ObjectiveTo describe the pattern of fundus autofluorescence (FAF) in Bietti’s crystalline dystrophy (BCD).Methods and analysisFrom the National Institutes of Health EyeGene database of 2769 patients with known pathogenic mutations, 5 patients with BCD-causing CYP4V2 mutations who had FAF images were selected. Demographic and genetic information and imaging files were obtained. From the FAF imaging files, unique autofluorescence (AF) patterns and correlation with retinal structures were assessed by three investigators for clinical significance.ResultsFive patients (four males, one female; mean age 56 years, range 42–76 years) were included, all with different CYP4V2 mutations. All patients displayed varying degrees of hypo-AF in the posterior pole. In four out of five patients, there was a relative hyper-AF of choroidal vessels within the hypo-AF area; this feature was limited to sclerotic vessels only. A transitional zone of speckled AF was visible around the hypo-AF area. This zone corresponded to the area containing retinal crystals on colour fundus photography; however, retinal crystals did not demonstrate hyper or hypo-AF.ConclusionsThis study presents a previously unreported characteristic finding in patients with BCD with CYP4V2 mutations. AF of choroidal vessels may aid in differentiating BCD from other retinal dystrophies.

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Human studies have established that short periods of dark adaptation can induce outer retinal thinning and various band intensity changes that can be detected with Optical Coherence Tomography (OCT). Similar findings were observed in mice, including a positive correlation between the degree of outer retinal changes and dark adaptation duration. We decided to assess potential retinal structural changes following prolonged dark adaptation in humans. 40 healthy subjects without any ocular diseases participated in this study. For each subject, one eye was covered for dark adaptation for four hours, and the other eye was left uncovered as a control. Before and after the dark adaptation period, both eyes were assessed with OCT. Using the Heidelberg Spectralis system, basic statistical functions, and qualitative and quantitative analysis, we were able to compare retinal layer thicknesses and band intensities between covered (dark adapted) versus uncovered (control) eyes. Prolonged dark adaptation did not induce any significant thickness, volume, or intensity changes in the outer retina or in the inner or overall retina. These observations thus alter our current understanding of the mechanisms underlying dark adaptation’s neuroprotective effects in preventing blindness and require further study.

Background: Vogt-Koyanagi-Harada-like (VKH) syndrome or electronegative electroretinograms (ERG) have both been described before or after immunotherapy for metastatic cutaneous melanoma, but they have not been described occurring together. Objective: The objective of this study is to describe a case of VKH-like syndrome occurring simultaneously with an electronegative ERG after nivolumab therapy for metastatic cutaneous melanoma. Methods: Case report of a patient with ocular findings after nivolumab therapy for metastatic melanoma was reported. Multimodal imaging, including color fundus photography, optical coherence tomography (OCT), and both full-field and multifocal ERGs were used to describe the findings. Literature review was conducted with PubMed. Results: We reported a case of a patient with nivolumab-treated melanoma presenting with presumed VKH-like syndrome with panuveitis, choroidal depigmentation, and cutaneous vitiligo, as well as melanoma-associated retinopathy (MAR)-like electronegative ERG findings. Nivolumab was stopped and corticosteroid therapy was initiated. Although the patient’s visual acuity remained severely limited, her inflammation resolved, and the areas of choroidal depigmentation slowly decreased over years of subsequent follow-up. Conclusion: Vision loss accompanied by simultaneous VKH-like findings with choroidal vitiligo and a MAR-like electronegative ERG may develop after nivolumab therapy. The uveitic and vitiligo may improve with immunosuppressive therapy, but the vision loss and ERG findings may persist.