scholarly journals Multimodal Imaging of Large Optic Disc Coloboma: A Report of Three Cases

2020 ◽  
Vol 11 (3) ◽  
pp. 612-619
Author(s):  
Sophia El Hamichi ◽  
Dhariana Acón ◽  
Timothy G. Murray ◽  
Audina M. Berrocal
Keyword(s):  
Congenital Anomaly ◽  
Optical Coherence Tomography ◽  
Optic Nerve ◽  
Optic Disc ◽  
Multimodal Imaging ◽  
Heart Defects ◽  
Charge Syndrome ◽  
Rare Congenital Anomaly ◽  
Cat Eye Syndrome ◽  
Optic Disc Coloboma

Optic disc coloboma (ODC) is a rare congenital anomaly of the optic nerve. Optical coherence tomography (OCT) helps to monitor the complications when there is associated retinoschisis, retinal detachment, or peripapillary neovascularization, while being minimally invasive. OCT angiography could help to better understand this entity from a vascular perspective. We report multimodal imaging of 3 children with large ODC associated with cat eye syndrome, CHARGE syndrome (coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear abnormalities), and branchio-oculo-facial syndrome.

scholarly journals CHARGE syndrome

2020 ◽  
Vol 65 (1) ◽  
pp. 116-121
Author(s):  
J. G. Leviashvili ◽  
N. D. Savenkova ◽  
O. K. Gorkina ◽  
P. V. Pavlov ◽  
M. L. Zaharova ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Optic Disc ◽  
Clinical Case ◽  
Heart Defects ◽  
Charge Syndrome ◽  
Speech Development ◽  
Sensorineural Hearing ◽  
Dominant Type ◽  
Optic Disc Coloboma

The article provides literature data and description of the clinical case of CHARGE syndrome with an autosomal – dominant type of inheritance in a child of 3 years and 7 months. The name of the syndrome is formed by the first letters of the characteristic congenital malformations: “C” (coloboma) – optic disc coloboma, “H” (heart defects) – cardiovascular abnormalities, “A” (atresia of choanae) – atresia or stenosis of choan, “R” (retardation of growth and development) – growth deficit, developmental delay, “G” (genital anomalies) – genital anomalies, “E” (ear abnormalities and sensorineural hearing loss) – hearing organ abnormalities. A feature of the clinical case is the early diagnosis of CHARGE syndrome, manifested by bilateral optic disc coloboma; unilateral paresis of the facial nerve; congenital heart disease (open aortic duct); retardation of growth, psychomotor and psycho-speech development; cryptorchidism; bilateral anomaly of the outer ear (short, wide, absence of the lobe and external curl), sensorineural hearing loss; bilateral renal hypopalasia, chronic kidney disease.

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 ◽  
...  
Keyword(s):  
Optic Nerve ◽  
Optic Disc ◽  
Morning Glory ◽  
Morning Glory Syndrome ◽  
Optic Disc Coloboma ◽  
Optic Nerve Coloboma

Congenital optic disc coloboma

2021 ◽  
pp. 33-39
Author(s):  
A.O. Nazarenko ◽  
◽  
E.E. Sidorenko ◽  
D.V. Miguel ◽  
A.S. Smartsev ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Optic Nerve ◽  
Clinical Picture ◽  
Clinical Case ◽  
Charge Syndrome ◽  
Diagnostic Methods ◽  
Newly Diagnosed ◽  
Optic Nerve Atrophy ◽  
Optic Disc Coloboma ◽  
Optic Nerve Coloboma

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.

Optic Disc Drusen in Tilted Disc

2005 ◽  
Vol 15 (5) ◽  
pp. 647-651 ◽  
Author(s):  
G. Giuffrè
Keyword(s):  
Congenital Anomaly ◽  
Risk Factor ◽  
Optic Nerve ◽  
Optic Disc ◽  
Lamina Cribrosa ◽  
Nerve Fibers ◽  
Optic Disc Drusen ◽  
Fundus Photographs ◽  
Tilted Disc ◽  
Optic Nerve Drusen

Purpose To investigate if a congenital anomaly of the head of the optic nerve like such as tilted disc can be a risk factor for the development of optic disc drusen. Methods The study was performed retrospectively on the files of 47 patients with optic disc drusen. The diagnosis was confirmed by fluorescein angiography and B-scan ultrasonography. The authors examined the fundus photographs and the fluorescein angiographies of these patients looking for the presence of tilted discs. Results Two of the 47 patients with optic nerve drusen had tilted discs as well, about twice the expected rate. Both cases presented a parapapillary hemorrhage. Conclusions The concomitant presence of tilted disc and optic disc drusen can have a cause-effect relationship. The axonal crowding in a scleral canal of reduced size, as seen in tilted disc, can compress the nerve fibers against the stiff lamina cribrosa, producing a chronic optic neuropathy leading to drusen.

Prevalence of the optic disc anomalies in the adult South Indian population

2018 ◽  
Vol 103 (1) ◽  
pp. 94-98 ◽  
Author(s):  
Shikha Talwar Bassi ◽  
Ronnie George ◽  
Swarnali Sen ◽  
Rashima Asokan ◽  
Vijaya Lingam
Keyword(s):  
Optic Nerve ◽  
Optic Disc ◽  
Indian Population ◽  
Adult Population ◽  
Myelinated Nerve Fibre ◽  
South Indian Population ◽  
Optic Disc Pit ◽  
Myelinated Nerve ◽  
South Indian ◽  
Optic Disc Coloboma

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.

scholarly journals Intravitreal ranibizumab for the management of serous maculopathy secondary to optic disc coloboma-associated choroidal neovascularisation

2021 ◽  
Vol 14 (1) ◽  
pp. e235452
Author(s):  
Sarah Schimansky ◽  
Xia Ni Wu ◽  
Catherine Egan ◽  
Quresh Mohamed
Keyword(s):  
Optical Coherence Tomography ◽  
Optic Nerve ◽  
Optical Coherence Tomography Angiography ◽  
Structural Response ◽  
Choroidal Neovascularisation ◽  
Fundus Examination ◽  
Optical Coherence ◽  
Intravitreal Ranibizumab ◽  
Optic Disc Coloboma ◽  
Optic Nerve Coloboma

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.

Multimodal imaging of optic disc melanocytoma

2021 ◽  
pp. 112067212110106
Author(s):  
Cinzia Mazzini ◽  
Giulio Vicini ◽  
Cristina Nicolosi ◽  
Giulia Pieretti ◽  
Stanislao Rizzo
Keyword(s):  
Optical Coherence Tomography ◽  
Optic Disc ◽  
Multimodal Imaging ◽  
Fundus Autofluorescence ◽  
Case Series ◽  
Optical Coherence ◽  
Retrospective Case ◽  
Swept Source ◽  
Rule Out

Purpose: To describe the findings of four patients (four eyes) with optic disc melanocytoma (ODM), using multimodal imaging. Methods: Retrospective case series. Results: On ocular ultrasonography ODMs appeared as hyperechogenic lesions with moderate-to-high internal reflectivity. On blue-light fundus autofluorescence, ODMs showed total hypoautofluorescence, while, on infrared reflectance images appeared as bright and well-marginated lesions. MultiColor composite images showed reddish-brown lesions with well-defined margins. Swept-source optical coherence tomography revealed elevated lesions covering the optic disc with an irregular hyperreflective surface, dishomogeneous internal structure with hyperreflective dots, and posterior shadowing. In all cases optical coherence tomography angiography detected intratumoral blood vessels which were not detectable with fluorescein angiography. Conclusion: Multimodal imaging in ODM might be useful both at presentation, increasing the diagnostic accuracy, and at follow-up, providing helpful details, that can help to rule out the possibility of malignant transformation and other ocular complications.

scholarly journals Optic disc drusen presenting as papilledema: a case report

2014 ◽  
Vol 4 (1) ◽  
pp. 42-44
Author(s):  
S Sitaula ◽  
M Thapa ◽  
AK Sharma
Keyword(s):  
Optical Coherence Tomography ◽  
Optic Nerve ◽  
Optic Disc ◽  
Optic Nerve Head ◽  
Clinical Suspicion ◽  
Fundus Examination ◽  
Disc Edema ◽  
Medical College ◽  
Optic Disc Drusen ◽  
High Index Of Suspicion

Optic disc drusens, which are congenital anomalies of optic nerve head, are depositions of mucopolysaccharides and pro­teinaceous material within the optic nerve head. They are usually bilateral and diagnosed incidentally during routine fundus examination where they may be mistaken for papilledema. We report a case of 63 year old female referred to the neuro-ophthalmology department with the clinical suspicion of disc edema. Simple noninvasive investigations like ultrasound B-scan, fundus autofluorescene along with the newer test like spectral domain optical coherence tomography helped us to diagnose it as a case of pseudopapilledema, as optic disc drusen. Thus, a high index of suspicion along with the ancillary tests is helpful in differentiating optic disc drusen from true papilledema. DOI: http://dx.doi.org/10.3126/jcmc.v4i1.10848 Journal of Chitwan Medical College 2014; 4(1): 42-44

Structural and vascular features in cavitary congenital optic disc anomaly associated with metaphyseal acroscyphodysplasia

2021 ◽  
pp. 112067212199574
Author(s):  
Federica Fossataro ◽  
Luca D’Andrea ◽  
Gilda Cennamo
Keyword(s):  
Optical Coherence Tomography ◽  
Optic Disc ◽  
Systemic Disease ◽  
Wide Field ◽  
Fundus Examination ◽  
Optical Coherence ◽  
Optic Disc Coloboma ◽  
Retinal Epithelium ◽  
The Right ◽  
Optic Disc Anomaly

Purpose: To evaluate the radial peripapillary vascular plexus of a cavitary congenital optic disc anomaly in a young patient with recessive autosomal metaphyseal acroscyphodysplasia using optical coherence tomography angiography (OCTA). Methods: Observational case report. Results: A 17-year-old man, with diagnosis of metaphyseal acroscyphodysplasia was referred to Eye Clinic for fundus examination and multimodal imaging for retinal epithelium hypertrophy in the right eye. Clinical examination showed cup-shaped metaphyses, short stature, hyperthelorism, and telecanthus. An optic disc coloboma was detected in the right eye on fundus examination. Wide field en-face Optical Coherence Tomography (OCT) showed a hyporeflective area corresponding to the right optic disc coloboma. At OCTA examination, the whole papillary region revealed a rarefaction of the vascular network, while the ganglion cell complex’s and retinal fiber layers’ parameters were normal in both eyes. Conclusion: The presence of coloboma disc congenital defect linked to embryological abnormalities during the development process could pave the way for a wider understanding of the pathogenesis of metaphyseal acroscyphodysplasia by increasingly framing it as a systemic disease.

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