A Case of Intravitreal Bevacizumab Injection for the Treatment of Choroidal Neovascularization in Morning Glory Syndrome

PURPOSE: We report a case of intravitreal bevacizumab injection for the treatment of choroidal neovascularization in morning glory syndrome. CASE SUMMARY: A 51-year-old male visited our hospital for a 1.5-year visual disturbance in his right eye. The patient's best-corrected visual acuity was 0.1 in the right eye. After fundus examination, we found characteristic findings of morning glory syndrome with submacular hemorrhage and serous retinal detachment in the right eye. Optical coherence tomography, fluorescein angiography and indocyanine green angiography were performed for evaluation. Retinoschisis, subretinal fluid, and choroidal neovascularization were detected, and thus bevacizumab was injected in the right eye. After intravitreal bevacizumab injection, retinoschisis was improved, and subretinal fluid was decreased. However, retinal pigment epithelial detachment was newly detected, and serous retinal detachment persisted. After 2 months, a second bevacizumab injection was performed. After these intravitreal bevacizumab injections at 1 and 2 months, visual acuity was 0.4 and 0.6, respectively. Visual acuity improved to 1.0 after 3 months. Visual acuity was maintained for at least 6 months with no relapse of choroidal neovascularization. CONCLUSIONS: The choroidal neovascularization in morning glory syndrome was effectively treated with intravitreal bevacizumab injections.

A Case of Bilateral Morning Glory Syndrome

PURPOSE: To report a bilateral case of morning glory syndrome. CASE SUMMARY: On May 30, 2002, a six-year-old patient visited our clinic with impaired visual acuity of her left eye and was diagnosed as having a cataract on her left eye superimposed on a bilateral morning glory anomaly. According to cycloplegic refraction, the patient's corrected visions was 0.8 in the right eye and 0.1 in the left. On June 20, 2002, the patient received ultrasonographic phacoemulsification, intraocular lens implantation, synechiolysis and partial vitectomy in her left eye. Approximately 5.2 years after the surgery, according to manifest refraction, the patient's corrected visions were 0.8 in the right eye and 0.1 in the left, no prominent postoperative changes were observed on slit lamp microscopy and fundus examinations. The thickness of the central macula of her right eye had decreased according to optical coherence tomography; the physiologic scotoma size of the patient's right eye had increased with narrowed peripheral visual field of her left eye. CONCLUSIONS: Although monocular morning glory anomaly has previously been reported to occur, in the present study case, the anomaly occurred bilaterally. In morning glory patients, strabismus examination and additional evaluation of a patient's general state should be performed along with a regular fundus examination.

Vitrectomy of rhegmatogenous retinal detachment in morning glory syndrome / 国际眼科杂志(Guoji Yanke Zazhi)

We report a case of retinal detachment in morning glory syndrome(MGS). We think that identification of the retinal break, removal of the traction force by vitrectomy, the use of long-acting gas as endotamponade, all contributed to the successful treatment of the disease. The pathogenic mechanisms of the disease and the function of B-scan to the diagnosis are included.

Absence of mutations in Pax6 gene in three cases of Morning Glory syndrome associated with isolated growth hormone deficiency / A ausência de mutações no gene PAX6 em três casos de síndrome de Morning Glory associada à deficiência isolada de hormônio do crescimento

Morning glory syndrome (MGS) is a congenital optic disc dysplasia often associated with craniofacial anomalies, especially basal encephalocele and hypopituitarism. Clinical signs are varied and often occult. The PAX6 gene is involved in ocular morphogenesis and is expressed in numerous ocular tissues during development especially in the developing central nervous system. The aim of the present study is to evaluate PAX6 in MGS associated with isolated growth hormone deficiency. Three pre-pubertal males (A, B and C) with MGS and short stature due to growth hormone deficiency, treated with recombinant human growth hormone with limited response, were reported. Two of them had basal encephalocele. Coding and non-coding sequences corresponding of PAX6 different transcripts were analyzed by direct sequencing. Nucleotide variations causing putative aminoacid change were not observed. Patient A presented the new IVS2+9G>A transition, whereas patients A and C were heterozygous for known single nucleotide polymorphisms (SNP) within the intron 4. In addition, two SNP heterozygoses were observed for patient C in both intron 9 and 13. Sequencing also revealed several nucleotide variations in patient B. Two heterozygoses for known polymorphisms were identified along with a novel C>A nucleotide change in intron 4. This patient also presented a low number on the TG repeat in intron 9 and a new IVS11+33A>T transversion. Gene regulation and transcription of PAX6 are complex processes; there are two major protein isoforms, PAX6(-5a) and PAX6(+5a), and nine transcripts described. Furthermore, extra transcription regulatory elements have been postulated within PAX6 introns. Considering that neither population distributions on PAX6 polymorphism nor their linkeages with diseases have been reported, a functional effect due to alterations described here cannot be discarded.

A síndrome de Morning Glory (SMG) é uma displasia óptica congênita associada a anomalias craniofaciais, principalmente encefalocele basal e hipopituitarismo. Os sinais clínicos são variados e muitas vezes ocultos. O gene PAX6 está envolvido na morfogênese ocular e se expressa em vários tecidos oculares durante o desenvolvimento do sistema nervoso central. O objetivo deste estudo foi avaliar o gene PAX6 na SMG associada com deficiência isolada de hormônio de crescimento. Foram relatados três pacientes pré-púberes (A, B e C) com SMG e baixa estatura por deficiência de hormônio de crescimento tratados com hormônio de crescimento recombinante humano. As seqüências codificadoras e não-codificadoras correspondentes ao PAX6 em diferentes transcritos foram analisadas por seqüenciamento direto. Variações nucleotídeas com trocas pontuais de aminoácidos não foram encontradas. O paciente A apresentou uma transição nova IVS2+9G>A, enquanto os pacientes A e C foram heterozigotos para um polimorfismo (SNP) no íntron 4. Ainda, dois SNPs em heterozigose nos íntrons 9 e 13 foram observados no paciente C. O seqüenciamento também mostrou várias variações nucleotídeas no paciente B. Dois SNPs conhecidos com a alteração nucleotídea nova C>A no íntron 4 foram observados em heterozigose. Este paciente também apresentou um baixo número de repetições TG no íntron 9 e uma nova transversão IVS11+33A>T. A regulação e a transcrição do gene PAX6 são um processo complexo; existem 2 isoformas principais da proteína, PAX6(-5a) e PAX6(+5a) e 9 transcritos descritos. Considerando que nem a distribuição de SNPs no PAX6 e nem as suas ligações com as doenças foram relatadas, um defeito funcional devido às alterações descritas não pode ser descartado.

The Clinical Characteristics and Imaging Findings of Morning Glory Syndrome / 华中科技大学学报（医学）（英德文版）

To investigate the features of CT, ultrasonography and fundus fluorescein angiography(FFA) of morning glory syndrome, the data on CT, A/B-scan ultrasonography and fundus fluorescein angiography (FFA) were retrospectively analyzed in 8 cases of morning glory syndrome (MGS).Among those cases, 6 were examined with CT, 4 with FFA and 8 with A/B-scan ultrasonography.Results showed that the characteristics of CT, A/B-scan ultrasonography and FFA in MGS included:(1) The attachment spot of optic nerve became thin and vitreous body protruded to the posterior wall of eyeball with a spherical shape on CT image; (2) in the early period of FFA, hypofluorescence appeared on the optic, the abnormal arteriae and veins around the optic papilla were displayed clearly and in the late period, optic disc was stained with fluorescein; (3) on B-scan ultrasonogram, the vitreous cavity extended to the posterior pole and optic papilla, and projected to the basal part of muscle cones and thus the posterior part of vitreous cavity looked like an upside-down bottleneck. Sometimes the echogenic band of retinal detachment could also be seen. On A-scan ultrasonogram, both vitreous cavity and bottleneck showed no ultrasonic echoes and presented a base line without any evident wave crest. It is concluded that CT, A/B-scan ultrasonography and FFA could show the imageological features of MGS from different aspects, which helps clinicians to differentiate it from other diseases such as optic disc coloboma. CT and A/B-scan ultrasonography, in particular, are considered to be reliable imageological methods for the accurate diagnosis of MGS and are superior to the traditional techniques.

Basal encephalocele associated with morning glory syndrome: case report

The basal encephaloceles refer to rare entities and they correspond to herniation of brain tissue through defects of skull along the cribiform plate or the sphenoid bone. A rare morning glory syndrome, with characteristic retinal defect has been reported in association with basal encephaloceles. Hypophysis hormonal deficiencies may occur. We accounted for a pituitary dwarfism with delayed diagnosed transsphenoidal encephalocele associated with morning glory syndrome, showing the alterations found in retinography, computed tomography and magnetic resonance imaging.

As encefaloceles basais são entidades raras e correspondem a herniações do tecido cerebral através de um defeito do crânio, ao longo da lâmina crivosa etmoidal ou do osso esfenoidal. A rara síndrome morning glory, com alterações de fundo de olho características pode apresentar-se associada à encefalocele basal. Deficiências hormonais hipofisárias podem ocorrer. Relatamos caso de nanismo hipofisário com encefalocele transesfenoidal de diagnóstico tardio associada à síndrome de morning glory, mostrando as alterações na retinografia, tomografia computadorizada e ressonância magnética.

CT diagnosis of morning glory syndrome (report of 7 cases) / 中华放射学杂志

Objective To study the CT findings and diagnostic role in morning glory syndrome (MGS). Methods CT study of 7 patients with MGS diagnosed by clinical information was reviewed retrospectively. Results CT findings included: (1) the crater like excavation of the disc in 3 patients; (2) the funnel shaped widening of the retrobulbar optic nerve, a pear shaped deformity of the globe in 2 patients; (3) two patients with cystic expansion of the optic nerve, which was of water density and was continuous with the vitreous humor. Conclusion The CT findings of MGS were particularly striking. CT is the imaging method of choice in the diagnosis of this disorder.

A Case of Epidermal Nevus Syndrome Associated with Morning Glory Syndrome and Intestinal Pseudoobstruction / 대한피부과학회지

Epidermal nevus syndrome is defined as the association of epidermal nevi with abnormalities of the other organ systems, and is regarded as one of the neurocutaneous syndromes. However, till now, epiderrnal nevus syndromi has not been reported with either Morning glory syndrome or intestinal pseudoobstruction. We experienced a case of a 7-year old rnale who had had multiple epidermal nevi on the scalp and forehead and solitary larg cafeau lait spot on his chest since birth. He had histories of failure to thrive and mental retardation, but no seizures. He also had histories of frequent diarrhea and abdominal distension. Physical examination showed abnormalities of the skin, teeth, and Morning glory syndrome of both oplic discs. Colon study, small bowel series and biopsy showed intestinal pseudoobstruction. Skeletal survey revealed a difference between the left upper extremity and the right one.

Image findings of morning glory syndrome / 中华超声影像学杂志

Objective To evaluate the significance of ultrasonography in diagnosis and differentiation of morning glory syndrome. Methods Ultrasonography,CT and fundus fluorescein angiography(FFA) features were retrospectively analyzed in 6 cases of morning glory syndrome.Results Ultrasonography, CT and FFA characters of morning glory syndrome were as follow: on the B-type ultrasonogram, the dark area of vitreous cavity extended to the posterior pole and optic papilla, projecting to the basal part of muscle cones, thus the posterior part of vitreous cavity looked like a converted bottleneck. Sometimes the light ribbon of retinal detachment can also be seen. On the A-type ultrasonogram, both vitreous cavity and bottleneck showed no ultrasonic echo and acted as an equable baseline without any evident wave crest. The attachment spot of optic nerve of eye turned thin and vitreous body protruded to the posterior wall of eyeball with spherical shape on CT imaging. In the earlier period of FFA, hypofluorescence appeared on the optic disc; then ,the abnormal arteriae and vein around the optic papilla were diplayed clearly; In the later period, optic discs were dyed with fluorescein. Conclusions Ultrasonography, CT and FFA showed imageological features of morning glory syndrome from different aspects, which was helpful for differentiating similar diseases such as optic disc coloboma. Especially, ultrasonography was considered as a more safe and reliable imageological method than other imageological methods in precisely diagnosing and differentiating morning glory syndrome and superior to the traditional fundus check which gives no integrity.

Treatment of Morning Glory Syndrome with Retinal Detachment

Morning glory syndrome is a rare congenital anomaly in optic disc, which is characterized by defect in optic disc due to optic nerve dysgenesis, abnormal retinal vessels, and chorioretinal pigment disturbance around optic disc. Retinal detachment in morning glory syndrome occurs in 26% to 38% of the cases, which is thought to be non-rhegmatogenous in nature and usually develops in posterior pole of the retina. Surgical treatment is indicated in cases with bullous and total retinal detachment in morning glory syndrome. The authors successfully reattached the detached retina in a 3 year old boy with morning glory syndrome using trans pars plana vitrectomy, scleral buckling, retinotomy, silicone oid injection, and endolaser photocoagulation. The authors followed up for 15 weeks after operation, and the vision of left eye was counting finger and the retina remained to be reattached.

Treatment of Morning Glory Syndrome with Retinal Detachment

Morning glory syndrome is a rare congenital anomaly in optic disc, which is characterized by defect in optic disc due to optic nerve dysgenesis, abnormal retinal vessels, and chorioretinal pigment disturbance around optic disc. Retinal detachment in morning glory syndrome occurs in 26% to 38% of the cases, which is thought to be non-rhegmatogenous in nature and usually develops in posterior pole of the retina. Surgical treatment is indicated in cases with bullous and total retinal detachment in morning glory syndrome. The authors successfully reattached the detached retina in a 3 year old boy with morning glory syndrome using trans pars plana vitrectomy, scleral buckling, retinotomy, silicone oid injection, and endolaser photocoagulation. The authors followed up for 15 weeks after operation, and the vision of left eye was counting finger and the retina remained to be reattached.

Morning Glory Syndrome

Recently we have experienced two cases of the morning glory syndrome which is an uncommon congenital anomaly of optic nerve head. Visual evoked potentials and fluorescein angiographic findings are described. The visual evoked potentials elicited with bright flashes and patterns revealed delayed latencies and subnormal amplitudes. The amplitude of the traces probably depends on the severity of the involvement of the optic nerve. Also, the possible macular abnormalities and the strabismic or anisometropic amblyopia developing in morning glory syndrome may contribute to the abnormal finding of visual evoked potentials.