Structural and vascular features in cavitary congenital optic disc anomaly associated with metaphyseal acroscyphodysplasia

2021 ◽  
pp. 112067212199574
Author(s):  
Federica Fossataro ◽  
Luca D’Andrea ◽  
Gilda Cennamo

Purpose: To evaluate the radial peripapillary vascular plexus of a cavitary congenital optic disc anomaly in a young patient with recessive autosomal metaphyseal acroscyphodysplasia using optical coherence tomography angiography (OCTA). Methods: Observational case report. Results: A 17-year-old man, with diagnosis of metaphyseal acroscyphodysplasia was referred to Eye Clinic for fundus examination and multimodal imaging for retinal epithelium hypertrophy in the right eye. Clinical examination showed cup-shaped metaphyses, short stature, hyperthelorism, and telecanthus. An optic disc coloboma was detected in the right eye on fundus examination. Wide field en-face Optical Coherence Tomography (OCT) showed a hyporeflective area corresponding to the right optic disc coloboma. At OCTA examination, the whole papillary region revealed a rarefaction of the vascular network, while the ganglion cell complex’s and retinal fiber layers’ parameters were normal in both eyes. Conclusion: The presence of coloboma disc congenital defect linked to embryological abnormalities during the development process could pave the way for a wider understanding of the pathogenesis of metaphyseal acroscyphodysplasia by increasingly framing it as a systemic disease.

2021 ◽  
Author(s):  
Nora Alyousif ◽  
Abrar K. Alsalamah ◽  
Hassan Aldhibi

Abstract Background: Eales disease primarily affects the peripheral retina. However, posterior involvement can be seen. Macular epiretinal neovascularization is not commonly seen in Eales disease. This report highlights the morphology and origin of macular epiretinal neovascularization (ERN) using multimodal retinal imaging, including optical coherence tomography angiography (OCTA). Results: A 35-year-old man with no history of systemic disorders presented with gradual decrease of vision in his left eye. Fundus examination of his right eye showed peripheral sclerosed blood vessels, neovascularization of the optic disc and elsewhere, and macular ERN. The view of the left fundus was limited by vitreous haemorrhage. Fluorescein angiography (FA), of the right eye showed widespread peripheral capillary nonperfusion and leakage of dye from the retinal neovascularization and macular ERN. Macular Spectral domain optical coherence tomography (SD-OCT) of the right eye showed an epiretinal membrane and the presence of epiretinal neovascular lesions extending above the internal limiting membrane towards the vitreous. Optical coherence tomography angiography (OCTA) showed multiple tiny blood vessels at the macula that arose from the superficial retinal capillary plexuses and extended toward the vitreous. The corresponding B-scan showed flow signal through these vessels and the signal extend above the internal limiting membrane. Systemic work-up was negative except for strongly positive tuberculin skin testing giving the classic diagnosis of Eales disease. Patient was started on empirical anti-tubercular therapy and oral corticosteroids. Scatter laser photocoagulation was applied to nonperfused retinal zones. Despite adequate scatter laser ablation, the ERN failed to regress fully. Conclusions: Macular ERN can be seen in cases of classic Eales disease. The origin of macular ERN in our case was shown to be from the superficial retinal capillary plexuses. We also noted the slower regression rate of macular ERN as compared to the major neovascularizations of the optic disc and peripheral retina. Further research is needed to establish the pathogenesis of ERN and its optimal management.


2018 ◽  
Vol 9 (3) ◽  
pp. 504-509
Author(s):  
Helena Dens ◽  
Ingele Casteels

We describe a 7-year-old girl who developed exudation nasally to the right optic disc due to retinal arteriovenous malformation. Fluorescein angiography, spectral domain optical coherence tomography, and optical coherence tomography angiography were performed. We give an overview of the different imaging techniques and discuss the differential diagnosis. Since there was no visual impairment, no treatment was started. A spontaneous decrease in edema and exudation was noted after 6 months.


2021 ◽  
Vol 14 (1) ◽  
pp. e235452
Author(s):  
Sarah Schimansky ◽  
Xia Ni Wu ◽  
Catherine Egan ◽  
Quresh Mohamed

We report the case of a 19-year-old patient with symptomatic unilateral serous maculopathy associated with an optic nerve coloboma. Fluorescein angiography detected a focal late leak at the temporal edge of the coloboma which was later found to correspond with an area of choroidal neovascularisation on optical coherence tomography angiography. A course of intravitreal ranibizumab achieved good clinical and structural response. This report contributes to the evidence that maculopathies associated with cavitary optic nerve anomalies may in some instances result from choroidal neovascularisation. It also highlights the importance of angiography to identify potential choroidal neovascular membranes, particularly in the absence of haemorrhages and neovascular membranes on fundus examination and conventional optical coherence tomography.


2017 ◽  
Vol 27 (2) ◽  
pp. e32-e34 ◽  
Author(s):  
Andrea Mazzaferro ◽  
Adriano Carnevali ◽  
Ilaria Zucchiatti ◽  
Lea Querques ◽  
Francesco Bandello ◽  
...  

Purpose To evaluate the optical coherence tomography angiography (OCT-A) features of a peripapillary intrachoroidal cavitation (ICC) in a patient with high myopia. Methods A 67-year-old woman with ICC underwent visual acuity testing, refraction, slit-lamp biomicroscopy, dilated fundus examination, and OCT-A. The main findings are described in this case report. Results Best-corrected visual acuity was 20/20 in both eyes. Fundus examination revealed in the right eye a macular scar, a tilted disc along with a peripapillary staphyloma, and an orange-yellowish lesion on the inferior border of the disc. Structural OCT B-scan showed ICC as an intrachoroidal hyporeflective space located below the normal plane of the retinal pigment epithelium adjacent to the optic nerve head. Optical coherence tomography angiography showed the cavitation as a hyporeflective area, devoid of detectable flow from the choriocapillaris and large choroidal vessels layers, suggesting the choroid, including the residual hyperreflective tissue in the outer aspect of the retinal pigment epithelium/Bruch membrane, to be avascular in ICC. Conclusions Optical coherence tomography angiography demonstrated the absence of choroidal and choriocapillary network.


PLoS ONE ◽  
2021 ◽  
Vol 16 (2) ◽  
pp. e0247670
Author(s):  
Abinaya Priya Venkataraman ◽  
Josefine Andersson ◽  
Lina Fivelsdal ◽  
Maria Nilsson ◽  
Alberto Domínguez-Vicent

Purpose To evaluate the intradevice repeatability and agreement for peripapillary retinal nerve fiber layer (pRNFL) measurements in healthy eyes with two different scan directions and two different number of B scans. Methods pRNFL was measured with a spectral domain optical coherence tomography on 54 healthy participants. Three-dimensional optic disc scans (6 mm x 6 mm) were performed on the right eye of the participants. Two repeated scans were performed in four different settings: H1: Horizontal scan with 512 A-scans x 96 B-scans; H2: Horizontal scan with 512 A-scans x 128 B-scans; V1: Vertical scan with 512 A-scans x 96 B-scans; V2: Vertical scan with 512 A-scans x 128 B-scans. The pRNFL thickness was evaluated in twelve clock-hour sector in a circle of 3.45 mm diameter centred at the optic disc. Repeatability and agreement were assessed with within subject standard deviation (Sw) and Bland-Altman test respectively. Results The repeatability of pRNFL measurements varied depending on the scan direction and sectors. The repeatability for the horizontal sectors were better with H1 and H2, with sector 9 having the best Sw (< 3 μm). The repeatability for the vertical sectors were better with V1 and V2 with sector 5 and 9 having the best Sw (< 4 μm). The repeatability with vertical scan was more symmetric among the sectors than with horizontal scans. The repeatability metrics of the sectors did not vary much between H1 and H2 (difference < 2 μm) and between V1 and V2 (difference < 3.2 μm). Comparing horizontal and vertical scans, the vertical sectors had larger limits of agreement of about 45 μm. Conclusion The reliability of the pRNFL thickness measurements is dependent on the direction of the scan and independent on the numbers of B-scans. Vertical scans for pRNFL gives more homogeneous repeatability across the different sectors.


2018 ◽  
Vol 49 (1) ◽  
pp. 52-54 ◽  
Author(s):  
Ismini Koulouri ◽  
Eric D. Gaier ◽  
Dean Eliott ◽  
Demetrios G. Vavvas

Sign in / Sign up

Export Citation Format

Share Document