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]

Case report A six-year-old girl presented with a history of poor vision and oscillation of eyes since infancy. Systemic, gestational and family history was unremarkable. [ijo.in]

Patients may be initially referred for leukocoria or strabismus and present with variable visual acuity, which depends on the extent of the optic nerve anomaly. Visual field defects and enlarged blind spots are also common 3. [radiopaedia.org]

None of these associations was present in either of our patients. [njcponline.com]

• Developmental Delay

  The 6p25 deletion syndrome is a rare disorder characterized by Dandy-Walker malformation, congenital heart defects, developmental delay, dysmorphic facial features, and malformations of the anterior segment of the eye with a risk for glaucoma. [ncbi.nlm.nih.gov]

  delay CNS malformations and early demise Multiple chorioretinal lacunae Disc coloboma and pigmentation 15 Miscellaneous congenital disc anomalies Peripapillary staphyloma Megalopapilla Optic disc dysplasia Horizontal and vertical disc diameters over [powershow.com]

  There were no associated developmental delays, dysmorphic features, or neurocutaneous stigmata. Neurological examination findings were normal. [jamanetwork.com]

• Disability

  An assessment of severe cognitive disability was made. The patient was referred to see the child psychiatrist for intelligence quotient (IQ) assessment. [njcponline.com]

  […] specialists involved in the management of the fetus and the neonate with the latest information on the developmental neurology and pathology of the developing central nervous system, so that they can provide prompt and informed treatment of neurological disability [books.google.it]

• 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]

• Intravenous Drugs

  Mother could not ascertain the exact illness she was treated for but she was given intravenous fluid and intravenous drugs which in Nigeria, may be suggestive of meningitis or cerebral malaria. [njcponline.com]

• Malaise

  […] resulting in sectoral nerve head pallor ( figure 8 ). 6 The clinical presentation of anterior arteritic ischemic optic neuropathy (AAION), is similar to that of AION; however, patients typically experience weight loss, headache, scalp tenderness, fever and malaise [reviewofoptometry.com]

• Jaundice

  There was also a history of neonatal jaundice which was managed with phototherapy on an outpatient basis in the delivery hospital. Patient acquired appropriate developmental milestones for age in the first 16 months of life. [njcponline.com]

• Neonatal Jaundice

  There was also a history of neonatal jaundice which was managed with phototherapy on an outpatient basis in the delivery hospital. Patient acquired appropriate developmental milestones for age in the first 16 months of life. [njcponline.com]

• Visual Impairment

  In our case, visual impairment was not severe but there were moderate autism symptoms. [dusunenadamdergisi.org]

  The extent of visual impairment caused by a coloboma ranges from asymptomatic to complete loss of vision, depending on the size and location of the defect. [ncbi.nlm.nih.gov]

• Visual Impairment

  In our case, visual impairment was not severe but there were moderate autism symptoms. [dusunenadamdergisi.org]

  The extent of visual impairment caused by a coloboma ranges from asymptomatic to complete loss of vision, depending on the size and location of the defect. [ncbi.nlm.nih.gov]

• Retinal Pigmentation

  There were patchy photoreceptor degeneration, depigmentation of the retinal pigment epithelium, edema, and cystoid degeneration. [entokey.com]

  International Classification of Diseases, Tenth Revision, Clinical Modification.Q14.2 Congenital malformation of optic disc and Congenital optic disc coloboma Q14.1 CHRPE – Congenital hypertrophy of retinal pigment epithelium Q16.3 Congenital absence [averbis.com]

  Two graders masked to patients’ visual acuities were asked to rate coloboma size, optic nerve color, foveal development, and subfoveal retinal pigment epithelial changes. [ncbi.nlm.nih.gov]

• Esotropia

  A 3-1/2-month-old white male manifested left esotropia since birth. On examination, visual acuity was fix-and-follow in both eyes. Slit-lamp exam of both eyes disclosed bilateral leukocoria and 30 prism diopters of alternating esotropia (Figure 1A). [retinatoday.com]

  On cover testing she has poor fixation with the left eye but seems to demonstrate a 6 diopter left esotropia. There is a trace left afferent pupillary defect. [aao.org]

  In some cases, spectacle correction of hyperopia in the normal eye may correct accommodative esotropia. [ncbi.nlm.nih.gov]

• Pupillary Abnormality

  Anterior segment examination was normal with no pupillary abnormality. The intraocular pressures were 14 mmHg in each eye. [njcponline.com]

• Hearing Impairment

  […] abnormalities), hearing impairment. [dusunenadamdergisi.org]

  We, however, cannot completely rule out the possibility of a neurological disorder as an association of ODC; although, our patients did not have syndromic features such as facial/skeletal abnormalities, and hearing impairment. [njcponline.com]

• Normal Hearing

  Systemic examination of the chest and cardiac systems were essentially normal. Hearing tests and renal tests done were also normal. [njcponline.com]

• Suggestibility

  Follow-up with 3-months intervals at outpatient clinic was suggested. [dusunenadamdergisi.org]

  Recent data, however, have suggested the converse. [entokey.com]

  Hyperfluorescent dots and lines suggestive of arachnoid trabeculae are observed within the SAS. [iovs.arvojournals.org]

  Optical coherence tomography disclosed a craterlike depression corresponding to the simulated optic disc, which suggested a doubling of the papilla (Figure, C and D). A B-scan ultrasonogram showed a single optic nerve head shadow. Figure. [jamanetwork.com]

  (B) Left eye showing similar findings suggestive of disc coloboma (red arrow) along with a superior rim (yellow arrow) suggestive of intact neuroretinal rim. [casereports.bmj.com]

• Nystagmus

  There was no iris or lens coloboma and no nystagmus. Fundus evaluation revealed chorioretinal and optic nerve coloboma with sparing of fovea in both eyes (Figures 1B and 1C). [retinatoday.com]

  MGDA can be isolated or associated with other ocular anomalies in the same or contralateral eye (nystagmus, cataract, microphthalmia, glaucoma, coloboma of the crystalline lens, optic nerve drusen, aniridia, lid haemangioma, preretinal gliosis, peripheral [orpha.net]

  Affiliated tissues include eye, retina and brain, and related phenotypes are nystagmus and cataract CDC : 3 CDC works with partners to reduce the burden of colorectal cancer in the United States. Learn what CDC is doing. [malacards.org]

  Conversely, early developmental disturbances of vision often disrupt ocular motor control systems, giving rise to complex disorders such as nystagmus, strabismus, and torticollis. [books.google.de]

  The more severe form is autosomal recessive and is present at birth or within 2 years; this form is accompanied by nystagmus. [ocutech.com]

• Meningism

  Most established is the finding of a transphenoidal basal encephalocele and midfacial malformations.7 Transphenoidal encephalocele is an out-pouching of the meningeal sac through a defect in the sphenoid bone, and it often contains the optic chiasm and [aao.org]

  Each optic nerve is encased in sheaths continuous with and similar to the meninges of the cranium (pia, arachnoid, and the dura). [academy.org.uk]

  Closed optic nerve pits can be associated with meningeal cysts. Primary prevention Optic pit formation occurs in utero and there is no known primary prevention. [eyewiki.aao.org]

  Mother could not ascertain the exact illness she was treated for but she was given intravenous fluid and intravenous drugs which in Nigeria, may be suggestive of meningitis or cerebral malaria. [njcponline.com]

• Expressive Aphasia

  Her visual acuity could not be assessed because she had a cognitive deficit and expressive aphasia. [njcponline.com]

• Aphasia

  Her visual acuity could not be assessed because she had a cognitive deficit and expressive aphasia. [njcponline.com]

• Convulsions

  This may have been acquired and related to the childhood febrile convulsions. [njcponline.com]

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]

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]

[…] 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]

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]

Spaide RF, Fisher Y, Ober M et al (2006) Surgical hypothesis: inner retinal fenestration as a treatment for optic disc pit maculopathy. Retina 26:89–91 CrossRef PubMed Google Scholar 11. [link.springer.com]

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]

The above treatments have variable results and the best treatment has not been determined. The following treatment plan has been recommended (7): If there is no permanent macular damage, observation is advised for 3 months. [djo.harvard.edu]

[…] 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]

Initial treatment modalities for the management of ODP maculopathy Conservative treatment and laser photocoagulation were first used for ODP maculopathy therapy. The initial recommendation for ODP treatment used to be conservative management. [dovepress.com]

Treatment and follow-up The visual prognosis in individuals with morning glory disc anomaly is poor. [aao.org]

The extremely guarded visual prognosis in view of the anatomic anomaly and the possibility of dense amblyopia was clearly explained. [ijo.in]

Prognosis[9] The prognosis for vision depends on the severity and location of the coloboma (particularly in relation to the optic nerve, macula and maculopapular bundle) and on any complications such as retinal detachment or amblyopia. [patient.info]

[…] 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]

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]

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]

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]

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]

On the basis of these cases, a defect in the closure of the embryonic fissure is the most plausible etiology of the optic pit. [scielo.br]

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. [eyewiki.aao.org]

This is your one-stop source of information both for understanding the underlying presentation, pathophysiology, neuroimaging, and diagnostic studies in neuro-ophthalmology, as well as the ideal diagnostic, treatment, and ongoing management tools for [books.google.ro]

In fact, the pathophysiology of an abnormal closure of the fetal fissure in morning glory discs can resemble similarities with optic disc coloboma [14]. [bmcophthalmol.biomedcentral.com]

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]

Objectives: Describe the pathophysiology of optic nerve colobomas. Review the presentation of a patient with an optic nerve coloboma. Summarize the treatment of an optic nerve coloboma. [ncbi.nlm.nih.gov]

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]

Email: [email protected] Search for more papers by this author First published: 25 March 2018 Citations: 2 Funding information: National Eye Institute, Grant/Award Number: EY002162; Research to Prevent Blindness Abstract Congenital sodium diarrhea [onlinelibrary.wiley.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]