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Purpose: To describe the retinal phenotype of an unusual case of anti-TRPM1 autoantibody-positive unilateral melanoma-associated retinopathy (MAR) triggered by nivolumab therapy and compare with the phenotype of TRPM1 -associated Congenital Stationary Night Blindness ( TRPM1 -CSNB)., Observations: Unilateral MAR was diagnosed 3 months after starting nivolumab therapy for consolidation of a successfully treated melanoma. Retinal autoantibodies against TRPM1 were identified. ffERG, microperimetry and static chromatic perimetry confirmed unilateral ON-Bipolar Cell (ON-BPC) dysfunction and central rod sensitivity losses in the left eye; the contralateral eye was normal. There was borderline ganglion cell (GCL) and inner nuclear layer (INL) thinning, but a significantly thinner inner plexiform layer (IPL) in the affected compared to the unaffected eye. Longitudinal reflectivity profiles (LRPs) demonstrated an abnormal inner plexiform layer (IPL) lamination in the involved eye. Nearly identical changes were documented in two cases of TRMP1 -cCSNB and in a case of anti-TRPM1 autoantibody-negative MAR. The functional changes partially recovered with discontinuation of the medication without added immunosuppression., Conclusions and Importance: Comparisons between the affected and unaffected eye in this unilateral MAR case revealed inner retinal abnormalities and abnormal lamination of the IPL associated with the classical retina-wide ON-BPC dysfunction, and localized central rod-mediated sensitivity losses. A nearly identical structural phenotype in two cases of cCSNB and a case of anti-TRPM1 autoantibody-negative MAR supports a specific structural-functional phenotype for these conditions with ON-BPC dysfunction., Competing Interests: The authors have no financial disclosures., (© 2024 The Authors.)

Leber Congenital Amaurosis caused by mutations in LCA5 ( LCA5 -LCA) represents one of the most severe molecular forms of inherited retinal degenerations, even within the LCA disease spectrum. A retina-wide retinal degeneration with preservation of photoreceptors limited to central retina, near the foveal center, is the expected phenotype in various forms of LCA, including LCA5 -LCA. In this report large areas of relatively preserved photoreceptors in the midperipheral and peripheral retina were documented with spectral domain optical coherence tomography and with fundus autofluorescence in a 13-year-old patient with LCA5 -LCA.The findings raise the possibility of relative structural preservation in the peripheral retina in the setting of severe vision in LCA5 -LCA and other molecular forms of LCA, regions that may become additional or alternative regional targets for gene therapies delivered by subretinal injections., Competing Interests: No conflict of interest for any of the authors., (© 2022 The Authors.)