Analysis of patient referrals from primary care to ophthalmology. The role of the optometrist.

Purpose: The aim of this study was to characterize the quality of primary care referrals of patients to ophthalmology at the Virgen Macarena Hospital in Seville. This will enable us to optimize ophthalmologic resources and to evaluate the role of the optometrist in improving referrals.

Methods: We performed a retrospective cross-sectional review of 220 ophthalmology consultations referred from primary care to the hospital from March to May 2022.

Advanced glaucoma. Clinical practice guideline.

Objective: To present an update clinical practice guideline that serve as a guide for the detection, evaluation and treatment of adults patients with advanced glaucoma.

Methods: After defining the objectives and scope of the guide, the working group was formed and structured clinical questions were formulated following the PICO (Patient, Intervention, Comparison, Outcomes) format. Once all the existing clinical evidence had been independently evaluated with the AMSTAR 2 (Assessment of Multiple systematic Rewiews) and Cochrane "Risk of bias" tools by at least two reviewers, recommendations were formulated following the Scottish Intercollegiate methodology.

Dissecting the role of EYS in retinal degeneration: clinical and molecular aspects and its implications for future therapy.

Mutations in the EYS gene are one of the major causes of autosomal recessive retinitis pigmentosa. EYS-retinopathy presents a severe clinical phenotype, and patients currently have no therapeutic options. The progress in personalised medicine and gene and cell therapies hold promise for treating this degenerative disease.

Novel mutations and clinical characteristics of autosomal recessive bestrophinopathy in a Spanish patient.

Purpose: To describe the clinical and genetic characteristics (novel mutation in gene) of a Spanish patient with autosomal recessive bestrophinopathy (ARB).

Methods: The detailed ophthalmological examination included best corrected visual acuity (BCVA), color and autofluorescence photography, fluorescein angiography, optical coherence tomography, and electrophysiology tests. A next-generation sequencing (NGS) strategy was applied to the index patient, and then sequenced in an Illumina NextSeq500 system.

Generation of the human iPSC line ESi082-A from a patient with macular dystrophy associated to mutations in the CRB1 gene.

Retinal dystrophies associated to mutations in the CRB1 gene comprise a wide array of clinical presentations. A blood sample from a patient with a family history of CRB1-retinal dystrophy was used to prepare the iPSC line ESi082-A. The genotype of the donor, affected of a perifoveal-bilateral macular dystrophy includes one frameshift deletion and one hypomorphic allele.