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Investigative Ophthalmology & Visual Science|June 25, 2010
Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomographyAlberta A H J Thiadens, Ville Somervuo, L Ingeborgh van den Born, et al.
Audiology & Neuro-Otology|December 17, 2003
A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluationAnne M L C Bischoff, Mirjam W J Luijendijk, Patrick L M Huygen, et al.
HGG Advances|May 31, 2024
Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patientsRoberta Zeuli, Marianthi Karali, Suzanne E de Bruijn, et al.
Lancet (London, England)|July 18, 2014
Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: an open-label phase 1b trialRobert K Koenekoop, Ruifang Sui, Juliana Sallum, et al.
International Journal of Molecular Sciences|March 6, 2021
Clinical Phenotype of <i>PDE6B</i>-Associated Retinitis PigmentosaLaura Kuehlewein, Ditta Zobor, Katarina Stingl, et al.
HGG Advances|April 19, 2025
Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophiesDalila Capasso, Roberta Zeuli, Gavin Arno, et al.
JAMA Ophthalmology|May 17, 2014
Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1Anna M Siemiatkowska, Janneke H M Schuurs-Hoeijmakers, Danielle G M Bosch, et al.
Ophthalmology|September 18, 2014
Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophySusanne Roosing, L Ingeborgh van den Born, Riccardo Sangermano, et al.
American Journal of Human Genetics|November 4, 2008
Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosaRob W J Collin, Karin W Littink, B Jeroen Klevering, et al.
Ophthalmology|May 8, 2012
A homozygous frameshift mutation in LRAT causes retinitis punctata albescensKarin W Littink, Maria M van Genderen, Mary J van Schooneveld, et al.
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