Hemorrhagic unilateral retinopathy: a report of multimodal imaging in three cases.

PURPOSE: To report three cases of hemorrhagic unilateral retinopathy, diagnosed by multimodal imaging. METHODS: Case report of 3 patients, 2 women and one man, aged 51, 74, and 52, respectively. RESULTS: Symptoms were acute floaters, blurred vision, or central scotoma, unilateral in all cases. The best-corrected visual acuity was 20/20 in the affected eye in 2 patients with a paracentral scotoma, and 20/160 in the third patient. Funduscopic examination revealed multiple unilateral posterior hemorrhages located in the Henle fiber layer in the macula and beneath the internal limiting membrane around the optic disc on spectral-domain optical coherence tomography (SD-OCT). Fluorescein angiography and indocyanine green angiography (ICGA) did not show any vascular abnormalities. SD-OCT angiography (SD-OCT-A) did not show any capillary drop-out or choroidal abnormalities. In all patients, the visual symptoms completely disappeared within a few weeks, with spontaneous regression of the hemorrhages. CONCLUSION: Hemorrhagic unilateral retinopathy is a rarely reported and poorly understood disorder. ICGA and SD-OCT-A did not allow better understanding the condition. No etiology has been associated with this entity so far. The spontaneous resolution of the present cases confirmed the favorable visual prognosis of the condition.

An incipient late-onset retinal degeneration with a C1QTNF5 mutation: a case report with an 11-year follow-up.

PURPOSE: The purpose of this study was to describe and diagnose the difficulty in a long-term follow-up (eleven years) patient with a very early presentation of late-onset retinal degeneration (L-ORD) and the significance of electrophysiological examinations and follow-up in assessing undiagnosed inherited retinal diseases. METHODS: This is an observational case report of a 56-year-old woman, with scattered multiple yellow-white retinal dots firstly diagnosed as fundus albipunctatus. Ten years after presentation, a deterioration in rod and cone responses in ff-ERG was detected, which allowed us to discard the first diagnostic hypothesis and proceed with a genetic testing. RESULTS: Ten years after presentation, she presented a clear progression of the abnormal photoreceptor response with a cone and rod involvement in ff-ERG, which was not compatible with the previous suspicion of fundus albipunctatus. Six months later, genetic testing results together with the typical progression of atrophic patchy lesions in multimodal imaging allowed a certain diagnosis of L-ORD, caused by an already reported pathogenic variant in the C1QTNF5 gene (c.563C > T; p. Pro188 Leu). CONCLUSIONS: We demonstrate the importance of the ff-ERG examination and the follow-up (or ERG and imaging repetition) in the differential diagnosis of an incipient L-ORD, which can be easily misdiagnosed in the early stages, before the appearance of the characteristic chorioretinal atrophy seen with the progression of this rare disease.

Long-Term Resolution of Perifoveal Exudative Vascular Anomalous Complex after Intravitreal Injections of Anti-Vascular Endothelial Growth Factor.

Perifoveal exudative vascular anomalous complex (PEVAC) is a perifoveal aneurysmal vascular lesion found in healthy subjects. A 68-year-old woman was diagnosed with a typical unilateral and unifocal PEVAC lesion after extensive multimodal imaging and was treated with three-monthly intravitreal injections of ranibizumab. An immediate and complete resolution of the intraretinal fluid was observed. Visual acuity returned to 20/20 without any recurrence of the exudative signs along the 5 years of follow-up. Therefore, an initial anti-VEGF treatment with three-monthly intravitreal injections may be considered as a first-line treatment in PEVAC lesions and may result in long-term preservation of visual acuity.

Bilateral Macular Hole Related to Tamoxifen Low-Dose Toxicity.

Bilateral macular hole is a rare secondary effect of tamoxifen, a condition which is probably underdiagnosed. We describe the case of a 63-year-old woman who had received low-dose treatment with tamoxifen for 10 years. She presented with a best-corrected visual acuity of 20/40 in both eyes and bilateral macular hole with posterior hyaloid attachment. No reflective deposits were observed. A 23-gauge pars plana vitrectomy with internal limiting membrane peeling and gas tamponade was performed in the right eye with no anatomical or functional improvement. The most accepted mechanism of macular hole related to tamoxifen is Müller cell toxicity with retinal tissue loss. Therefore, it seems that the standard procedure used in idiopathic macular hole is not the optimal choice, due to a different pathogenic mechanism.