Bilateral moyamoya disease with bilateral morning glory disc anomaly, cataracts, and retinal detachment
Year: 2025
Type: article
Abstract: Dear Editor, It is worth describing a remarkably rare phenomenon of a boy presenting with bilateral morning glory disc anomaly (MGDA), cataracts, retinal detachment (RD), and moyamoya disease (MMD). The patient has exhibited ocular symptoms since birth, including horizontal nystagmus of both eyes and difficulty in following objects, with leukocoria of the left eye. At the age of 2 months, fundoscopy confirmed bilateral MGDA and a left cataract. Consequently, the child underwent a left lensectomy at 6 months of age. During subsequent follow-ups, a cataract developed in the right eye, and both the right and left eyes experienced successive RD, resulting in progressive vision deterioration. At 5 years of age, the patient underwent initial visual acuity assessment, demonstrating bilateral uncorrected visual acuity of 4/200 with unknown best-corrected visual acuity (BCVA). By the age of 6 years, the right eye’s BCVA was light perception (LP), while the left eye’s BCVA was count fingers at 20 cm. As such, the right eye underwent pars plana vitrectomy, lensectomy, and silicone oil tamponade, whereas the left eye received retinal laser photocoagulation. Postoperatively, the BCVA of the right eye improved to hand motion. However, the diagnosis of MMD was established when he reached 7 years of age [Figure 1a-c]. At this point, the right eye’s BCVA was no LP (NLP), and the left eye’s BCVA was 16/200. The fundoscopic examination revealed the characteristic features of bilateral MGDA and signs indicative of previous surgical interventions [Figure 1d and e]. Following comprehensive evaluation, the patient sequentially underwent right-sided superficial temporal-middle cerebral artery (STA-MCA) anastomosis and encephalo-myo-synangiosis (EMS) at 7 years and 9 days of age, followed by the left-sided procedure at 7 years and 3 months. The images before left-sided STA-MCA anastomosis and EMS are shown in Figure 2. Five months following the left-sided STA-MCA anastomosis and EMS, the right eye’s BCVA was still NLP, but the left eye’s BCVA was improved to 30/200. The binocular nystagmus was alleviated following multiple surgical interventions. The diagnostic and therapeutic course is illustrated in Figure 3.Figure 1: Preoperative imaging of the right-sided superficial temporal artery-middle cerebral artery anastomosis and encephalo-myo-synangiosis at the age of 7 (a) magnetic resonance T1-weighted imaging demonstrated nodular and linear hypointense signals in the bilateral thalamus, basal ganglia, and subcortical regions (box), corresponding to compensatory collateral vascular networks. (b and c) digital subtraction angiography revealed stenosis at the bifurcation of the bilateral internal carotid arteries (arrow), with the distal segments exhibiting a characteristic moyamoya-like vascular pattern (box). The posterior branch of the right middle meningeal artery compensated for the intracranial blood supply to the right temporo-occipital region, while the left middle meningeal artery compensated for the blood supply to the cranial base. (d and e) Fundoscopic examination showed that both optic discs were funnel-shaped with elevated ridges at the edges of the depressions and disordered pigmentation; arteries and veins were indistinguishable, with blood vessels radiating from this center in a pattern reminiscent of a “morning glory;” adjacent to the optic discs, silicone oil filling was evidentFigure 2: Three months post the right-sided superficial temporal artery-middle cerebral artery anastomosis and encephalo-myo-synangiosis (a) The patient exhibited esotropia in both eyes. (b and c) Magnetic resonance angiography revealed the absence of bilateral middle cerebral arteries. Multiple abnormal small vascular clusters were observed in the surrounding area (box). The left posterior cerebral artery was enlarged (arrow), while the right posterior cerebral artery was poorly visualizedFigure 3: A timeline of the clinical history, including significant clinical presentations, diagnostic findings, and treatmentsMMD is a chronic cerebrovascular occlusive disorder characterized by progressive stenosis at the terminal portions of the bilateral internal carotid arteries (ICAs). This stenosis induces the formation of compensatory collateral vessels at the base of the brain, creating a characteristic “puff of smoke” appearance on imaging.[1] Clinically, MMD can be associated with a spectrum of ophthalmic disorders, including MGDA, retinal vascular occlusion, ischemia- or hemorrhage-related visual impairment, optic nerve involvement, congenital cataracts, chorioretinal abnormalities, congenital glaucoma, and iris hypoplasia.[2] Under normal circumstances, MMD is combined with only one of the three ophthalmic diseases (MGDA, RD, and cataract), and it is rare to see a combination of two or more ophthalmic diseases at the same time.[2] MGDA is the most common ophthalmic presentation in all patients with MMD, and embryonic vascular dysplasia or hemodynamic alterations may therefore underpin the link between them.[3] Wang et al. conducted a comprehensive clinical investigation that demonstrated a significant association between concurrent MGDA and MMD, with most patients exhibiting concomitant congenital malformations, suggesting a potential common etiology rooted in embryonic developmental disorders.[2] Komiyama proposed that both diseases may originate from impaired migration and differentiation of neural crest cells during early embryogenesis, resulting in disrupted developmental synchrony between the peri-optic cup mesenchyme and the vascular wall of the ICA.[4] Furthermore, MGDA manifests pathological changes identical to MMD’s intracranial vasculopathy.[5] These findings collectively indicate that both MMD and MGDA may involve neuroectodermal dysgenesis followed by secondary mesodermal alterations. Bilateral involvement of both MMD and MGDA is exceptionally rare, with only two cases reported worldwide to date.[6,7] These cases exhibited additionally intracranial features such as pituitary stalk duplication and sphenoidal encephalocele, whereas this case lacks these abnormalities but presents with other ophthalmic lesions, including bilateral cataracts and RD. Management of MMD may facilitate visual recovery, as demonstrated in this patient. It is noteworthy that, in addition to visual impairments caused by ophthalmic diseases, isolated MMD frequently leads to reduced visual acuity. The incidence of visual impairment and ocular disorders in patients with MMD is approximately 3.7%.[8] Stenosis of the ICA in MMD may compromise blood supply to the ophthalmic artery, leading to ischemic optic neuropathy, which manifests as visual acuity decline and visual field defects. While anterior circulation pathology is the primary cause of vision loss in MMD patients, posterior circulation involvement may also contribute to certain visual abnormalities.[9] Revascularization surgery in MMD may indirectly alleviate ocular ischemia by improving anterior circulation perfusion, potentially restoring partial visual function. More than half of MMD patients have been observed to experience improvements in visual function after surgical revascularization to enhance cerebral perfusion.[9] In our case, the patient showed partial visual recovery following brain surgical intervention, which also suggests that cerebrovascular surgery may ameliorate visual impairment in patients with MMD. This intervention could potentially represent a novel therapeutic approach, particularly for individuals presenting with both MMD and concomitant ophthalmic complications. The patient was diagnosed with MGDA at 2 months of age, but manifestations of MMD were only incidentally identified at the age of 7. This delay highlights the limited understanding of the potential association between these two conditions. Therefore, we recommend that, even in the absence of corresponding symptoms, patients undergo thorough evaluation for brain structural abnormalities at the time of initial MGDA diagnosis. In addition, regular ophthalmologic follow-up is necessary as well, because MGDA may be comorbid with other eye diseases. Early identification and intervention may help mitigate the occurrence of adverse events. In conclusion, this case demonstrates the rare co-occurrence and potential association of bilateral MGDA, cataracts, and RD with bilateral MMD, highlighting the critical importance of early and regular neurological and ophthalmic evaluations. Furthermore, it provides preliminary evidence suggesting the potential benefits of MMD revascularization surgery in visual function recovery. However, it must be emphasized that these findings are derived from a single case report and therefore have inherent limitations in their generalizability. More extensive multicenter studies with longer follow-up durations are warranted to validate these observations. Ethical statement This study was conducted in accordance with the ethical principles outlined in the Declaration of Helsinki and its amendments. The authors certify that they have obtained appropriate consent forms from the legal guardians of the patient. In the form, the guardians have given the consent for the images and other clinical information of the patient to be reported in the journal. The guardians understand that the name and initials of the patient will not be published and due efforts will be made to conceal the identity, but anonymity cannot be guaranteed. Data availability statement All data generated or analyzed during this study are included in this published article (and its supplementary information files). Financial support and sponsorship Nil. Conflicts of interest The authors declare that there are no conflicts of interests of this paper.
Source: Taiwan Journal of Ophthalmology
Authors: Meiling Liu, Xiaofei Man, Jia Wei, Xiaoqiang Wang
Institutions: Shanghai Jiao Tong University, XinHua Hospital
Language: English
Subfield: Rheumatology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4414095970