To describe the natural history, genetic landscape, and phenotypic spectrum of Eyes shut homolog (EYS)-associated retinal degeneration (EYS-RD). Retrospective, single-center cohort study complemented by a cross-sectional examination. Patients with biallelic EYS variants were recruited at an inherited RD referral center in Portugal. Every patient underwent a cross-sectional examination comprising a comprehensive ophthalmic examination including best-corrected visual acuity (BCVA), dilated slit-lamp anterior segment, and fundus biomicroscopy; ultrawide-field color fundus photography and fundus autofluorescence imaging; and spectral domain-OCT. In the setting of a retinitis pigmentosa (RP) diagnosis, every patient was classified as typical or atypical RP according to imaging criteria. Baseline demographics, age at onset of symptoms, family history, history of consanguinity, symptoms, age at diagnosis, BCVA at baseline and throughout follow-up, and EYS variants were collected from each individual patient file. Clinical/demographic, genetic, multimodal imaging data, and BCVA variation were compared between typical and atypical RP. Additionally, BCVA variation during follow-up was used as an endpoint to describe EYS-RD natural history. Fifty-eight patients (59% men; mean age 52 ± 14 years) from 48 White families of Portuguese ancestry were included. Twenty distinct EYS variants were identified, 8 of which are novel. In 32.8% of patients, onset of symptoms was in early adulthood (21-30 years). A clinical diagnosis of RP was established in 57 patients and cone-rod dystrophy in 1 patient. Regarding RP, 75.0% of the patients were graded as typical and 25.0% as atypical. Atypical EYS-RP commonly presents with inferior crescent-shaped macular atrophy with superior midperipheral sparing. In EYS-RD, a negative correlation was found between age and BCVA (r = -0.50; P < 0.001), with an average loss of 1.45 letters per year. When stratifying for RP phenotype, lower average loss of letters per year (P < 0.001), higher BCVA (P < 0.001), and larger ellipsoid zone widths (P < 0.001) were found in atypical RP. This study expands the genetic spectrum of EYS-RD by reporting 8 novel variants. A high frequency of atypical phenotypes was identified. These patients have better BCVA and larger ellipsoidal zone widths, thus presenting an overall better prognosis. Proprietary or commercial disclosure may be found after the references.

Purpose: To evaluate prediction accuracy of formulas included in the ESCRS online intraocular lens (IOL) calculator using standard keratometry (K) or total keratometry (TK). Setting: Hospital-based academic practice. Design: Retrospective case-series. Methods: 523 patients with cataract (523 eyes) were included in this study. The outcome measures were trimmed means of the spherical equivalent prediction error (SEQ-PE, trueness), precision and absolute SEQ-PE (accuracy) of all 7 formulas available on the ESCRS online IOL calculator, as well as mean (Mean-All) and median (Median-All) of the predicted SEQ refraction of all formulas. Subgroup analyses evaluated the effect of axial length on formula accuracy. Results: Trimmed-mean SEQ-PE range of all formulas varied from −0.075 to +0.071 diopters (D) for K-based and from −0.003 to +0.147 D for TK-based calculations, with TK-based being more hyperopic in all formulas (P < .001). Precision ranged from 0.210 to 0.244 D for both K-based and TK-based calculations. Absolute SEQ-PE ranged from 0.211 to 0.239 D for K-based and from 0.218 to 0.255 D for TK-based calculations. All formulas, including Mean-All and Median-All, showed high accuracy, with 84% to 90% of eyes having SEQ-PEs within 0.50 D. Myopic trimmed-mean SEQ-PEs significantly different from zero were observed in long eyes for Pearl DGS (−0.110 D, P = .005), Hill RBF (−0.120 D, P < .001), and Hoffer QST (−0.143 D, P = .001) and in short eyes for EVO 2.0 (−0.252 D, P = .001), Kane (−0.264 D, P = .001), Hoffer QST (−0.302 D, P < .001), Mean-All (−0.122 D, P = .038), and Median-All (−0.125 D, P = .043). Conclusions: Prediction accuracy of all ESCRS IOL calculator formulas was high and globally comparable. TK-based calculations did not increase prediction accuracy and tended toward hyperopia. Observations indicating formula superiority in long and short eyes merit further evaluation.

Alport syndrome is a rare condition characterized by the clinical triad of nephritic syndrome, sensorineural deafness, and ophthalmological alterations. Herein, we present a rare case of a patient diagnosed with Alport syndrome and bilateral giant macular holes. A 40-year-old woman with a previously unreported mutation in the COL4A4 gene suggestive of autosomal-recessive Alport syndrome presented at our department. The patient exhibited bilateral full-thickness macular holes measuring >1500 µm at their smallest diameters. The very large dimensions of both macular holes were indicative of a bad prognosis regarding hole closure, and a conservative approach was adopted. The patient was maintained on renal substitution therapy, and genetic counseling was offered to other family members. Ophthalmological findings associated to Alport syndrome commonly include anterior lenticonus and dot-and-fleck retinopathy, although giant macular holes can also be associated with this condition. A multidisciplinary approach is crucial in the management of these patients, as Alport syndrome is an inherited systemic basement membrane disease.

Purpose of review: To showcase the majority of online intraocular lens (IOL) calculation tools and highlight some of their characteristics.Recent findings: Online tools are available for preoperative and postoperative IOL-related calculations, including IOL power and toricity selection for standard patients, patients who underwent prior refractive surgery, keratoconus, limbal relaxing incisions for astigmatism management, realignment of a misplaced or rotated toric IOL, surgical induced astigmatism (SIA), formulae comparison, and other tools.Summary: As there are new online developments and technology is advancing rapidly, we hope that this review will assist ophthalmologists in becoming acquainted with a large variety of online tools.

Chronic relapsing inflammatory optic neuropathy (CRION) is a type of idiopathic recurrent optic neuritis that responds to systemic corticosteroids and relapses on steroid withdrawal or dose reduction. Central serous chorioretinopathy (CSCR) is often associated with glucocorticoid therapy. This paper aims to highlight CSCR as a cause of visual loss in patients being treated with corticosteroids for optic neuritis. We describe the case of a 42-year-old woman with a history of CRION in her left eye who presented with painful vision loss in the right eye and diffuse right optic disc edema. Steroid therapy was initiated, leading to visual and perimetric improvement. Two months later however, the patient returned with painless visual loss, now related to CSCR. Despite oral steroids being continued, there was spontaneous tomographic and visual recovery after four months. We believe this is the first report of CSCR causing vision loss in a patient with CRION treated with oral corticosteroids. CSCR should be suspected in patients with optic neuritis of any cause who develop vision loss while on treatment with steroids.