Develop the first normative database of the thickness of every inner retinal layer in the macular area in a healthy, Caucasian population between 18 to 87 years old, using Spectralis Optical Coherence Tomography (OCT). On this transversal, observational study, 300 patients between 18 to 87 years old and without an ophthalmological condition were recruited. Macular OCT scans were performed on all patients (Spectralis OCT, Heidelberg Engineering). An axial length measurement, and keratometry were performed using an optical biometer. The volume and thickness of the different macular sectors of the inner retinal layers (retinal nerve fiber layer (RNFL), ganglion cells layer (CGL) and inner plexiform layer (IPL)) were analyzed with the Spectralis OCT segmentation software. An eye was randomly selected for each patient. 297 patients (179 females and 118 males) were included in the study. The mean age was 56.07 years (range: 40.50–72). The multivariate analysis showed a positive correlation between the RNFL thickness and the axial length (p < 0.001). The mean central retinal thickness was 278.2 μm (range: 266–291), the mean central RNFL thickness was 12.61 μm (range: 11–14), the mean central CGL thickness was 17.63 μm (range: 14–21) and the mean central IPL thickness was 22.02 μm (range: 20–25). The multivariate analysis showed a negative correlation between age and CGL thickness and inner IPL thickness (p< 0.001). This study provides a normative database of the volume of each of the inner retinal layers on a Caucasian population.

Purpose: To study the uncommon causes and treatment options for neovascular glaucoma in children. Patients and Methods: A review of the literature on neovascular glaucoma in children was conducted and we present three cases of neovascular glaucoma in children. Results: We present three cases of neovascular glaucoma: two cases were secondary to a retinal vasoproliferative tumor—one to neurofibromatosis type 1 and the other to exudative retinopathy secondary to mild retinopathy of prematurity—and one case was secondary to a central retina vein occlusion secondary to an optic nerve glioma. Vision in the affected eye was severely impaired in all the children. Conclusion: The diagnosis and treatment of neovascular glaucoma in children is challenging and often a complication of a systemic or late-stage ocular condition. An appropriate diagnosis and estimation of the visual potential are essential to determine the correct treatment, especially in young children.

Background: Congenital aniridia is a complex ocular disorder, usually associated with severe visual impairment, generally caused by mutations on the PAX6 gene. The clinical phenotype of PAX6 mutations is highly variable, making the genotype–phenotype correlations difficult to establish. Methods: we describe the phenotype of eight patients from seven unrelated families with confirmed mutations in PAX6, and very different clinical manifestations. Results: Only two patients had the classical aniridia phenotype while the other two presented with aniridia-related manifestations, such as aniridia-related keratopathy or partial aniridia. Congenital cataracts were the main manifestation in three of the patients in this series. All the patients had nystagmus and low visual acuity. Conclusions: The diagnosis of mild forms of aniridia is challenging, but these patients have a potentially blinding hereditary disease that might present with a more severe phenotype in future generations. Clinicians should be aware of the mild aniridia phenotype and request genetic testing to perform an accurate diagnosis.

Non-syndromic pediatric cataracts are defined as opacification of the crystalline lens that occurs during the first years of life without affecting other organs. Given that this disease is one of the most frequent causes of reversible blindness in childhood, the main objective of this study was to propose new responsible gene candidates that would allow a more targeted genetic approach and expand our genetic knowledge about the disease. We present a whole exome sequencing (WES) study of 20 Spanish families with non-syndromic pediatric cataracts and a previous negative result on an ophthalmology next-generation sequencing panel. After ophthalmological evaluation and collection of peripheral blood samples from these families, WES was performed. We were able to reach a genetic diagnosis in 10% of the families analyzed and found genes that could cause pediatric cataracts in 35% of the cohort. Of the variants found, 18.2% were classified as pathogenic, 9% as likely pathogenic, and 72.8% as variants of uncertain significance. However, we did not find conclusive results in 55% of the families studied, which suggests further studies are needed. The results of this WES study allow us to propose LONP1, ACACA, TRPM1, CLIC5, HSPE1, ODF1, PIKFYVE, and CHMP4A as potential candidates to further investigate for their role in pediatric cataracts, and AQP5 and locus 2q37 as causal genes.

Early-onset high myopia (EoHM) is a disease that causes a spherical refraction error of ≥−6 diopters before 10 years of age, with potential multiple ocular complications. In this article, we report a clinical and genetic study of 43 families with EoHM recruited in our center. A complete ophthalmological evaluation was performed, and a sample of peripheral blood was obtained from proband and family members. DNA was analyzed using a customized next-generation sequencing panel that included 419 genes related to ophthalmological disorders with a suspected genetic cause, and genes related to EoHM pathogenesis. We detected pathogenic and likely pathogenic variants in 23.9% of the families and detected variants of unknown significance in 76.1%. Of these, 5.7% were found in genes related to non-syndromic EoHM, 48.6% in genes associated with inherited retinal dystrophies that can include a syndromic phenotype, and 45.7% in genes that are not directly related to EoHM or retinal dystrophy. We found no candidate genes in 23% of the patients, which suggests that further studies are needed. We propose a systematic genetic analysis for patients with EoHM because it helps with follow-up, prognosis and genetic counseling.