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Purpose: To describe congenital stationary night blindness (CSNB) with a negative electroretinogram, hypoplastic discs, nystagmus and thinning of the inner nuclear layer (INL). Methods:Retinal structure was analyzed qualitatively with spectral domain optical coherence tomography and wide field imaging. Retinal function was evaluated with full-field electroretinography (ffERG). Molecular genetic testing included next-generation sequencing (NGS) of the known genes involved in CSNB.Results: Patients presented with CSNB presented with nystagmus, high myopia, hypoplastic discs and negative ffERG with no measurable rod response. The retinas appeared normal and automated segmentation of retinal layers demonstrated a relative reduction of thickness of the INL. There was no significant change in the ffERG after prolonged 2 hour dark adaptation compared to standard 30 minute dark adaptation. Affec ted family members harboured the homozygous 1-bp deletion c.2394delC in exon 18 of the TRPM1 gene, whereas their unaffected parents were heterozygous carriers. Conclusions:This data expands the genotype and phenotype spectrum of CSNB. The lack of improvement of rod responses after prolonged dark adaptation, together with thinning of the INL, is compatible with postreceptoral transmission dysfunction in the bipolar cells. Such knowledge may prove useful in future development of treatment for outer retinal dystrophies, using opsin genes to restore light responses in survivor neurons in the inner retina.

Background To describe the outcomes of patients with retinitis pigmentosa (RP) who received the Argus II Retinal Prosthesis System. Methods This retrospective, interventional case series evaluated 10 consecutive patients who received the Argus II retinal implant and underwent visual function tests with the system on and system off. The main outcome measures were safety (the number, seriousness, and relatedness of adverse events), and visual function measured by computer-based objective tests, including square localization (SL) and direction of motion (DOM). Secondary measures included functional vision performance, including orientation and mobility (O&M) tasks. Results There were no intraoperative complications and all prostheses remained implanted at the end of follow up. The mean patient age was 41.3 years; mean duration of the implant in vivo was 2.1 years. One patient had a suture exposure over the coil suture tab and over the inferior case suture tab at 2 years postoperatively, which was managed successfully. One patient developed mild vitreous hemorrhage that resolved spontaneously. One patient developed high intraocular pressure postoperatively due to a tight scleral band (SB) that was managed successfully. Patients performed significantly better with the Argus II system on than off on all tasks. Conclusion Patients who received the Argus II had a safety profile out to 4 years post-implantation that was markedly better than that observed in the pre-approval phase of the Argus II. In this population of RP patients, the Argus II retinal prosthesis provided useful visual function over several years that likely translates into improved quality of life. Trial Registration: clinicaltrials.gov identifier, NCT00407602.