Moyamoya Disease Associated With Morning Glory Disc Anomaly and Other Ophthalmic Findings: A Mini-Review

Wang, Yueye; Zhou, Kai; Yang, Yong; Song, Fan; Yu, Jin; Chen, Jincao; Yao, Ke

doi:10.3389/fneur.2020.00338

Cited by 16 publications

(9 citation statements)

References 48 publications

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“…1,11,29 Furthermore, MMD is a condition in which stenosis and occlusion of the ICA progress, and the primary site of manifestation is near the ophthalmic artery; therefore, retinal vascular alterations are possible. 10,[30][31][32][33] However, changes in the retinal vessels may not be significant in young individuals due to their ability to endure ischemic stress. 14 In addition, early signs of retinal vessel alterations due to MMD may be missed.…”

Section: Discussionmentioning

confidence: 99%

Screening of Moyamoya Disease From Retinal Photographs: Development and Validation of Deep Learning Algorithms

Hong,

Yoon,

Shim

et al. 2024

Stroke

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BACKGROUND: Moyamoya disease (MMD) is a rare and complex pathological condition characterized by an abnormal collateral circulation network in the basal brain. The diagnosis of MMD and its progression is unpredictable and influenced by many factors. MMD can affect the blood vessels supplying the eyes, resulting in a range of ocular symptoms. In this study, we developed a deep learning model using real-world data to assist a diagnosis and determine the stage of the disease using retinal photographs. METHODS: This retrospective observational study conducted from August 2006 to March 2022 included 498 retinal photographs from 78 patients with MMD and 3835 photographs from 1649 healthy participants. Photographs were preprocessed, and an ResNeXt50 model was developed. Model performance was measured using receiver operating curves and their area under the receiver operating characteristic curve, accuracy, sensitivity, and F1-score. Heatmaps and progressive erasing plus progressive restoration were performed to validate the faithfulness. RESULTS: Overall, 322 retinal photographs from 67 patients with MMD and 3752 retinal photographs from 1616 healthy participants were used to develop a screening and stage prediction model for MMD. The average age of the patients with MMD was 44.1 years, and the average follow-up time was 115 months. Stage 3 photographs were the most prevalent, followed by stages 4, 5, 2, 1, and 6 and healthy. The MMD screening model had an average area under the receiver operating characteristic curve of 94.6%, with 89.8% sensitivity and 90.4% specificity at the best cutoff point. MMD stage prediction models had an area under the receiver operating characteristic curve of 78% or higher, with stage 3 performing the best at 93.6%. Heatmap identified the vascular region of the fundus as important for prediction, and progressive erasing plus progressive restoration result shows an area under the receiver operating characteristic curve of 70% only with 50% of the important regions. CONCLUSIONS: This study demonstrated that retinal photographs could be used as potential biomarkers for screening and staging of MMD and the disease stage could be classified by a deep learning algorithm.

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Section: Discussionmentioning

confidence: 99%

Screening of Moyamoya Disease From Retinal Photographs: Development and Validation of Deep Learning Algorithms

Hong,

Yoon,

Shim

et al. 2024

Stroke

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“…Moyamoya disease is associated with MGDA, retinal vascular occlusion, visual field defects caused by ischemia or hemorrhage, optic disc abnormalities, etc. [ 14 ]…”

Section: Discussionmentioning

confidence: 99%

An unusual association of Morning Glory Syndrome with chronic myeloid leukemia-Philadelphia chromosome

Panyala¹,

Mahesh²,

Singh³

et al. 2020

J Family Med Prim Care

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Morning glory disc anomaly (MGDA) is a rare congenital malformation that results from the incomplete formation of the optic nerve in utero. The majority of the patients have unilateral involvement and poor vision leading to sensory strabismus. Morning Glory Syndrome (MGS) may be a part of other syndromes and systemic abnormalities like transsphenoidal basal encephalocele, midfacial malformations, absent optic chiasma, MoyaMoya syndrome, and renal agenesis. In the present report, we describe a patient with a large disc with an excavated posterior scleral opening with a white glial tuft at the centre. The blood vessels were increased in number and arranged radially from the disc with peripapillary hyperpigmentation in clumps. Funnel-shaped excavation of the posterior globe was also noted on MRI. Associated ocular features were microcornea, nystagmus, esotropia, and systemic features included chronic myeloid leukemia- Philadelphia chromosome (CML-PC) and empty sella turcica. We report an unusual association of MGS with CML-PC.

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“…Involvement of the ICA was found in 10 (76.9%) patients. 19 The pathological changes involving the optic disc and intracranial arteries are suggestive of a similar deficiency during ectoderm development in both diseases. 19 Taking into account of the possibility of MMD as a vascular form of cephalic neurocristopathy, 13 the coexistence of MMD and these congenital abnormalities within the region of cephalic NCC distributions reflects the common underlying common pathomechanism, that is, a subtype of cephalic neurocristopathy.…”

Section: Cephalic Neurocristopathymentioning

confidence: 99%

“…17,18 Wang et al reported morning glory disc anomaly (MGDA) in 15% of patients with MMD, which is significantly higher than that in the general population. 19 MGDA is a rare congenital deficiency of the optic disc characterised by an enlarged, funnel-shaped excavation of the posterior pole involving the hypogenetic optic disc, which resembles a morning glory flower. Among 13 cases with MMD-associated MGDA, three (23.1%) patients were found to have midline cranial defects, two (15.4%) had meningoencephalocele and one (7.7%) patient had duplication of the pituitary stalk.…”

Section: Cephalic Neurocristopathymentioning

confidence: 99%

Cephalic/cardiac neural crest cell and moyamoya disease

Ota

Komiyama

2021

Neuroradiol J

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Background The neural crest is a transient structure present in early embryogenesis. Cephalic neural crest cells migrate into the pharyngeal arches and the frontonasal process that becomes the forehead and midfacial structures. They also contribute to forming the media of the arteries of the circle of Willis and their branches. The cardiac neural crest produces vascular smooth muscle cells in the ascending aorta, cardiac septum and coronary arteries. Methods In this review, we evaluate the role of the neural crest in moyamoya disease and the pathological implications from the concurrence of moyamoya disease and cardiovascular diseases from the point of view of neural crest cell distributions. Results Midline craniofacial and central nervous system anomalies with eye anomalies, morning glory disc anomaly in patients with moyamoya disease can both be explained as a subtype of cephalic neurocristopathy. Further, the association between moyamoya disease and cardiac manifestations (congenital cardiac defects and coronary artery disease) have also been reported. Both the cephalic neural crest and cardiac neural crest contribute to these concurrent arterial diseases, as cardio-cephalic neurocristopathy. Conclusion The concept of cephalic/cardio-cephalic neurocristopathy provides a new perspective to understanding the underlying aetiological associations and to developing future therapeutic approaches for concomitant moyamoya disease and cardiovascular diseases.

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Moyamoya Disease Associated With Morning Glory Disc Anomaly and Other Ophthalmic Findings: A Mini-Review

Cited by 16 publications

References 48 publications

Screening of Moyamoya Disease From Retinal Photographs: Development and Validation of Deep Learning Algorithms

Screening of Moyamoya Disease From Retinal Photographs: Development and Validation of Deep Learning Algorithms

An unusual association of Morning Glory Syndrome with chronic myeloid leukemia-Philadelphia chromosome

Cephalic/cardiac neural crest cell and moyamoya disease

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