Very Large Cystoid Macular Lesions Identified Using Outlier Analysis of Genetically Confirmed Inherited Retinal Disease Cases.

BACKGROUND: Cystoid macular lesions (CML) in inherited retinal diseases (IRDs) can contribute to vision impairment. Studying the morphologic range and outlier presentations of CML may inform clinical associations, mechanistic research, and trial design. Thus, we aim to describe the distribution of optical coherence tomography (OCT) parameters in IRD cases with CML and identify phenotype-genotype associations in very large cystoid macular lesions (VLCML). MATERIALS AND METHODS: This cross-sectional study retrieved clinical information from electronic records from January 2020 to December 2021. VLCML cases were identified using the robust distance (Mahalanobis) of the correlation between central foveal thickness (CFT) and total macular volume (TMV) and a 99.9% probability ellipse. The distribution of OCT parameters was calculated by genotype and phenotype. RESULTS: We included 173 eyes of 103 subjects. The median age was 55.9 (interquartile range [IQR], 37.9, 63.7) and 47.6% (49/103) were females. Patients had disease-causing mutations in 30 genes. The most common genes included USH2A (n = 18), RP1 (n = 12), and ABCA4 (n = 11). Robust distance analysis showed that the prevalence of VLCML was 1.94% (n = 2 patients, 4 eyes). VLCML was seen in cases of NR2E3 (119-2A>C) and BEST1 (1120_1121insG) mutations. The median CFT in cases without VLCML was 269 µm (IQR 209, 318.50) while the median for VLCML cases was 1,490 µm (IQR 1,445.50, 1,548.00) (P < .001). CONCLUSIONS: Subjects with different IRD genotypes may develop VLCMLs. Future studies could consider the range and outlier values of CML foveal thickness when determining inclusion criteria and biostatistical plans for observational and interventional studies.

Prediction of visual impairment in retinitis pigmentosa using deep learning and multimodal fundus images.

BACKGROUND: The efficiency of clinical trials for retinitis pigmentosa (RP) treatment is limited by the screening burden and lack of reliable surrogate markers for functional end points. Automated methods to determine visual acuity (VA) may help address these challenges. We aimed to determine if VA could be estimated using confocal scanning laser ophthalmoscopy (cSLO) imaging and deep learning (DL). METHODS: Snellen corrected VA and cSLO imaging were obtained retrospectively. The Johns Hopkins University (JHU) dataset was used for 10-fold cross-validations and internal testing. The Amsterdam University Medical Centers (AUMC) dataset was used for external independent testing. Both datasets had the same exclusion criteria: visually significant media opacities and images not centred on the central macula. The JHU dataset included patients with RP with and without molecular confirmation. The AUMC dataset only included molecularly confirmed patients with RP. Using transfer learning, three versions of the ResNet-152 neural network were trained: infrared (IR), optical coherence tomography (OCT) and combined image (CI). RESULTS: In internal testing (JHU dataset, 2569 images, 462 eyes, 231 patients), the area under the curve (AUC) for the binary classification task of distinguishing between Snellen VA 20/40 or better and worse than Snellen VA 20/40 was 0.83, 0.87 and 0.85 for IR, OCT and CI, respectively. In external testing (AUMC dataset, 349 images, 166 eyes, 83 patients), the AUC was 0.78, 0.87 and 0.85 for IR, OCT and CI, respectively. CONCLUSIONS: Our algorithm showed robust performance in predicting visual impairment in patients with RP, thus providing proof-of-concept for predicting structure-function correlation based solely on cSLO imaging in patients with RP.

Ehlers-Danlos syndromes and their manifestations in the visual system.

Ehlers-Danlos syndrome (EDS) is a rare, genetically variable, heterogenous group of (currently recognized) thirteen connective tissue disorders characterized by skin hyperextensibility, tissue fragility, and generalized joint hypermobility. In addition to these commonly recognized phenotypes, recent studies have notably highlighted variable ophthalmic features in EDS. In this review, we comprehensively gather and discuss the ocular manifestations of EDS and its thirteen subtypes in the clinical setting.

The Mydriatic Red Eye as the Initial Presentation of Syphilis.

BACKGROUND: Syphilis is a sexually transmitted infection that has been increasing in prevalence since the early 2000s. Ocular involvement occurs in a minority of patients and must be in the differential diagnosis for patients who present with red eye and uveitis. CASE REPORT: A 29-year-old woman presented to the emergency department with a painful, mydriatic red eye. Review of systems revealed a rash as well as a recent genital lesion and, on further questioning, she admitted to a history of intravenous drug use and high-risk sexual activity. Ophthalmology was consulted and the patient was diagnosed with bilateral uveitis. Serologic testing was positive for syphilis, and she was admitted and treated with intravenous penicillin, with resolution of her uveitis. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Red eye is a common ocular symptom in patients presenting to the emergency department. The differential diagnosis of the red eye is broad and can range from benign etiologies, such as conjunctivitis, to life- and sight-threatening conditions, such as endogenous endophthalmitis. Systemic diseases such as syphilis may present with primarily ocular symptoms, and ocular syphilis must be identified and managed appropriately to prevent devastating sequelae.

Complete Anterior Capsule Phimosis following Cataract Surgery in a Patient with a History of Retinopathy of Prematurity, Nystagmus, and a Narrow Angle.

The authors present a case of complete anterior capsule phimosis and vision decline which developed 4 weeks postoperatively in the right eye after uncomplicated cataract surgery. Prior ocular history included retinopathy of prematurity in both eyes, acute angle closure glaucoma in the left eye, prophylactic laser peripheral iridotomy for a narrow angle in the right eye, and nystagmus in both eyes. This condition was addressed by surgically releasing the anterior capsule with microscissors to open the pupillary space which had been completely obscured by the anterior capsule, also causing the haptics of the 1-piece intraocular lens to deform. When cataract surgery was performed on his left eye, the surgeon performed prophylactic relaxing incisions at 4 points on the capsular opening. It is notable that his left eye did not develop anterior capsule phimosis postoperatively.