Purpose In the era of precision medicine, genomic characterization of blind patients is critical. Here, we evaluate the effects of comprehensive genetic analysis on the etiologic diagnosis of potentially hereditary vision loss and its impact on clinical management. Methods We studied 100 non‐syndromic and syndromic Spanish patients with a clinical diagnosis of blindness caused by alterations on the retina, choroid, vitreous and/or optic nerve. We used a next‐generation sequencing (NGS) panel (OFTALMOgenics™), developed and validated within this study, including up to 362 genes previously associated with these conditions. Results We identified the genetic cause of blindness in 45% of patients (45/100). A total of 28.9% of genetically diagnosed cases (13/45) were syndromic and, of those, in 30.8% (4/13) extraophthalmic features had been overlooked and/or not related to visual impairment before genetic testing, including cases with Mainzer‐Saldino, Bardet‐Biedl, mucolipidosis and MLCRD syndromes. In two additional cases–syndromic blindness had been proposed before, but not specifically diagnosed, and one patient with Heimler syndrome had been misdiagnosed as an Usher case before testing. 33.3% of the genetically diagnosed patients (15/45) had causative variants in genes targeted by clinical trials exploring the curative potential of gene therapy approaches. Conclusion Comprehensive genomic testing provided clinically relevant insights in a large proportion of blind patients, identifying potential therapeutic opportunities or previously undiagnosed syndromes in 42.2% of the genetically diagnosed cases (19/45).

The present study is the first to investigate the potential association of SNPs at MT genes with susceptibility to AMD. We found a significant association of SNP rs28366003 at MT2A gene with susceptibility to the dry form of AMD in a Northern Spanish population.

Purpose: To assess visual outcomes in high myopic eyes with nasal-inferior staphyloma implanted with a pseudophakic trifocal intraocular lens (IOL). Methods: We retrospectively analyzed the visual outcomes of 50 eyes of 45 patients who had cataract surgery after AT LISA trifocal IOL implantation. Twenty-five eyes diagnosed with posterior staphyloma (nasal-inferior, type IV and V), and 25 eyes as long eyes. Uncorrected distance visual acuity (UDVA) and corrected distance visual acuity (CDVA) values were used to assess the efficacy and safety of the surgery. Refraction and defocus curves were also evaluated at 6 months. Results: No intra-or post-operative problems occurred during the 6 months of follow-up. After the surgery, the mean Snellen decimal UDVA ranged from 0.50 to 1.00, and CDVA from 0.60 to 1.00 for both groups. CDVA was 0.91 and 0.74 for the long eye and nasalinferior staphyloma groups, respectively. Efficacy and safety indexes were 1.22 and 1.32 for the long eye, and 1.26 and 1.43 for the nasal-inferior staphyloma group, respectively. All eyes of both groups showed a postoperative spherical equivalent within ±1.00D. The long eye group showed the highest percentage of spherical equivalent between −0.13D and +0.13D (56%) and the nasal-inferior staphyloma group was between −0.51D and −0.14D (40%). Conclusion: The outcomes of the present study show that a trifocal IOL provides good visual acuity in high myopic eyes, being worse for nasal-inferior staphyloma eyes. The degree of tilt of the macular plane is related with the expected visual acuity.

Intravitreal bevacizumab as an adjunctive treatment after photodynamic therapy is a good option for patients with polypoidal choroidal vasculopathy associated with choroidal nevus.