Bilateral congenital macular coloboma: Swept-source optical coherence tomography findings.

A 15-year-old male presented with decreased vision and nystagmus from childhood. Best-corrected visual acuity was limited to 0,05/10 in both eyes. Fundus examination revealed a well-demarcated macular excavation of 2 discs diameter, baring of the underlying sclera, surrounded by a pigmented rim and hypopigmented retinal areas. Autofluorescence images showed a central hypoautofluorescent lesion with patchy hypoautofluorescent areas corresponding to retinal pigmented epithelium (RPE) and photoreceptor atrophy. Swept-source optical coherence tomography showed a crater-like depression with atrophy of the neurosensory retina and the absence of RPE and choroid except some large choroidal vessels. Anti-toxoplasma antibody was negative. These findings are suggestive of a congenital macular coloboma. Similar lesions have to be excluded such as toxoplasmosis macular scar and North Carolina dystrophy.

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

BACKGROUND: To 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 PRESENTATION: Two 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. CONCLUSIONS: Foveoschisis 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.

Atrophic tear retinal detachment: clinical characteristics and surgical treatment results at long term.

AIM: to analyse clinical and epidemiological characteristics of atrophic tear retinal detachment (ATRD) and evaluate anatomical and functional results. METHODS: Retrospective study of 48 cases underwent primary scleral buckling for ATRD. Mean follow up was 80,52 months. RESULTS: ATRD represented 7% of all reghmatogenous RD. Mean age of patients was 38 years and 7 months. Age was less than 40 years in 62,5% of patients. Male predominance was noted. Myopia was noted in 67% of cases and 78,12% presented high myopia. Mean delay of consultation was 7 months ranging from 1 and 60 months. Visual acuity was ranged between light perception to 10/10. The AT number in eye varied between1 to 15 (mean 3 tears). The seat of AT was preferentially in inferior temporal quadrants than superior one. Maculae was detached in 87,5% of cases. All patients underwent scleral buckling: longitudinal buckle was performed in 27% of cases, radial sponge was put on in 8,3% of eyes and circumferential one was made in 64,5% of cases. Sub-retinal fluid was punctured in 75% od cases. Retinal reattachment was obtained in all cases; after one surgery in 95,83% of cases. Redetachment was observed in 2 cases: it was linked with unknown AT. Visual acuity was improved in 83,3% of cases. It was more than 5/10 in 14,6% of cases. Postoperative hypertonia was observed in 18,75% of cases. Choroidal detachment was observed in one case and it was resolved spontaneously. Scleral bukle rejection was observed in one case. CONCLUSION: ATRD was not associated at posterior vitreous detachment. It was observed in young myopic patients. There is a chronic form of retinal detachment with many tears. Scleral buckle was the surgical treatment of this type of RD with good anatomical prognostic.