Dystrophy

Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations
Sarah Hull, Graham E Holder, Anthony G Robson, Rajarshi Mukherjee, Michel Michaelides, Andrew R Webster, Anthony T Moore

British Journal of Ophthalmology Nov 2016, 100 (11) 1499-1505; DOI: 10.1136/bjophthalmol-2015-308019
RPGR-associated retinopathy: clinical features, molecular genetics, animal models and therapeutic options
James J L Tee, Alexander J Smith, Alison J Hardcastle, Michel Michaelides

British Journal of Ophthalmology Aug 2016, 100 (8) 1022-1027; DOI: 10.1136/bjophthalmol-2015-307698
Assessment of estimated retinal atrophy progression in Stargardt macular dystrophy using spectral-domain optical coherence tomography
Rupert W Strauss, Beatriz Muñoz, Yulia Wolfson, Raafay Sophie, Emily Fletcher, Millena G Bittencourt, Hendrik P N Scholl

British Journal of Ophthalmology Jul 2016, 100 (7) 956-962; DOI: 10.1136/bjophthalmol-2015-307035
Novel morphological macular findings in juvenile CLN3 disease
S Dulz, L Wagenfeld, M Nickel, G Richard, R Schwartz, U Bartsch, A Kohlschütter, A Schulz

British Journal of Ophthalmology Jun 2016, 100 (6) 824-828; DOI: 10.1136/bjophthalmol-2015-307320
The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy
Inam N Bifari, Sahar M Elkhamary, Hanno J Bolz, Arif O Khan

British Journal of Ophthalmology Jun 2016, 100 (6) 829-833; DOI: 10.1136/bjophthalmol-2015-307555
C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium
Arif O Khan, Tobias Eisenberger, Kerstin Nagel-Wolfrum, Uwe Wolfrum, Hanno J Bolz

British Journal of Ophthalmology Dec 2015, 99 (12) 1725-1731; DOI: 10.1136/bjophthalmol-2015-307277
Comparison of primary graft survival following penetrating keratoplasty and Descemet's stripping endothelial keratoplasty in eyes with prior trabeculectomy
Shawn M Iverson, Oriel Spierer, George C Papachristou, William J Feuer, Wei Shi, David S Greenfield, Terrence P O'Brien

British Journal of Ophthalmology Nov 2015, 99 (11) 1477-1482; DOI: 10.1136/bjophthalmol-2014-306547
Mutation analysis of BEST1 in Japanese patients with Best's vitelliform macular dystrophy
Satoshi Katagiri, Takaaki Hayashi, Yasuhiro Ohkuma, Tetsuju Sekiryu, Tomokazu Takeuchi, Tamaki Gekka, Mineo Kondo, Takeshi Iwata, Hiroshi Tsuneoka

British Journal of Ophthalmology Nov 2015, 99 (11) 1577-1582; DOI: 10.1136/bjophthalmol-2015-306830
Spontaneous long-term course of persistent peripheral graft detachments after Descemet’s membrane endothelial keratoplasty
Franziska Bucher, Deniz Hos, Stephan Müller-Schwefe, Philipp Steven, Claus Cursiefen, Ludwig M Heindl

British Journal of Ophthalmology Jun 2015, 99 (6) 768-772; DOI: 10.1136/bjophthalmol-2014-305562
A TULP1 founder mutation, p.Gln301*, underlies a recognisable congenital rod–cone dystrophy phenotype on the Arabian Peninsula
Arif O Khan, Carsten Bergmann, Tobias Eisenberger, Hanno J Bolz

British Journal of Ophthalmology Apr 2015, 99 (4) 488-492; DOI: 10.1136/bjophthalmol-2014-305836

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