A modified pediatric ocular trauma score for predicting visual outcome post open globe injury.

PURPOSE: To construct a new pediatric ocular trauma score for predicting visual outcome after open globe injuries (OGI) and to compare it to the ocular trauma score (OTS) and pediatric ocular trauma score (POTS). METHODS: This is a retrospective chart review study. For each case, the following data were collected: demographics, mechanism of the injury, initial ophthalmologic findings, presented and last follow-up visual acuity (VA), ocular treatments, and final ocular findings. We then analyzed the risk factors for the poor visual outcome (VA ≤ 20/200), and a modified pediatric ocular trauma score (MPOTS) was constructed accordingly and compared to the OTS and POTS for predicting poor outcome. Finally, a different cohort of pediatric OGIs was used for score validation. RESULTS: Forty-five cases were included, significant predicting factors for poor visual outcome were initial VA ≤ 20/200, zone 2-3 locations of injury, presence of retinal detachment, vitreous hemorrhage, hyphema, and iris prolapse at initial presentation. The calculated Spearman correlation coefficients between each system score and poor visual outcome were OTS 0.56, POTS 0.57, and MPOTS 0.64 (P < 0.001 for all). A total of 71 new cases were used as validation cohort, and calculated Spearman correlation coefficients between each system score and poor visual outcome were: OTS 0.50, POTS 0.51, and MPOTS 0.53 (P < 0.001 for all). CONCLUSIONS: We suggest a new scoring system for predicting poor final visual outcomes after OGI's in children, which is simpler and more clinically suitable for this study population. It was found to be a better predictor of visual outcome in this scenario compared with existing scoring systems.

THE TARGET SIGN: A Near Infrared Feature and Multimodal Imaging in a Pluri-Ethnic Cohort with RDH5-Related Fundus Albipunctatus.

PURPOSE: Retinol dehydrogenase 5 (RDH5)-related fundus albipunctatus can present with phenotypic variability. Our purpose was to investigate new clinical characteristics and multimodal imaging findings in patients from different ethnic origins, carrying different mutations. METHODS: Multicenter international retrospective case series of 18 patients with genetically confirmed RDH5-related fundus albipunctatus. Patients' files were reviewed for fundus images, visual acuity, macular optical coherence tomography scans, near-infrared images, fundus autofluorescence, electroretinogram, and genetic mutations. Imaging and electroretinogram findings. RESULTS: All eyes (n = 36, 100%) showed small circular findings seen on near-infrared images, termed as the "target sign," correlating to the yellowish dots seen clinically and to the distinct hyperreflective linear lesions on optical coherence tomography at the level between external limiting membrane and retinal pigment epithelium. Perifoveal atrophy with foveal sparing was seen in 4 eyes of 2 patients (both RDH5-c.160C>T, p.R54X mutation). Fundus autofluorescence revealed small hyperautofluorescent dots (n = 16, 44.4%). Scotopic electroretinograms were significantly reduced in all cases with an electronegative pattern, 66.7% displayed cone dysfunction. CONCLUSION: Our results show distinct imaging findings present in all patients with fundus albipunctatus independent of ethnicity or genetic mutation. Our results can facilitate the current algorithm to diagnose RDH5-related fundus albipunctatus and allow for targeted genetic testing.

Bilateral Diffuse Uveal Melanocytic Proliferation in a Woman with Metastatic Scalp Squamous Cell Carcinoma Treated with Cemiplimab.

Bilateral diffuse uveal melanocytic proliferation (BDUMP) is a rare paraneoplastic intraocular syndrome that causes progressive visual loss in patients driven by an IgG factor associated with an underlying malignancy. The IgG factor - cultured melanocyte elongation and proliferation - was found in the IgG fraction of the serum of BDUMP patients. It has been shown to be involved in melanocytic proliferation. In this case report, we describe the first case of BDUMP related to metastatic cutaneous squamous cell carcinoma (cSCC) of the scalp. A 61-year-old woman complained of decreased vision in both of her eyes, while being treated with cemiplimab (an anti-PD-1 therapy) for metastatic cSCC. Fundus examination showed hypopigmented lesions in a leopard pattern and pigmentary clumps in both eyes. Further imaging confirmed the diagnosis of BDUMP. The patient was successfully treated with plasmapheresis. During follow-up, cataract progressed in both eyes, and she underwent cataract surgery with visual acuity improvement to 20/20. BDUMP is a challenging diagnosis especially in patients treated with anti-PD-1 immunotherapy as it can be confused with drug-related effects. It is crucial to distinguish between the cases in order to allow the appropriate treatment which includes continuation of systemic anti-PD-1 for the underlying malignancy and plasmapheresis therapy for BDUMP.