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Preoperative fundus photograph and swept-source optical coherence tomography images of the patient shown in Figure 4. (A) Preoperative fundus photograph showing retinoschisis and localized retinal detachment with epiretinal membrane superior to the vascular arcade; (B) swept-source optical coherence tomography image shows retinoschisis and an outer retinal hole (arrow) in conjunction with an epiretinal membrane (arrowhead).
Source publication
Optical coherence tomography has evolved over the past 2 decades to be an important ancillary method to evaluate diseases of the anterior and posterior segments of the eye. The more recent development of swept-source optical coherence tomography (SS-OCT) with a wavelength-tunable laser centered at 1050 nm and deeper imaging depth of 2.6 mm has enab...
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Background:
Renal coloboma syndrome (RCS) is characterized by renal anomalies and optic nerve colobomas. PAX2 mutations contribute to RCS. However, approximately half of the patients with RCS have no mutation in PAX2 gene.
Methods:
To investigate the incidence and effects of mutations of PAX2 and 25 candidate genes, patient genes were screened u...
Optic disc pit and disc coloboma are common congenital anomalies. Both have been known to be associated with an orbital cyst. We report a case of a 6 month-old child who presented with unilateral progressive proptosis. Imaging investigations revealed a well-defined, intraconal, orbital cyst located close to the posterior surface of the globe displa...
Background:
Pseudoduplication of the optic disc is a rare clinical condition that is characterized by a circumscribed, disc-like lesion with radiating vessels but only one normal optic nerve. We report a rare case that initially resembled a bifurcated optic nerve in a strabismus child.
Case presentation:
A 6-year-old female child was initially r...
Citations
... If the ODC is complicated with retinoschisis, this will be visible above the excavation. Moreover, swept source (SS) OCT can detect the presence of herniated retinal tissue into the colobomatous area and the subarachnoid space immediately behind the highly reflective tissue lining, which may be the pia mater [12]. On optical coherence tomography angiography (OCTA), Cennamo and colleagues demonstrated the absence of a radial peripapillary microvascular network in ODC as a result of imperfect closure of the embryonic fessure [3]. ...
In this comprehensive review, we delve into the significance of multimodal imaging in diagnosing and managing complications of congenital optic disc anomalies. While the fundus examination is the gold standard tool in the diagnosis of these pathologies, spectral domain (SD) optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA) could shed light on the pathogenesis and treatment. Moreover, this review seeks to offer a comprehensive insight into the multimodal approach of these rare congenital pathologies. In conclusion, congenital anomalies of the optic nerve represent a major challenge for ophthalmologists. Further research could be useful to clarify the pathophysiology of these diseases and define a correct and more specific treatment approach.
... If the ODC is complicated with retinoschisis, this will be visible above the excavation. Moreover, SS-OCT can detect the presence of herniated retinal tissue into the colobomatous area and the subarachnoid space immediately behind the highly reflective tissue lining, which may be the pia mater [11]. On OCTA, Cennamo and colleagues demonstrated the absence of a radial peripapillary microvascular network in ODC result of imperfect closure of the embryonic fessure [3]. ...
In this comprehensive review, we delve into the significance of the mul-timodal imaging in diagnosing and managing of complications of congenital optic nerve anomalies.. While the Fundus examination is the gold standard tool in diagnosisc of these pathologies, SD OCT and OCTA could shed a light in the pathogenesis, and treatment. Moreover , this review seeks to offer a comprehensive insight into a multimodal approach of these rare congenital pathologies. In conclusion, congenital anomalies of the optic nerve represent a major challenge for ophthalmologists Further research could be clarify the pathophysiology of these diseases and define a correct and specific treatment approach. Keywords: keyword 1; ODC, ODP, MGS, OCT; OCTA, Multimodal imaging.
... The high-resolution images obtained are comparable to histological images in vivo. The new generation swept-source optical coherence tomography (SS-OCT) has an imaging depth of 2.6 mm allowing detailed examination of the choroid and sclera [12]. SS-OCT shows that the precortical vitreous cortex is connected to the bottom of the optic disc pit (Figure 7). ...
An optic disc pit (ODP) is a congenital anomaly of the optic disc. This disorder may cause no symptoms and be diagnosed incidentally. However, in 25–50% of cases, it is accompanied by maculopathy causing a permanent reduction in visual acuity. Optical coherence tomography is a non-invasive technique that allows detailed diagnosis and monitoring the progression of the pathology mentioned above. In ODP complicated by maculopathy, OCT visualises exudative macular detachment with the dissection of the inner retinal layers followed by detachment of the outer retinal layers. It can also reveal complications such as full-thickness macular hole and subretinal haemorrhage, which also reduce visual acuity in patients with ODP.
... Patients usually present with decreased vision, strabismus, or nystagmus. 3 Moyamoya disease is an idiopathic cerebrovascular disease characterized by progressive stenotic changes at the distal portion of the ICA, proximal middle cerebral artery (MCA), and anterior cerebral artery (ACA). On angiography, the collateral arterial network resembles a puff of smoke which means "moyamoya" in Japanese. ...
Purpose
We report a case of a 10-year-old with Moring glory disc anomaly (MGDA) associated with Moyamoya disease and pituitary stalk duplication.
Observations
A 10-year-old Asian child presented with decreased vision in the right eye and bilateral nystagmus. Both dilated fundus exam and magnetic resonance imaging (MRI) of the orbit confirmed MGDA of the right eye. MRI of the brain demonstrated duplication of the pituitary stalk. Magnetic resonance angiography (MRA) of the brain revealed bilateral severe narrowing (greater on the right side) of the distal supraclinoid internal carotid arteries with bilateral reconstitution at the carotid terminus and prominent collaterals, suggestive of Moyamoya disease.
Conclusions
Patients with MGDA should undergo neuroimaging due to the associated central nervous system (CNS) anomalies.
... It has been reported that approximately 1/3 of those with MGS can develop RD, and a small number of cases have spontaneous resolution [3] . The development process of RD may result from various factors, mainly abnormal communications between the subarachnoid space and subretinal space or retinal breaks, which contribute to the migration of cerebrospinal fluid or vitreous humor to the subretinal space and the traction of preretinal glial tissues [4][5] . In the literature, the treatment of advanced RD in MGS is challenging. ...
Aim:
To determine the anatomic and visual outcomes of prophylactic juxtapapillary laser photocoagulation treatment alone in the prevention of retinal detachment (RD) in a cohort of pediatric patients diagnosed with morning glory syndrome (MGS).
Methods:
A total of 24 eyes of 22 consecutive patients aged 0-15y diagnosed with MGS treated with prophylactic juxtapapillary laser photocoagulation alone were reviewed. Data including demographics, ocular examination, anatomic and visual outcomes, following treatment and complications were collected.
Results:
Two patients had bilateral laser treatment and 20 had monocular laser treatment. The age at treatment of 13 (59.1%) patients was less than 12mo. The presenting symptoms included strabismus (6/22, 27.3%), decreased vision (2/22, 9.1%), and routine fundus screening (14/22, 63.6%). Fifteen (68.2%) patients underwent cranial magnetic resonance imaging (MRI) examinations, and 3 of those 15 (20.0%) had abnormal findings in the nervous system. Based on preoperative wide-field fundus photography and B-scan echography, all (100.0%) eyes had no obvious RD. On postoperative 1mo and 6mo and the following follow-ups, the anatomic outcomes of all eyes remained stable. The mean follow-up duration was 27.7±17.5mo. No severe complications were found. Preoperative visual acuity acquired from 2 (9.1%) patients ranged from light perception to 20/200. Postoperative acuity acquired from 11 (50.0%) patients ranged from light perception to 20/125.
Conclusion:
The preliminary anatomic and visual outcomes of prophylactic juxtapapillary laser treatment alone in pediatric MGS patients are relatively stable in a short-term follow-up. Further long-term clinical observation will be needed to confirm its efficacy and safety.
... 83 Morning glory disc anomaly (MGDA) is characterized by a funnel-shaped excavation of the optic nerve head, peripapillary atrophy, and retinal vessels emerging from the disc edge in an abnormal radial pattern. 87 Using OCT analysis of a case of isolated MGDA, Srinivasan et al 88 showed an enlarged optic cup and disc with increased retinal nerve fiber layer thickness temporally and reduced macular thickness. Saraswat et al 89 similarly reported an enlarged optic cup and disc with RNFL thinning in a patient with MGDA, however macular thickness was normal. ...
Optic nerve cupping or enlargement of the cup-to-disc ratio is widely recognized as a feature of glaucoma, however it may also occur in non-glaucomatous optic neuropathies. The most well-recognized non-glaucomatous optic neuropathies that cause cupping include compressive optic neuropathies, arteritic anterior ischemic optic neuropathies, hereditary optic neuropathies, and optic neuritis. Cupping is thought to consist of two main components: prelaminar and laminar thinning. The former is a shallow form of cupping and related to loss of retinal ganglion cells, whereas the latter involves damage to the lamina cribrosa and peripapillary scleral connective tissue. Differentiating glaucomatous and non-glaucomatous optic nerve cupping remains challenging even for experienced observers. Classically, the optic nerve in non-glaucomatous causes has pallor of the neuroretinal rim, but the optic nerve should not be examined in isolation. The patient’s medical history, history of presenting illness, visual function (visual acuity, color vision and visual field testing) and ocular examination also need to be considered. Ancillary testing such as optical coherence tomography of the retinal nerve fiber layer and ganglion cell layer-inner plexiform layer may also be helpful in localizing the disease. In this review, we review the non-glaucomatous causes of cupping and provide an approach to evaluating a patient that presents with an enlarged cup-to-disc ratio.Keywords: optic disc cupping, misdiagnosis of glaucoma, nonglaucomatous cupping, differential diagnosis of glaucoma, optic disc pallor
... Postulated mechanisms of RD in MGDA include abnormal communication between the subarachnoid space and the subretinal space, tissue stretching around the peripapillary conus, and breaks at the margin of excavation or in the tissues lying within the optic disc. [26,31,32] RD s in MGDA have a variable course, including spontaneous reattachment and even redetachment. [30] Spontaneous reattachment is more likely to occur in the absence of vitreous or glial tissue causing traction on the retina within the defect or if a retinal break is absent. ...
Purpose:
Reports of morning glory disc anomaly (MGDA) in India have mostly been case reports. The aim of this study was to describe the demographic and clinical profile of patients with MGDA in South India.
Materials and methods:
A retrospective review of the medical records of patients with MGDA seen at a tertiary eye hospital in South India over a period of 8 years was carried out. The patients' demographic and clinical data were extracted from the case files and were entered into Epi Info reporting software version 7.2.3.0 and then analyzed.
Results:
There were 51 eyes of 44 patients with MGDA comprised 25 (56.8%) males and 19 (43.2%) females. Seven (15.9%) patients had bilateral MGDA. The mean age for females was 5.8 years (standard deviation [SD]: 5.8) and for males, 11.2 years (SD: 12.1). This difference was not statistically significant with a P = 0.07. The most common ocular associations were strabismus, refractive error, and retinal detachment, whereas the most common systemic associations were cleft lip and cleft palate. Fifty-one percent of eyes were blind at presentation.
Conclusion:
Patients with MGDA in India tend to present late with poor visual prognosis. Early diagnosis and prompt treatment of blinding complications are crucial in reducing the risk of irreversible visual loss. Associated systemic abnormalities highlight the importance of a multidisciplinary approach in the management of patients with this condition.
... In 1 / 3rd of the cases, the pit is loca lized in the ONH center. In most cases (60%), the pits are gray, and in some cases, they are yellow (30%) CLINICAL CASE / КЛИНИЧЕСКИЙ СЛУЧАЙ 78 or black (10%) [1][2][3][4][5]. The detailed pathogenesis of optic disk pit formation remains unclear. ...
The optic disc pit is a congenital anomaly, presenting as a round or oval depression in the optic disc, 0.10.7 disc diameters in size, located mainly along its lower-temporal margin. Approximately in 45-75% of the eyes with congenital optic disc pit a serous detachment of neuroepithelium (NED) in the macular area develops, which could become a cause for an erroneous diagnosis of an intraocular tumor. The article presents a clinical case of the optic disc pit, which required a differential diagnosis with an intraocular tumor. It is shown that OCT signs of the optic disc pit are: the connection of optic disc structures with the subretinal space, as well as the presence of signs of invagination of the retinal nerve fiber layer in the optic disc structures.
... [11,17] The retinal complications associated with congenital optic disc anomalies including MGDA are treated by vitreous surgery, silicone oil tamponade, and peripapillary laser photocoagulation or scleral buckling. [18] Subretinal fluid and retinoschisis may take up to 12 months to resolve following successful surgery. [11] Surgical outcomes are, however, limited and not entirely satisfactory. ...
... [11] Surgical outcomes are, however, limited and not entirely satisfactory. [18] Three of the four eyes with RD in this series had vitrectomy with two eyes achieving anatomical reattachment. In contrast, other authors reported successful reattachment of the retina in 100% of eyes that had surgery. ...
... El OCT spectralis (SS-OCT) es una nueva generación de OCT con alta penetración tanto en tejido coroideo como escleral, pues utiliza una larga longitud de onda de 1 050 nm con una profundidad de penetración de 2,6 mm, que es capaz de examinar estructuras o lesiones de 1 mm y evaluar el espacio retrobulbar subaracnoideo, las estructuras vasculares dentro de la esclera posterior, la cavidad intracoroidea peripapilar, la grasa orbitaria en ojos con alta miopía, así como las microestructuras a nivel de la lámina cribosa de ojos glaucomatosos. [17][18][19][20] La tomografía de coherencia óptica como método de obtención de imágenes complementario ha sido indispensable para obtener la evidencia clínica de áreas de squisis que conectan directamente con la foseta y preceden o no al desprendimiento de las capas de retina externa. Se observa no solo un desprendimiento seroso macular, sino también la separación de las capas internas de la retina; incluso, se ha demostrado la presencia de fibras de vítreo ancladas al interior de la foseta. ...
... Además, su uso ha demostrado la afectación en la capa de fibras nerviosas en el cuadrante correspondiente a la foseta papilar, así como la presencia de edema retinal de capas internas con degeneración quística sobre un desprendimiento más central y un área hiporreflectiva que correspondería a los bordes de la foseta papilar donde existe la comunicación con la squisis. 4,[17][18][19][20][21][22][23][24][25] Constituye un importante método diagnóstico y un seguimiento en consulta y posquirúrgico. ...
Papillary pit is a rare congenital anomaly that is part of the congenital optic disc anomaly spectrum. It deals with intrapapillary invaginations that may be located at the border of the optic disc. Most of them is located at temporal level, around 20% are located centrally followed by upper, lower and nasal pits. Bilateral pits are estimated to be 10-15% and their incidence has been set at 0.19%. They are asymptomatic although 50% of cases suffer macular damage due to the passing of fluid from the papillary pit to the different retinal layers, which affecgs in a secondary way the visual acuity and thus it is the reason to go to the ophthalmologist. Multiple therapeutic alternatives for the treatment of papillary pit-associated serous retinal detachments have been described but none of them has predominated over the others. The treatment of this disease consists of closing the communication between the pit and the subretinal space with several therapeutic options such as laser photocoagulation, pneumoretinopexia, posterior scleral indentation, optic nerve fenestration, vitrectomy or any combination of the above-mentioned methods.
