Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome.

Retinal arterial macroaneurysms with supravalvular pulmonic stenosis (RAMSVPS), also known as Familial Retinal Arterial Macroaneurysms (FRAM) syndrome, is a very rare multisystem disorder. Here, we present a case series comprising ophthalmologic and systemic evaluation of patients homozygous for RAMSVPS syndrome causative IGFBP7 variant. New clinical details on 22 previously published and 8 previously unpublished patients are described. Age at first presentation ranged from 1 to 34 years. The classical feature of macroaneurysms and vascular beading involving the retinal arteries was universal. Follow up extending up to 14 years after initial diagnosis revealed recurrent episodes of bleeding and leakage from macroaneurysms in 55% and 59% of patients, respectively. The majority of patients who underwent echocardiography (18/23) showed evidence of heart involvement, most characteristically pulmonary (valvular or supravalvular) stenosis, often requiring surgical correction (12/18). Four patients died in the course of the study from complications of pulmonary stenosis, cerebral hemorrhage, and cardiac complications. Liver involvement (usually cirrhosis) was observed in eight patients. Cerebral vascular involvement was observed in one patient, and stroke was observed in two. We conclude that RAMSVPS is a recognizable syndrome characterized by a high burden of ocular and systemic morbidity, and risk of premature death. Recommendations are proposed for early detection and management of these complications.

Three-dimensional locations of ruptured retinal arterial macroaneurysms and their associations with the visual prognosis.

The aim of this retrospective, observational study was to examine the intraretinal locations of ruptured retinal arterial macroaneurysms (RMAs) and investigate the associations with the visual prognosis. Fifty patients (50 eyes) with untreated RMA rupture who visited the Department of Ophthalmology at Kyoto University Hospital (April 2014-July 2019) were included. The intraretinal position of the ruptured RMAs relative to the affected retinal artery was examined using optical coherence tomography (OCT) and color fundus photography (CFP). The relative RMA positions were anterior to (anterior type, 44%), at the same level as (lateral type, 20%), or posterior to (posterior type, 34%) the affected artery. At the initial visit, the posterior type showed greater subretinal hemorrhage thickness than did the lateral and anterior types (P = 0.016 and 0.006, respectively), and poorer visual acuity (VA) than did the anterior type (P = 0.005). At the final visit, the length of the foveal ellipsoid zone band defect was longer (P = 0.005) and VA was poorer (P < 0.001) for the posterior type than for the anterior type. The intraretinal positions of ruptured RMAs vary, affect the thickness of foveal subretinal hemorrhage and predict future damage to the foveal photoreceptors. The visual prognosis may be poor for posteriorly ruptured RMAs.

Multimodal imaging in pediatric arterial macroaneurysm: A case report.

Our aim is to report a case of asymptomatic retinal arterial macroaneurysm in a 9-year-old female patient. She was referred to our Ophthalmology clinic for a routine ophthalmologic examination and, after the detection of a juxtafoveal saccular vascular enlargement in indirect ophthalmoscopy, underwent a multimodal imaging assessment. Optical coherence tomography-angiography and fluorescein angiography were important to determine the nature of the lesion, identified as a congenital retinal arterial macroaneurysm. Retinal vascular abnormalities represent a rare finding in pediatric patients and must be carefully explored to establish the correct diagnosis. A multimodal imaging approach was very useful to thoroughly reach this target. Vascular abnormalities represent a rare finding in pediatric patients and must be carefully explored to establish the correct diagnosis. A multimodal imaging approach is very useful to study in deep the reported arterial macroaneurysm in a non-invasive way.

Retinal arterial macroaneurysm associated with macular pucker.

PURPOSE: To describe a case of retinal arterial macroaneurysm associated with macular pucker with good response to subthreshold laser treatment. PRESENTATION: Two-year follow-up of a patient with decreased vision in one eye for the past 6 months. Baseline best-corrected visual acuity was 20/40 in the affected eye. Multiple retinal arterial macroaneurysms were diagnosed on biomicroscopy fundus examination, with the presence of subretinal fluid and hard exudates on macula. Multimodal imaging including optical coherence tomography and fluorescein angiography confirmed the diagnosis and presence of macular pucker, which complicated the treatment choice. The largest retinal arterial macroaneurysm was treated 2 days after the diagnosis by means of subthreshold micropulse laser using an infrared diode laser with 1400 mW power, 200 ms exposure and 10% duty cycle. RESULTS: Five months after the treatment, despite absorption of subretinal fluid, there were increased hard exudates at the posterior pole and best-corrected visual acuity was unchanged. Progressively, the exudates were absorbed and vision improved. Eighteen months after the treatment, best-corrected visual acuity was 20/25. Hard exudates were almost completely reabsorbed, with no evidence of fluid. Macular pucker was unchanged, with no retinal traction or complications related to conventional laser treatment. CONCLUSION: Subthreshold laser treatment could be the treatment of choice in complicated cases of retinal arterial macroaneurysm with macular pucker, as it is able to modify the vessel permeability, without any thermal negative effect.