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Congenital Optic Disc Coloboma

Morning glory syndrome


Presentation

  • Congenital eye colobomas frequently present with eye anomalies and systemic signal findings. We present a case of isolated total optic disc coloboma without systemic involvement, which has been rarely reported in the literature.[ncbi.nlm.nih.gov]
  • The patient usually presents with symptoms of blurred vision and metamorphopsia secondary to foveal involvement.[entokey.com]
  • The signs and symptoms of neurological disease are elusive by their very nature, presenting a confounding diagnostic challenge.[books.google.de]
Feeding Difficulties
  • difficulties, if associated with cleft palate Signs: The first noticeable signs of this syndrome, usually appear in the first year of life Whitish discoloration of the pupil (leukokoria) may develop in the first few months to years of life The child[dovemed.com]
Atrial Septal Defect
  • However, on echocardiography, an atrial septal defect was detected and on upper gastrointestinal series, gastroesophageal reflux disease (GERD) was diagnosed.[synapse.koreamed.org]
  • Echocardiography for differential diagnosis with CHARGE revealed ostium secundum atrial septal defect.[dusunenadamdergisi.org]
Crying
  • The child seems to ignore people when they approach her on the left side, and she was previously more likely to cry when her car seat was positioned behind the driver.[aao.org]
  • Her mother gave a positive history of delay in crying after delivery which may suggest birth asphyxia. There was also a history of neonatal jaundice which was managed with phototherapy on an outpatient basis in the delivery hospital.[njcponline.com]
Snoring
  • Further history indicates that, as a baby, she did not feed well when given a bottle, and that she occasionally snores. On examination she has a slightly wide nasal bridge.[aao.org]
Diarrhea
  • Congenital sodium diarrhea is a rare and life-threatening disorder characterized by a severe, secretory diarrhea containing high concentrations of sodium, leading to hyponatremia and metabolic acidosis.[ncbi.nlm.nih.gov]
Mouth Breathing
  • When the meningocele protrudes into the nasopharynx, it can impair breathing, leading secondarily to nasal obstruction with subsequent mouth breathing and snoring.[aao.org]
Purpura
  • One month before admission to our clinic, she was hospitalized for one week due to immune thrombocytopenic purpura (ITP) and her treatment was stopped in the follow up. Her complete blood count was within normal limits.[dusunenadamdergisi.org]
Dysplastic Ears
  • Associated facial dysmorphism (hypertelorism, dysplastic ears, cleft lip and palate, etc.), intracranial anomalies (basal encephalocele, other types of encephalocele, affected pituitary gland, corpus callosum agenesis, cerebral midline lipomas, etc.)[orpha.net]

Workup

  • Preoperative workup Cataract often develops at a younger age in patients with colobomatous lenses. The extent of the ocular structures affected by the coloboma should be determined preoperatively.[healio.com]
  • […] may be responsible in many affected patients. 1 Because of the high incidence of associated central nervous system anomalies and endocrinologic problems, all patients with optic nerve hypoplasia, particularly if bilateral, need a complete neurological workup[obgynkey.com]
  • The diagnosis of coloboma by an ophthalmologist should prompt a careful systemic workup and family history. Support provided by the Eye Tumor Research Foundation, Philadelphia, PA (CLS). The authors have no financial interests to disclose.[retinatoday.com]
  • Her mother was a housewife, with no history of any major illness during the pregnancy and antenatal workup was unremarkable. Physical examination was unremarkable with normal development for her age.[hkmj.org]
  • […] compression on the axons. [16] It can be a rare cause of AION in young patients. [8] A high index of suspicion is needed when young patients present with disc edema and loss of vision, in such patient could have avoided the unnecessary neurological workup[advbiores.net]
Hyponatremia
  • Congenital sodium diarrhea is a rare and life-threatening disorder characterized by a severe, secretory diarrhea containing high concentrations of sodium, leading to hyponatremia and metabolic acidosis.[ncbi.nlm.nih.gov]
Polyps
  • Rhinorrhea has also been described, as well as the dire consequences of surgical biopsy or removal of a presumed nasal polyp.[aao.org]

Treatment

  • Management and treatment There is no curative treatment for the anomaly. However, associated amblyopia is usually treated by occlusion of the contralateral eye with good possibilities of some visual improvement.[orpha.net]
  • Coverage includes major updates on genetics of diseases, new diagnostic techniques, and the newest treatment options.[books.google.de]
  • […] and prognosis As there is no definitive treatment for morning glory disc anomaly, management should focus on optimization of visual acuity and prevention of amblyopia 2.[radiopaedia.org]
  • The treatment is symptomatic and is also directed towards preventing and treating the complications, which may arise.[dovemed.com]

Prognosis

  • There is also no cure for this eye disorder The treatment focusses mainly on decreasing the burden of reduced vision, using various interventions The prognosis of Morning Glory Syndrome depends upon the severity of the symptoms; which varies from one[dovemed.com]
  • Treatment and follow-up The visual prognosis in individuals with morning glory disc anomaly is poor.[aao.org]
  • […] of the ipsilateral optic nerve effacement of the subarachnoid space at that level discontinuity of the uveoscleral coat at the optic nerve insertion T1 C (Gd): enhancement of the abnormal tissue in the region of the distal optic nerve Treatment and prognosis[radiopaedia.org]
  • Prognosis The visual loss is usually non-progressive but MGDA increases the risk of serous retinal detachment (30% of patients in some studies). Other reported complications include choroidal neovascularization.[orpha.net]

Etiology

  • Etiology The exact etiology is not fully understood, but the syndrome is related to poor development of the posterior sclera and lamina cribrosa during gestation. The PAX6 gene could be linked to the anomaly.[orpha.net]
  • […] discusses the adjunctive role of visual evoked potential (VEP), multifocal VEP, electroretinogram (ERG), and mul- focal ERG in the diagnosis of more challenging visual problems, es- cially in distinguishing them from macular disorders and psychogenic etiologies[books.google.de]
  • Clinical genetics evaluation in identifying the etiology of autism spectrum disorders. Genet Med 2008; 10:301-305. 3. Schendel DE, Autry A, Wines R, Moore C.[dusunenadamdergisi.org]
  • Differential diagnosis The etiology of morning glory disc anomaly is poorly understood. There are some similarities to optic disc coloboma with interference in the closure of the posterior aspect of the fetal fissure.[aao.org]
  • (Etiology) The cause of Morning Glory Syndrome developmental defect is unknown A developmental defect is a birth defect that affects the baby in the mother’s womb, during pregnancy.[dovemed.com]

Epidemiology

  • Summary Epidemiology The overall prevalence of MGDA is unknown, but it is estimated at 1/38,500 among subjects between 2 and 19 years old in Sweden. More than 100 cases have been reported in the medical literature.[orpha.net]
  • Internationale statistische Klassifikation der Krankheiten und verwandter Gesundheitsprobleme – The International Classification of Diseases is the international standard diagnostic tool for epidemiology, health management and clinical purposes.[wikivisually.com]
  • Epidemiology [ 1 ] The estimated incidence of coloboma is about 1 in 10,000 births. Coloboma is estimated to account for 3-11% of blindness in children worldwide. Aetiology [ 2 ] The eye develops in the embryo, from the optic cup and optic fissure.[patient.info]
  • Optic nerve hypoplasia syndrome: a review of the epidemiology and clinical associations. Curr Treat Options Neurol 2013; 15 (1) 78-89 34 Garcia ML, Ty EB, Taban M, David Rothner A, Rogers D, Traboulsi EI.[thieme-connect.com]
  • Epidemiology of congenital eye malformations in 131,760 consecutive births. Ophthalmic Paediatr. Genet. 13, 179–186 (1992). Pagon, R. A. Ocular coloboma. Surv. Ophthalmol. 25, 223–236 (1981).[eyewiki.aao.org]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology Pathophysiology of optic disc pits is unclear. Some hypothesize that they occur due to incomplete closure of the optic fissure resulting in a microcommunication between the subarachnoid space and the pit.[eyewiki.aao.org]
  • A review of pathophysiology, diagnosis and treatment Ethan H. Tittler, BA • Khizer R. Khaderi, MD, MPH • Alfredo A. Sadun, MD, PhD Optic disc pit is a rare, congenital excavation of the optic nerve head, first described by Wiethe 1 in 1882.[retinalphysician.com]
  • […] flower ( figure 6 ). 3 Upon physical examination, affected individuals frequently exhibit a large, excavated disc with glial tissue that is centrally surrounded by peripapillary pigment changes (which may include the macula). 3 There is debate on the pathophysiology[reviewofoptometry.com]
  • In the future, advances in imaging technology may allow further understanding of the pathophysiology in this unusual condition. Correspondence: Dr. Han, Medical College of Wisconsin Eye Institute, 925 N 87th St, Milwaukee, WI 53226 ( dhan@mcw.edu ).[jamanetwork.com]
  • Regarding the pathophysiology of ODP maculopathy and the origin of fluid, the exact mechanism remains unclear.[dovepress.com]

Prevention

  • The cause of the condition is unknown and currently, there are no methods to prevent this eye disorder Active research is being performed to explore the possibilities for the treatment and prevention of MGS What is the Prognosis of Morning Glory Syndrome[dovemed.com]
  • […] insertion T1 C (Gd): enhancement of the abnormal tissue in the region of the distal optic nerve Treatment and prognosis As there is no definitive treatment for morning glory disc anomaly, management should focus on optimization of visual acuity and prevention[radiopaedia.org]
  • Relaxing microsphincterotomies are important to prevent an excessively inferiorly positioned aperture after pupilloplasty.[crstoday.com]
  • Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ] Optic Nerve Disorders The optic nerve is a bundle of more than 1 million nerve fibers that carry visual messages.[icdlist.com]

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