Background:Cavitary disc anomalies, including optic disc pit (ODP), optic nerve coloboma (ODC), and morning glory disc anomaly (MGDA), are congenital conditions with distinct embryological origins and systemic associations. Hybrid features combining these anomalies are rare, complicating diagnosis and management.Purpose:To describe the clinical spectrum, multimodal imaging characteristics, and management strategies of hybrid cavitary disc anomalies, and to propose a novel classification system based on anatomical and physiological overlap.Methods:This retrospective case series included 22 eyes from 17 patients seen at a tertiary care center over 19 months (June 2023–December 2024). All underwent best-corrected visual acuity (BCVA) and fundus examination, multimodal imaging (color fundus photography and [optical coherence tomography] OCT), and neuroimaging when indicated. Findings were confirmed by a senior consultant with over 20 years of experience. Management tailored to visual prognosis and macular status.Results:The median BCVA was Log MAR 0.30 ± 1.13. Various anomalies include ODP with ODC and retinal choroidal coloboma in 10 eyes (45.5%), ODP with MGDA in 3 eyes (13.6%), ODC with RCC and bridging, coloboma in 3 eyes (13.6%), and ODC with MGDA in 2 eyes (9.1%). ODP with ODC, dual ODP with ODC and RCC, and dual ODP with ODC or RCC in 1 eye were each present in 1 eye (4.5). One patient had bilateral hybrid anomalies with maculopathy. Surgical intervention was required in 4 eyes (18.2%).Conclusion:Hybrid cavitary disc anomalies, including MGDA and ODP, present unique diagnostic and management challenges. This study provides insights into these rare conditions, emphasizing the need for further monitoring and research.

Objectives: Children with congenital anomalies of the posterior segment of the eye are in the process of visual development, and thus, their refractive errors should be detected by cycloplegic refraction testing to prescribe full-correction glasses, if required, and to help their visual acuity develop with growth. This study aimed to review refractive correction in children with congenital ocular fundus anomalies.Methods: A retrospective review was conducted on 18 consecutive children (11 female and seven male children) who were diagnosed with ocular fundus anomalies and followed for 10 years or more by a single ophthalmologist at a referral-based hospital. The age at the initial visit ranged from 10 days after birth to 11 years, with a median of one year and four months, and the age at the last visit ranged from 10 to 32 years, with a median of 15 years. The follow-up periods ranged from 10 to 21 years at a median of 15 years.Results: The diagnoses were familial exudative vitreoretinopathy (FEVR) in eight children, persistent fetal vasculature (PFV) in five, morning glory disc anomaly in two, optic nerve and choroidal coloboma (CHARGE syndrome) in two, and Coats disease in one. Full-correction glasses were prescribed in eight children, while the remaining 10 children did not wear glasses. Among nine children with the uncorrected visual acuity of 1.0 or better in one eye and the visual acuity in the other eye ranging from light perception to 0.01, eight children did not wear glasses, and one child wore glasses with hyperopic correction. The diagnoses in these nine children were PFV in five children, morning glory disc anomaly in two, FEVR in one, and Coats disease in one. In seven children who wore full-correction glasses, the best corrected visual acuity in the better eye ranged from 0.2 to 0.9 at a median of 0.5. In contrast, the visual acuity in the other eye ranged from light perception to 0.1 at a median of 0.03. The diagnoses of these seven children were FEVR in five children and CHARGE syndrome in two. The five children with FEVR showed myopic astigmatism in both eyes, while the two children with CHARGE syndrome showed hyperopic astigmatism in both eyes.Conclusion: Children with unilateral eye anomalies such as PFV and morning glory disc anomaly did not wear glasses since their healthy eyes had good uncorrected visual acuity. In contrast, children with involvement of both eyes in FEVR and CHARGE syndrome wore full-correction glasses. Rough information regarding full-correction glasses in each category would help clinicians cope with rare congenital eye diseases. However, this conclusion is generally applicable to the standard practice of pediatric ophthalmology.

Abstract Morning Glory Disc Anomaly (MGDA) is a congenital optic disc pathology characterized by a funnel-shaped excavation of the optic disc, surrounded by an annulus of chorioretinal pigmentation and radially oriented vessels at the disc margin. It is more commonly unilateral, with a variety of ocular and systemic associations. Microspherophakia is a bilaterally presenting congenital anomaly seen as increased anteroposterior thickness and a reduced equatorial diameter of the lens. We report a rare case with bilateral MGDA and bilateral microspherophakia. The two entities have not been reported together thus far.

Morning Glory Syndrome (MGS) is a rare optic nerve anomaly, typically unilateral, characterized by a funnel-shaped macropapilla with neuroglial remnants at its center, surrounded by an elevated and pigmented chorioretinal ring. This condition may be associated with ocular and systemic abnormalities that can impair vision. A 14-year-old female presented to our clinic with a complaint of reduced vision in her right eye. Following a detailed ophthalmological examination and advanced imaging studies, the patient was diagnosed with Morning Glory Disc Anomaly (MGDA) in her right eye. This case highlights the importance of advanced imaging technologies in both the diagnosis and follow-up of MGS, as well as their role in the early detection of potential complications.

Purpose: To describe a surgical technique utilizing an autologous tenon’s capsule graft, in four cases of complex retinal detachments associated with infantile high myopic macular holes (MH), Morning Glory Syndrome (MGS), and an optic disc pit maculopathy. Methods: Tenon’s capsule was exposed following conjunctival incision, separated from the episcleral tissue, and excised to appropriate sizes. The tenon grafts were then inserted through a sclerotomy and positioned over the MH (2 eyes) and the excavation of the morning glory disc (1 eye), and implanted over the optic disc pit (1 eye) under a small PFCL buble. Silicone oil tamponade was used in all cases. Results: All cases achieved successful retinal reattachment and demonstrated stable integration of the Tenon's capsule grafts over a follow-up of more than 6 months, with no signs of infection or inflammation. Silicone oil was removed in MH cases and the grafts remained stable. Conclusion: Tenon’s capsule transplantation emerges as a promising alternative sealing material in pediatric vitreoretinal surgery, offering potential advantages in terms of availability, stability, and efficacy. Further validation through larger studies across diverse retinal pathologies is warranted to ascertain its broader applicability and impact on visual function.

Multimodal imaging of morning glory disc anomaly: Report of two cases

Morning glory disc (MGD) anomaly is a rare optic disc malformation which is almost always unilateral and often associated with poor visual function. The physiologic cup is replaced by a funnel-shaped depression with overlying core of glial tissue and a juxtapapillary pigmented annulus resembling morning glory flower. We report the case of a 17-year-old male presenting with a MGD maculopathy and its associated characteristics.

Morning glory disc anomaly and irregular optic nerve thickness: an overlooked association.

Morning glory disc anomaly (MGDA) is a rare form of optic disc dysplasia, characterized by an excavated optic disc reminiscent of the tropical morning glory flower. Its prevalence is reported at 2.6 per 100,000 individuals. Typically observed unilaterally and manifesting in childhood, MGDA commonly presents with symptoms such as poor visual acuity, strabismus, or leukocoria. We present a rare case of bilateral MGDA in a 40-year-old Caucasian female exhibiting preserved visual acuity despite notable retinal folds, and a possible correlation with the posterior variety of persistent hyperplastic primary vitreous (PHPV).

Morning glory disc anomaly (MGDA) is a congenital malformation characterized by a funnel-shaped optic disc excavation with radiating vessels and a central glial tuft. Imaging is essential to evaluate associated cephalocele and steno-occlusive vasculopathy. The goal of this study was to assess optic nerve, chiasmatic, and sphenoid bone morphology in MGDA. This retrospective study examined all subjects with funduscopically confirmed MGDA diagnosed and imaged with brain MR imaging between 2008 and 2023. Thirty-two children met inclusion criteria. Ocular involvement was unilateral in 29 subjects and bilateral in 3. Segmental optic nerve enlargement ipsilateral to the MGDA was seen in 21 subjects, with 3 also demonstrating a segmental reduction in the size of the ipsilateral optic nerve. Segmental reduction in the size of the ipsilateral optic nerve was present in 3 additional subjects, one with bilateral MGDA. The optic chiasm appeared asymmetrically thickened in 21 subjects, often with deformity. The optic nerves appeared normal in signal intensity in all subjects, with faint peripheral chiasmatic enhancement in 4 of 20 patients who received contrast. Optic nerve findings were stable in 15 subjects with multiple examinations. A persistent craniopharyngeal canal was identified in 17 subjects with sphenoid cephalocele in 1 and mild inferior pituitary gland displacement in 4. Tubular or nodular nasopharyngeal lesions were seen in 10 subjects. One subject had an off-midline sphenoid bone cleft, midbrain deformity, and abnormal thickening of and enhancement around the left oculomotor nerve; the oculomotor nerve finding was present in 1 additional patient. MGDA often manifests with ipsilateral optic nerve thickening, leading to a potential misdiagnosis as optic glioma. MGDA is also commonly associated with a persistent craniopharyngeal canal with variable pituitary gland and infundibular deformity, cephalocele, and tubular or nodular nasopharyngeal lesions.

Morning glory disc anomaly (MGDA) is a rare congenital ophthalmologic disorder. Historically it has been diagnosed fundoscopically, with little in the literature regarding its imaging findings. The purpose of this study is to further characterize the orbital and associated intracranial magnetic resonance imaging (MRI) findings of MGDA in our tertiary pediatric center. A retrospective review was performed of fundoscopically-diagnosed cases of MGDA, that had been referred for MRI. All MRI studies were scrutinized for orbital and other intracranial abnormalities known to occur in association with MGDA. 18 of 19 cases of MGDA showed three characteristic MRI findings: funnel-shaped morphology of the posterior optic disc, abnormal soft tissue associated with the retrobulbar optic nerve, and effacement of adjacent subarachnoid spaces. The ipsilateral (intraorbital) optic nerve was larger in one patient and smaller in six. The ipsilateral optic chiasm was larger in two patients and smaller in one. This study represents a comprehensive radiological-led investigation into MGDA. It describes the most frequently-encountered MRI findings in MGDA and emphasizes the importance of MRI in this cohort, i.e., in distinguishing MGDA from other posterior globe abnormalities, in assessing the visual pathway, and in screening for associated intracranial abnormalities - skull base/cerebral, vascular, and facial. It hypothesizes neurocristopathy as an underlying cause of MGDA and its associations. Caliber abnormalities of the ipsilateral optic nerve and chiasm are a frequent finding in MGDA. Optic pathway enlargement should not be labeled "glioma". (239/250).

Morning glory disc anomaly (MGDA) is rare, but its fundoscopic findings are well documented in the ophthalmologic literature. It is sporadic, without sexual predisposition, and usually unilateral. Furthermore, it is associated with numerous central nervous system anomalies, including vasculopathy. This case series reports four pediatric patients over a 3-year period in whom ophthalmologic evaluation identified MGDA. Magnetic resonance imaging and magnetic resonance angiography were subsequently performed to assess for associated intracranial vascular anomalies. This report is of significance because it demonstrates the spectrum of intracranial vasculopathy in this rare entity.

Orbital pathologies can be broadly classified as ocular, extra-ocular soft-tissue (non-neoplastic and neoplastic), osseous, and traumatic. In part 1 of this orbital series, the authors will discuss the differential diagnosis and key imaging features of pediatric ocular pathologies. These include congenital and developmental lesions (microphthalmos, anophthalmos, persistent fetal vasculature, coloboma, morning glory disc anomaly, retinopathy of prematurity, Coats disease), optic disc drusen, infective and inflammatory lesions (uveitis, toxocariasis, toxoplasmosis), and ocular neoplasms (retinoblastoma, retinal hamartoma, choroidal melanoma, choroidal nevus). This pictorial review provides a practical approach to the imaging work-up of these anomalies with a focus on ocular US as the first imaging modality and additional use of CT and/or MRI for the evaluation of intracranial abnormalities. The characteristic imaging features of the non-neoplastic mimics of retinoblastoma, such as persistent fetal vasculature and Coats disease, are also highlighted.

Introduction: Moyamoya is a progressive cerebrovascular disease characterized by stenosis of the cerebral arteries in the anterior circulation and less often the posterior circulation. To our knowledge, studies examining the prevalence of basilar artery stenosis do not exist outside of case reports. Methods: We retrospectively examined children with moyamoya followed at a single institution from November 2011 through August 2023. Children with moyamoya and basilar stenosis mentioned in their chart were initially included. A pediatric neurologist reviewed all records and neuroimaging to verify diagnosis of basilar artery stenosis. Results: Out of our cohort of 331 children with moyamoya, 24 (7.2%) children had basilar artery stenosis. In the group of 24 children with moyamoya and basilar artery stenosis 63% were females. The median age at moyamoya diagnosis was 4.8 years (interquartile range [IQR] 2.2,8.3). At time of diagnosis 16 children (67%) had basilar artery stenosis. The median time from diagnosis was 0 years (IQR 0, 1.3). At time of diagnosis all children had anterior circulation stenosis (internal carotid artery, middle cerebral artery and/or anterior cerebral artery), 13 (54%) had posterior cerebral artery stenosis and 6 (25%) had vertebral artery stenosis. Post-operative strokes following revascularization surgery occurred in 8 (33%) out of the 24 children. An associated disorder was found in 11 (46%) including ACTA2, PHACE syndrome, cranial radiation, trisomy 21, sickle cell disease, neurofibromatosis type 1 and morning glory disc. Conclusion: To our knowledge we present the first study to examine prevalence of basilar artery stenosis in a large single center cohort of children with moyamoya. In our cohort 7.2% of children with moyamoya had basilar artery stenosis. A large proportion of children with basilar artery stenosis developed stroke post-operatively. Genetic evaluation may be warranted in children with moyamoya and basilar artery stenosis given that 46% of the children had an associated disorder identified.

Morning glory disc anomaly (MGDA), a congenital abnormality of the optic nerve, may be associated with moyamoya arteriopathy, a cerebrovascular abnormality. In this study, the authors aimed to define the temporal evolution of cerebrovascular arteriopathy in patients with MGDA to characterize a rational strategy for screening and management over time. The records of pediatric neurosurgical patients at two academic institutions were retrospectively reviewed to identify cases of cerebral arteriopathy and MGDA, including radiographic and clinical records documenting patient outcomes of medical and surgical management. Thirteen cases of moyamoya syndrome (MMS) associated with MGDA were identified in 13 children aged 0.6-17 years. The pattern of arteriopathy resembled that of non-MGDA MMS, with predominantly anterior circulation involvement. The arteriopathy lateralized with the MGDA, although 3 patients also had contralateral involvement. The overall group was followed for a median of 3.2 years. Radiological biomarkers of cerebral ischemia were applied to guide surgical decisions, and more than half of the patients (7 of 13) had evidence of stroke or progression on serial imaging. Nine patients underwent revascularization surgery, and 4 were managed medically. Cerebral arteriopathy observed in association with MGDA resembles MMS seen in patients without MGDA and is dynamic, with progression observed over months to years and an associated risk of cerebral ischemia that indicates a role for surgical revascularization. Radiological biomarkers may augment clinical data to identify candidates for revascularization surgery.

Morning glory syndrome is a birth defect that affects the optic nerve of the eye. The morning glory syndrome (MGS) or morning glory disc anomaly was named by Kindler in 1970 because of its resemblance to the morning glory flower. Morning glory syndrome can be associated with midline cranial defects and abnormal carotid circulation. We report the case of a 10-year-old adolescent, who was brought by his parents for a profound bilateral visual acuity decrease since birth. Ophthalmic examination revealed bilateral morning glory syndrome.

Morning glory syndrome is a birth defect that affects the optic nerve of the eye. The Morning Glory Syndrome (MGS) or morning glory disc anomaly was named by Kindler in 1970 because of its resemblance to the morning glory flower.

Abnormalities of the contralateral eye in unilateral congenital anophthalmic or blind microphthalmic patients

Optic disc pits, optic disc coloboma, morning glory disc anomaly, and peripapillary staphyloma are the leading optic disc anomalies with excavation in the disc. These anomalies can be seen together with some syndromes and in this case, can be evaluated as part of the spectrum of the disease. However, when looking at each anomaly in terms of its pathogenesis and embryological origin, a different etiopathogenesis comes to the fore. In addition, ocular/systemic relations with anomalies may differ, and in this case, it is interpreted that each anomaly should be considered as a different disease. In this article, optical disc anomalies with excavation in the disc are discussed and current clinical findings, diagnosis, and treatment are revealed.

PurposeTo report the clinical and echographic features, the prevalence of retinal detachment (RD), and associated visual acuity in a cohort of pediatric patients with morning glory disc anomaly (MGDA).MethodsThis was a retrospective review of 249 pediatric patients with MGDA (271 eyes) seen at the Dept. of Ophthalmology, Xinhua Hospital. Their medical records were reviewed for demographic data and ocular and systemic findings. The maximal depth and width of the cavity were measured using standardized echographic images. The ratios of cavitary depth to axial length, cavitary depth to maximal cavitary width, and the product of cavitary depth and width were calculated and used to indicate the relative size of the excavation. The clinical and echographic findings were correlated with visual acuity and the occurrence of RD of the patient.ResultsThe relative size of the excavation and the presence of RD were positively associated with increased risk of poor vision (p < 0.05). The presence of persistent fetal vasculature was not associated with the risk of RD and poor vision. The ratio of cavitary depth to axial length more than or equal to 0.25 conferred an increased risk of RD (OR, 2.101; 95% CI, 1.469–3.003).ConclusionsClinical and echographic features of MGDA may be used in predicting the risk of RD. Measuring the relative size of excavation via echography may guide the follow-ups and assist in the early diagnosis of RD.