani, Imen Zone Abid, Peter Söderkvist, Jamel Feki, Mounira Hmani Aifa

British Journal of Ophthalmology Apr 2021, bjophthalmol-2020-318204; DOI: 10.1136/bjophthalmol-2020-318204
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 Mar 2021, bjophthalmol-2021-318815; DOI: 10.1136/bjophthalmol-2021-318815
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 Mar 2021, bjophthalmol-2020-318483; DOI: 10.1136/bjophthalmol-2020-318483
Rebubbling and graft failure in Descemet membrane endothelial keratoplasty: a prospective Dutch registry study
Suryan Dunker, Bjorn Winkens, Frank van den Biggelaar, Rudy Nuijts, Pieter Jan Kruit, Mor Dickman

British Journal of Ophthalmology Feb 2021, bjophthalmol-2020-317041; DOI: 10.1136/bjophthalmol-2020-317041
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 Feb 2021, bjophthalmol-2020-317536; DOI: 10.1136/bjophthalmol-2020-317536
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 Feb 2021, bjophthalmol-2020-316781; DOI: 10.1136/bjophthalmol-2020-316781

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