Morning Glory Anomaly With Serous Macular Detachment.

The morning glory (MG) disc anomaly is a congenital excavation of the posterior globe involving the optic disc, with a distinct appearance reminiscent of the MG flower. Various intracranial and ocular associations with MG have been documented. Conditions such as trans-sphenoidal encephalocele and hypoplasia of the intracranial vasculature have been observed in association with this anomaly. In this report, we present a case of MG optic disc anomaly accompanied by serous macular detachment.

Congenital Optic Disc Anomalies: Insights from Multimodal Imaging.

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.

[Embryonic development and congenital diseases of the orbit]. / Embryologische Entwicklung und angeborene Erkrankungen des Auges.

Many neuroradiologists focus primarily on the central nervous system and give little attention to other regions like the eye/orbit. It is easy to be deceived by the pitfall called satisfaction of search (also abbreviated SOS), despite most congenital eye diseases being easily recognized if one is aware of them. In this article, the most common congenital orbital abnormalities are described, and their basic prenatal causes are summarized.

Multimodal imaging of morning glory syndrome with persistent hyperplastic primary vitreous.

Morning glory syndrome (MGS) and persistent hyperplastic primary vitreous (PHPV) are congenital abnormity, which may be related to the increased incidence of systemic abnormalities and retinal detachment，diagnosed by ultrasound, identified by CT, MRI, and with the confirmation of fundus examination.

Mediastinal high-grade vasculogenic mesenchymal tumour with seminoma: a case report and literature review.

Germ cell tumours with somatic-type solid malignancy (GCT-STM) are a rare disease of the mediastinum. Recently, a cohort of vasculogenic mesenchymal tumour (VMT)-nonseminoma cases with different prognoses were recognized and reported. Here, we report a case of mediastinal high-grade VMT with a seminoma. A 16-year-old male had a fever, chest tightness and fatigue. Chest CT showed a 7.5 cm×5.3 cm solid mass in the right anterior mediastinum. The serum levels of alpha-fetoprotein (AFP), beta-human chorionic gonadotropin (ß-HCG) and carcinoembryonic antigen (CEA) were within the normal range. Tumorectomy was performed. The tumour was irregular, and no capsule was found. The cut surface was greyish white and greyish brown with medium consistency. There were foci of bleeding and necrosis. Microscopic histology showed prominent vascular proliferation, which was lined by mildly atypical endothelial cells in a cellular stroma with significant cytologic atypia. The vascular spectrum varied from crevice-like or antler-like thin- to thick-walled vessels. Beyond the tumour area, inside the remnant thymus tissues, there were small clusters of polygonal tumour cells with clear cytoplasm, distinct cell membranes, and round to polygonal nuclei with prominent nucleoli that were positive for Oct4, PLAP, SALL4 and CD117. The patient did not receive any treatments pre- or postoperation, and his condition was stable without progression after 14 months of follow-up evaluation. Here, we added a new entity of GCT-STM of the mediastinum composed of VMT and seminoma. A better understanding of the pathological features of GCT-VMT could help pathologists improve their awareness of these rare diseases.

Frontonasal Dysplasia: A Diagnostic Challenge with Fetal MRI in Twin Pregnancy.

Callosal agenesis is a complex condition with disruption in the steps such as cellular proliferation, migration, axonal growth, guidance, or glial patterning at the midline. Agenesis of the corpus callosum (AgCC) is associated with diverse midline craniofacial malformations affecting the frontal-cranial and midface skeleton. Diagnosing midline abnormalities prenatally can be challenging, especially in twin pregnancies, due to poor resolution of skull base structures on fetal MRI, basal cephalocele could be mistaken for fluid in the nasopharynx, motion limitation, and fetal positioning. Our case highlights the importance of evaluation for other associated midline anomalies when there is callosal agenesis.

Progression of bilateral morning glory syndrome associated with unilateral persistent fetal vasculture: A case report of long term follow-up in an infant.

PURPOSE: To describe a case of Bilateral Morning Glory Syndrome (MGS) associated with Unilateral Persistent Fetal Vasculature (PFV) in a 3-day old neonate. OBSERVATIONS: A 3-day-old neonate was found bilateral retinal abnormalities due to neonatal eye screening. Dilated fundus exam showed bilateral optic disc dysplasia with the persistent hyaloid vessels in right eye at first. With the progress of the disease, optic disc was enlarged with central umbilication which with a similar anomalous radiating peripapillary vascular appearance, the persistent hyaloid vessels in vitreous cavity of right eye gradually disappear, a large amount of exudation can be seen in the posterior pole retina with macular movement in both eyes. Bilateral vitrectomy was performed in this case, then the condition of the neonate's both eyes is stable until 1 year old. CONCLUSIONS AND IMPORTANCE: This is a rare case that showing the development of MGS and PFV and the relationship between these two diseases. In addition, we completely observed the whole process of the change of the persistent hyaloid vessels in the vitreous cavity of a case of MGS associated with PFV.

Multimodal imaging in differential diagnosis between papilledema and choroidal neovascularization associated with morning glory syndrome.

PURPOSE: To describe the role of optical coherence tomography angiography (OCTA) to help in differential diagnosis between papilledema and a rare case of choroidal neovascularization (CNV) associated with Morning Glory Syndrome (MGS). METHODS: Observational case report. RESULTS: A 22-year old man was referred to Eye clinic from Neurological unit with a diagnosis of papilledema in right eye. OCTA scans on the optic disc revealed a dense radial peripapillary vascular network while two polypoidal choroidal vasculopathy (PCV) were present in peripapillary region at the edge of staphyloma in corrispondence of choriocapillary layer. Therefore, the patient underwent three-monthly intravitreal injections of anti-vascular endothelial growth factor. One and six months after loading phase, the PCVs showed no clinical activity at structural spectral domain-OCT and OCTA. CONCLUSION: This case revealed the crucial role of OCTA as an efficace diagnostic technique in discriminating papilledema from MGS complicated by CNV, allowing to make differential diagnosis, useful in ophthalmological and neurological clinical practice.

Prophylactic juxtapapillary laser photocoagulation in pediatric morning glory syndrome.

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.

Internal limiting membrane packing for treatment of morning glory syndrome with rhegmatogenous retinal detachment.

Purpose: This study aimed to report the ocular features, surgical methods, and surgical outcomes of a patient with morning glory syndrome(MGS) complicated with rhegmatogenous retinal detachment(RRD). Observations: The patient was a 38-year-old Chinese woman with congenital cataract in her left eye and an artificial eye in her right eye. Ocular examination confirmed MGS complicated with RD in the left eye and revealed a retinal hole in the temporal margin of the optic disc. The retina successfully reattached after pars plana vitrectomy(PPV), silicone oil tamponade and laser photocoagulation, but the hole did not close and occurred obvious contractile movement. The retina did not detach again during the follow-up period. One and a half years later, silicone oil removal combined with internal limiting membrane and hyaloid or glial remnant plugging, autologous blood covering and C3F8 filling were performed, and the retinal hole was finally closed. Conclusions and importance: This case is the first to report contractile movement of the retinal hole in a patient with MGS complicated with RD, and the hole was closed by internal limiting membrane tamponade combined with autologous blood coverage.

Recurrent proliferative vitreoretinopathy in a patient with morning glory syndrome and intellectual disability.

PURPOSE: To report a case of morning glory syndrome (MGS) with retinal detachment, in whom unusually severe proliferative vitreoretinopathy (PVR) developed after surgery. OBSERVATIONS: A 6-year-old boy with intellectual disability underwent vitrectomy for retinal detachment associated with MGS in the left eye. Vitrectomy was performed five times. C3F8 gas tamponade was used for the first and second surgeries. However, the retina developed PVR with a nearly 360-degree giant retinal tear after the second surgery. The third surgery required 360-degree retinotomy, followed by short-term perfluoro-n-octane (PFO) tamponade, which was removed ten days later. During the fourth surgery, the retina was found to be flipped over in a funnel-shape on the retinal pigment epithelium under the PFO. Silicone oil (SO) tamponade was used. During the fifth surgery, the retina was flipped over under the SO again. We found that the patient shook his head rapidly and vigorously while crying. CONCLUSIONS AND IMPORTANCE: We speculate that excessive head shaking associated with the patient's intellectual disability induced an unusual shape of the retina under PFO or SO. Although difficult to achieve, postoperative resting seems important in preventing such complications in intellectually disabled patients with retinal detachment.

Case Report: Fibroglial Retinal Tissue in Contractile Morning Glory Disc Anomaly.

The purpose of the present case is to describe a patient with tractional retinal detachment (RD) associated with contractile morning glory: a 17-year-old female, with a history of failed surgery for RD when she was 2 years old in her right eye (OD), nystagmus, and a limited visual acuity in the left eye (OS). The slit lamp examination showed phthisis bulbi in OD and the anterior segment was unremarkable in OS. Dilated fundus examination revealed a tractional RD in the posterior pole and peripapillary and preretinal fibrosis without evidence of intravitreal dispersion of retinal pigment epithelial cells. After surgery treatment, the RD resolved and the posterior segment showed a staphylomatous excavation around the optic disc anomaly with irregular contractions that folded the macular area. This were unrelated to light, breathing, or eye movements. Although morning glory disc anomaly is associated with RD, the early diagnosis can reverse structural changes. In this case, the rare association with contractile movements was found posterior to the pars plana vitrectomy after all the fibroglial epiretinal tissue was removed.

Optical coherence tomography angiography in contractile morning glory syndrome.

This study describes the optical coherence tomography and optical coherence tomography angiography features of three eyes of three patients affected by contractile morning glory syndrome. Optical coherence tomography angiography scans of the peripapillary retina revealed a dense microvascular network without any vascular difference between the superficial vascular plexus and the deep vascular plexus around the optic nerve. These optical coherence tomography angiography findings confirm that the contractile movement could be due to the presence of an autonomic cholinergic muscular mechanism in the posterior part of the globe. In fact in our cases, the contractile movement seemed to be induced by massage of the eyeball. Optical coherence tomography angiography is a valid, non-invasive, dyeless, and reliable method that could shed light on the pathogenesis of this rare disease of the optic disk.

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

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.

Total retinal detachment and contractile movement of the disc in eyes with morning glory syndrome.

PURPOSE: This study aimed to report clinical characteristics, intraoperative findings, and surgical outcomes of 2 eyes of 2 patients with retinal detachment (RD) associated with morning glory syndrome (MGS) and contractile movement of the disc. OBSERVATIONS: Case 1 was a 3-year-old Japanese boy who presented with congenital microphthalmos in the left eye. The presence of total RD with MGS and contractile movement of the disc was confirmed by ophthalmoscopic examination. During vitrectomy, migration of perfluorocarbon liquid into the subretinal space was observed, suggesting a communication between the vitreous cavity and the subretinal space. Here, the retina was reattached briefly after the surgery; however, it detached again 2 months after surgery. Case 2 was a 3-month-old Japanese girl who was referred to our hospital for evaluation of RD and MGS in her left eye. Partial RD, MGS, and contractile movement of the disc were confirmed by ophthalmoscopic examination. The RD remained unchanged up to 18 months from the first visit, but atresia of the pupil was found 21 months after the first visit. Severe proliferative vitreoretinopathy and contractile movement of the disc were found after lensectomy. It was impossible to completely remove the membrane despite meticulous effort of peeling it off. At the 15-month follow-up, the retinal configuration improved but remained detached. CONCLUSION AND IMPORTANCE: Total RD with contractile movement of the disc associated with MGS is a rare condition that seems difficult to treat.

Compound heterozygous mutations in SMO associated with anterior segment dysgenesis and morning glory syndrome.

Eye development in vertebrates is a highly coordinated multistep process while defects in key factors might lead to severe congenital ocular disorders. SMO encodes a G protein-coupled receptor that functions in Hedgehog signal transduction, an essential step during eye development. Here we reported the first identification of compound heterozygous mutations (c.G338A; p.R113Q and c.C1619T; p.A540V) in the SMO gene in a patient with both anterior segment dysgenesis (congenital corneal opacity, cataract) and morning glory syndrome, using trio-based whole exome sequencing. The clinical manifestations of this patient were quite consistent with the phenotypes observed in murine SMO null mutants. In silico bioinformatics analyses showed that the newly identified mutations revealed extremely low allele frequencies in the general populations, and were predicted to affect SMO protein stability and residues physiochemical properties. Further investigations revealed a significant decrease of SMO expression in the patient compared with healthy controls (0.71 ±â€¯0.04 vs. 1.49 ±â€¯0.29, P = 0.0265). Therefore, this study pinpoints, for the first time, the potential key sites in SMO that contribute to the maintenance of healthy ocular development, highlighting potential targets for upcoming gene therapy.

Postoperative follow-up of a case of atypical morning glory syndrome associated with persistent fetal vasculature.

BACKGROUND: Morning glory syndrome is a relatively rare congenital optic disc anomaly that is often difficult to identify when associated with additional congenital ocular anomalies. This case report describes the diagnosis, treatment, and postoperative follow-up care of a young girl with morning glory syndrome accompanied by persistent fetal vasculature, retinal fold, and retinal detachment. Here, we also give a brief review of the relevant literature. CASE PRESENTATION: A 5-year-old girl was referred to our clinic for a complaint of decreased vision for 6 months in the right eye. The best corrected visual acuity was hand motion in her right eye and 0.8 in her left eye. A fundus examination indicated vitreous opacities and scattered hemorrhages, as well as striped folds in the temporal retina of the affected eye. B-ultrasound and magnetic resonance imaging scans suggested that it could be a congenital dysplasia of the right eye. Pars plana vitrectomy was performed in the right eye. Morning glory syndrome associated with persistent fetal vasculature was confirmed in subsequent follow-up observation according to the fundus appearance, optical coherence tomography, and fundus fluorescein angiography imaging. CONCLUSIONS: The patient was diagnosed as morning glory syndrome associated with persistent fetal vasculature and retinal fold. The morning glory disc with the presence of retinal folds did not seem quite typical and that made the diagnosis difficult. This report stresses the importance of considering concurrent morning glory syndrome and persistent fetal vasculature. Vitrectomy may be beneficial in the management of the morning glory syndrome and persistent fetal vasculature if accompanied by retinal detachment in similar cases.

Marcus Gunn Jaw-Winking Syndrome Associated with Morning Glory Disc Anomaly.

Marcus Gunn jaw-winking syndrome (MGJWS) is a rare form of congenital blepharoptosis and one of the congenital cranial dysinnervation disorders (CCDD). In addition, morning glory disc anomaly (MGDA) is a congenital optic disc anomaly of unknown etiology. The present report is the first to describe an association between MGJWS and MGDA in an otherwise healthy 7-year-old boy. He also had counting finger vision, anisometropia, esotropia, and monocular elevation deficiency in the same eye. In the literature, both MGJWS and MGDA have been reported to be associated with Duane retraction syndrome, a form of CCDD.

Intraoperative optical coherence tomography assisted analysis of pars Plana vitrectomy for retinal detachment in morning glory syndrome: a case report.

BACKGROUND: The pathogenesis of non-rhegmatogenous retinal detachment (non-RRD) associated with morning glory syndrome (MGS) is not established, as well as best surgical approach to treat RD. Our purpose was to analyse intraoperative optical coherence tomography data (iOCT) in all steps of pars plana vitrectomy (PPV) for non-RRD in MGS, in order to follow pathophysiological aspects of the disease and to understand the tissues behaviour during surgical workflow. CASE PRESENTATION: Intraoperative spectral domain optical coherent tomography (iSD-OCT) assisted PPV using Rescan 700 (Carl Zeiss Meditech, Jena, Germany) with epiretinal membrane (ERM) and internal retinal membrane (ILM) peeling, and air endotamponade was performed on the only eye of a 21 years old female with non-RRD associated with MGS. BCVA, pre-, intra- and postoperative OCT were performed along with standard ocular examination. iOCT video and snapshots were analysed intra- and postoperatively using post-processing approach using graphic software. The progression of non-RRD resulted in best corrected visual acuity (BCVA) decrease from 0.8 to 0.2. Triamcinolone enhanced iOCT imaging revealed strong vitreous traction and adhesion above the macula and optic disc. Internal limiting membrane was peeled under iOCT control to prevent the peeling of inner layers of the retinal schisis. No retinal break was detected, and only air endotamponade was performed. The retina reattached during first 4 weeks of follow-up with gradual resolution of intraretinal- and subretinal fluid, and remained stable in 12 months. BCVA improved to 0.8. CONCLUSION: Based on iSD-OCT findings we assume that non-RRD in this case of MGS is caused primarily by the vitreous traction with further possible formation of the retinal breaks. Retinal reattachment reached only with air endotamponade strongly advocates the tractional component of non-RRD and retinal schisis assotiated with MGS. Early PPV for central non-RRD and retinal schisis with the use of iOCT can be performed in more safe and controlled manner and has to be considered to reduce the risk of retinal break formation and to prevent the central vision loss.