Multimodal imaging of foveoschisis and macular pseudohole associated with gyrate atrophy: a family report

Abstract

BackgroundTo report the results of multimodal imaging of a biochemically confirmed case of a family with gyrate atrophy (GA) associated with foveoschisis and macular pseudohole.Case presentationTwo sisters presented to us with progressive bilateral decreased vision. The 26-year old sister had a best corrected visual acuity (BCVA) of 20/32 in the right eye (RE) and 20/100 in the left eye (LE). Dilated fundus examination revealed multiple bilateral chorioretinal atrophy areas in the midperipheral and peripheral retina. Fluorescein angiography did not show any leak in the macular area. Swept-source optical coherence tomography (SS-OCT) showed increased central macular thickness in both eyes with foveoschisis. Optical coherence tomography angiography (OCTA) showed petaloid non-reflective areas and some perifoveal microvascular alterations similar to telangiectasias in the deep capillary complex. The 30-year-old sister had a BCVA of 20/20 in the RE and 20/32 in the LE. SS-OCT was normal in the RE and demonstrated a macular pseudohole with a fine epiretinal membrane in the LE. The persistent retinal tissue at the base of the pseudohole was disorganised. Blood tests showed hyperornithinemia in the 2 cases. Based on these observations, the patients were diagnosed with gyrate atrophy of the choroid and retina and were treated with a pyridoxine supplement and an arginine-restricted diet.ConclusionsFoveoschisis and macular pseudohole may be associated in GA, increasing the risk of rapid vision loss. OCTA is an interesting imaging tool that can help to better understand the pathophysiological mechanism of these macular involvements in GA.

Retinoschisis in Coats Disease: Clinical Picture, Therapeutic Considerations, and Management Outcomes

“…16 For far advanced disease, PPV with silicone oil tamponade has been shown to be effective in maintaining or achieving good visual outcomes. 13,[17][18][19] Retinoschisis or macrocyst associated with Coats disease has been described earlier. One patient in the cohort was reported previously by our group, 12 and Berinstein et al described 2 cases of peripheral and central schisis but did not comment on the interval change in the clinical features during its management.…”

“…Therefore, it is thought that leakage, hypoxia, and toxicity to the retinal pigment epithelial cells likely play a role in cavity development. 13 Our clinical series follows 18 patients with clinical and photographic diagnoses of Coats disease with acquired retinoschisis. Our study supports the idea that treatment of the abnormal vasculature may lead to resolution of the schisis, and therefore vascular leakage and exudation may play a role in its development.…”

Partial regression of foveoschisis following vitamin B6 supplementary therapy for gyrate atrophy in a Chinese girl

“…The current literature on the treatment of foveoschisis in GA is scarce. Zhioua Braham et al reported a 26-year-old female affected by GA with foveoschisis which showed poor response to arginine-restricted diet and vitamin B6 supplementation (300 mg/day) treatment for 6 months [ 7 ]. For our patient, foveoschisis showed partial regression after 3 weeks’ high-dose vitamin B6 treatment without an arginine-restricted diet, but the plasma ornithine levels and BCVA remained unchanged.…”

“…Macular involvement has been reported including cystoid macular edema (CME), epimacular membrane, macular hole, choroidal neovascularization and foveoschisis [ 3 , 4 ]. Foveoschisis is rare in GA with only three cases reported previously [ 5 – 7 ].…”

Letter to the editor regarding: “cystoid macular edema secondary to gyrate atrophy in a child treated with sub-tenon injection of triamcinolone acetonide”

“…This was the first report describing the use of bevacizumab to treat this condition. The pathogenesis of CME associated with GA is still unknown, however, new data from optical coherence tomography angiography suggest that retinal ischemia and vascular alterations may play a role, and indicate that anti vascular endothelial growth factor agents, such as bevacizumab, could be useful [ 2 , 3 ]. Previously, intravitreal triamcinolone acetonide has been shown to improve CME associated with GA [ 4 ].…”