Optic disc coloboma (the morning glory syndrome) and optic nerve coloboma associated with transsphenoidal meningoencephalocele

2003 ◽  
Vol 45 (2) ◽  
pp. 71-76 ◽  
Author(s):  
Mutlu Sağlam ◽  
Üzeyir Erdem ◽  
Murat Kocaoğlu ◽  
Cem Tayfun ◽  
Taner Üçöz ◽  
...  
Author(s):  
A.O. Nazarenko ◽  
◽  
E.E. Sidorenko ◽  
D.V. Miguel ◽  
A.S. Smartsev ◽  
...  

A clinical case of observation of a 3-year-old child with a newly diagnosed optic nerve coloboma and multiple malformations is considered. The clinical picture and diagnostic methods necessary for the diagnosis are reflected. On the example of this child, the differential diagnosis with Charge syndrome is considered. Key words: coloboma, optic nerve coloboma, partial optic nerve atrophy, astigmatism, Charge syndrome.


2011 ◽  
Vol 51 (10) ◽  
pp. 991-993 ◽  
Author(s):  
Robert M. Knape ◽  
Silus P. Motamarry ◽  
Charles L. Clark ◽  
Kareem I. Bohsali ◽  
Nausheen Khuddus

2018 ◽  
Vol 103 (1) ◽  
pp. 94-98 ◽  
Author(s):  
Shikha Talwar Bassi ◽  
Ronnie George ◽  
Swarnali Sen ◽  
Rashima Asokan ◽  
Vijaya Lingam

PurposeTo determine the prevalence of congenitally abnormal disc (all anomalies) in an adult population in southern India.MethodsSubjects aged ≥40 years (n=6013) underwent a complete ophthalmic examination. Optic disc anomalies were diagnosed according to the definitions given in the article.ResultsOptic disc anomalies were found in 81 eyes of 66 (1.1%, 95% CIs 0.00834 to 0.01361) patients. The prevalence of each anomaly in the descending order was peripapillary myelinated nerve fibre (0.28%), epipapillary glial tissue on the optic disc (0.28%), peripapillary vascular loops (0.16%), tilted disc (0.09%), optic disc coloboma (0.08%), optic nerve hypoplasia (0.04%), optic disc pit (0.04%), optic disc pigmentation (0.03%), optic nerve head drusen (0.03%), Bergmeister’s papilla (0.03%), optic disc pit and coloboma (0.01%).ConclusionsThe prevalence of optic disc anomalies is 1.1% in the adult South Indian population.


2015 ◽  
Vol 6 (2) ◽  
pp. 251-259
Author(s):  
Chia Lee Hsu ◽  
Christopher J. Layton

Optic disc pit and optic nerve coloboma are examples of congenital optic disc abnormalities. Although optic nerve coloboma can be inherited in an autosomal dominant fashion, no conclusive link has been found in the case of optic disc pit as an autosomal dominant disease. We describe two cases: a daughter with an optic disc pit complicated by maculopathy and her mother with a congenitally abnormal optic disc complicated by peripapillary choroidal neovascularisation.


2021 ◽  
Vol Volume 2 (Spring,2021) ◽  
pp. 13-17
Author(s):  
Ayan Mammadkhanova

Purpose:Thepurposeofthisstudyistoreportauniquecaseofmorning glorysyndrome.Methods: This study included ophthalmologic examination, opticalcoherencetomography and areviewoftherelevantliterature.Result: A 7-year-old girl with a history of morning glory syndromewas periodicallyexamined in ourclinic for5 years. Suddenly,shepresentedwiththecomplaintofdecreasedvision.Examinationsrevealed macular detachment. The visual field of the affected eye wassignificantly narrowed. OCT also revealed the presence of a fibrouscord in the centreof the optic nerve, which protruded into the vitreousbody.Discussion:Morningglorysyndromeis anuncommoncongenitaldisordercharacterizedbyawidelyenlargedpapillathatispink-orangeincolour,witha small glial tuft in thecentre. The retinalvessels are arranged radially in relation to the papilla. A pigmentedring surrounds the excavation. The incidence is not well known. Theeffectisgenerallyunilateral.Thissyndromemanifestsasopticatrophy. However, the atrophy does not progress. Visual impairmentsometimes occurs when maculardetachmentarises,as occurred inourpatient.After5yearsofobservation,ourpatient’svisiondramatically worsened as a result of macular detachment. There arevarious theories for the development of macular detachment in MGS:exudative, tractionand rhegmatogenous8.Nobreakwasfound inourpatient,sothecauseofthedetachmentwasmostlikelytheinflammatoryprocess


2021 ◽  
Vol 14 (1) ◽  
pp. e235452
Author(s):  
Sarah Schimansky ◽  
Xia Ni Wu ◽  
Catherine Egan ◽  
Quresh Mohamed

We report the case of a 19-year-old patient with symptomatic unilateral serous maculopathy associated with an optic nerve coloboma. Fluorescein angiography detected a focal late leak at the temporal edge of the coloboma which was later found to correspond with an area of choroidal neovascularisation on optical coherence tomography angiography. A course of intravitreal ranibizumab achieved good clinical and structural response. This report contributes to the evidence that maculopathies associated with cavitary optic nerve anomalies may in some instances result from choroidal neovascularisation. It also highlights the importance of angiography to identify potential choroidal neovascular membranes, particularly in the absence of haemorrhages and neovascular membranes on fundus examination and conventional optical coherence tomography.


Eye ◽  
2012 ◽  
Vol 26 (4) ◽  
pp. 494-500 ◽  
Author(s):  
S Chang ◽  
E Gregory-Roberts ◽  
R Chen

2020 ◽  
Vol 2020 ◽  
pp. 1-5
Author(s):  
Ahmad Bilal Araissi ◽  
Alaa Fayed ◽  
Youssef Helmy

Purpose. We report a case of a 1-year-old girl who was referred to us with a cerebellar anomaly and delayed growth and development for bilateral ptosis and poor fixation. Based on our ophthalmologic examination, we concluded that she has bilateral persistent fetal vasculature (PFV) with morning glory syndrome (MGS). A closer look into her neurologic condition revealed that she has Joubert’s syndrome. Observations. External examination revealed bilateral symmetrical ptosis with syndromic facies and her fundus examination revealed a large dysplastic optic disc with anomalous radiating vessels and a fibrous tissue tuft originating from the disc. The left eye showed similar findings in addition to a central excavation and a fibrovascular stalk extending from the optic disc. These findings were consistent with bilateral MGS and bilateral PFV. The brain imaging included a computed tomography scan and magnetic resonance imaging, both of which revealed a “molar tooth appearance” of the midbrain and an anomalous cerebellum suggestive of Joubert’s syndrome. Conclusions and Importance. This is the first case report of a case of bilateral MGS and bilateral PFV associated with Joubert’s syndrome. This case report documents the associated optic nerve disease in these patients, not previously described, which are additive causes of visual compromise in addition to the brain insult.


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