Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.

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.

Implantation of a Trifocal Intraocular Lens in High Myopic Eyes with Nasal-Inferior Staphyloma.

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.

Intravitreal bevacizumab associated with photodynamic therapy in a case of polypoidal choroidal vasculopathy associated with choroidal nevus: A case report.

Rationale: Report the clinical findings and management of a case of polypoidal choroidal vasculopathy associated with choroidal nevus which received combination therapy.

Patient Concerns: Decreased visual acuity in a woman with polypoidal choroidal vasculopathy and choroidal nevus.

Diagnoses: Polypoidal choroidal vasculopathy and choroidal nevus.

Metallothionein polymorphisms in a Northern Spanish population with neovascular and dry forms of age-related macular degeneration.

Background: To elucidate the potential role of single nucleotide polymorphisms (SNPs) in the metallothionein (MT) genes in Northern Spanish patients with age-related macular degeneration (AMD).

Methods: A total of 130 unrelated Northern Spanish natives diagnosed with AMD (46 dry, 35 neovascular, and 49 mixed) and 96 healthy controls, matched by age and ethnicity, were enrolled in a case-control study. DNA was isolated from peripheral blood and genotyped for 14 SNPs located at 5 MT genes (MT1A: rs11076161, rs 11640851, rs8052394, and rs7196890; MT1B: rs8052334, rs964372, and rs7191779; MT1M: rs2270836 and rs9936741; MT2A: rs28366003, rs1610216, rs10636, and rs1580833; MT3: rs45570941) using TaqMan probes.