Enlightening new underpinnings in hydration retinal folds.

PURPOSE: To describe and value a peculiar alteration typically found in rhegmatogenous retinal detachment raising news foundations of its role in the photoreceptors and visual prognosis. DESIGN: Case description and rationale formulation. SUBJECTS: An isolated case. INTERVENTION: We report a case of a 52-year-old male patient complaining of sudden visual acuity (VA) loss in the left eye. Fundoscopic findings revealed rhegmatogenous retinal detachment, macula off, and an isolated horseshoe tear in the infero-temporal periphery. Spectral-domain optical coherence tomography (SD-OCT) evinced prominent hydration retinal folds. MAIN OUTCOME MEASURES: Restructuring of the retinal layers, visual acuity and complaints. RESULTS: The patient underwent scleral buckling surgery with complete re-attachment of the retina and significant improvement of the hydration retinal folds. In addition, there was resolution of visual symptoms, with a final VA of 20/30. CONCLUSIONS: We speculate that the increase in arc length of the outer retina generates a centripetal force towards the fovea. Its association with the higher density of photoreceptors in this region, generates resistance in the water inflow, preventing swelling and cellular damage of the central photoreceptors.

A patient with X-linked retinoschisis and exudative retinal detachment associated with a pathogenic hemizygous variant c.304c>T in RS1.

BACKGROUND: X-linked retinoschisis (XLRS) is a rare retinal dystrophy due to pathogenic variants in the RS1 gene. The hallmark of the disease is a foveal spoke-wheel appearance. The purpose of this report is to expand the phenotypic spectrum of XLRS reporting a patient with atypical phenotype of XLRS associated with Coats-like phenotype. MATERIALS AND METHODS: This is a case report of a patient diagnosed with XLRS who underwent ophthalmologic multimodal imaging and next-generation sequencing panel. RESULTS: The proband is a 14-year-old male patient who presented at Instituto Suel Abujamra with a history of Coats Disease in the right eye treated with retinal laser in both eyes two years ago. His best-corrected visual acuity was count finger at 1 foot in the right eye and 20/40 in the left eye. Fundus exam showed an extensive area of exudation and retinal detachment in the right eye and cystic change at the fovea in a spoke-wheel pattern in the left eye. The next-generation sequencing panel targeting inherited retinal diseases with 236 genes found a pathogenic hemizygous variant c.304C>T (p.Arg102Trp) in RS1 that has already been reported. CONCLUSIONS: The association of peripheral vascular incompetence and XLRS has already been described. Retinal exudation in the setting of XLRS is probably the result of vascular disruption and compromise. The loss of retinoschisin function that leads to foveal retinoschisis may also lead to vascular anomalies.