scholarly journals Optic nerve coloboma

2019 ◽  
Vol 2 (2) ◽  
pp. 7-8
Author(s):  
Roxana Gabriela Chis ◽  
Alina Gheorghe ◽  
Marian Burcea

A 20 years old female presented for a routine eye examination. Her best corrected visual acuity (BCVA) was OU - 20/20 Snellen chart. Fundoscopy of the right eye revealed a massive optic disc coloboma with no other associated abnormalities. Fundoscopy of the left eye revealed a normal eye fundus. Optic nerve coloboma is a congenital condition caused by incomplete closure of embryonic fissure. It usually occurs bilaterally, autosomal dominantly inherited, or sporadic cases. Serous macular detachment and visual field loss can be frequently observed in this condition. It can also be associated with other colobomas (lens, cilliary body and choroid), microphtalmos, retinal dysplasia, or can be part of systemic anomalies like Aicardi syndrome, Meckel syndrome and CHARGE association, with poor visiual prognosis. Subjects with isolated optic nerve coloboma, with no other associated abnormalities, like this case, can have excellent visual prognosis.

Author(s):  
Homayoun Nikkhah ◽  
Iman Ansari ◽  
Kiana Hassanpour

Optic disc pits are rare and congenital or acquired anomalies of the optic disc, usually remaining asymptomatic. However, serous macular detachment or optic disc maculopathy is the most common complication, causing significant visual deterioration, without a current consensus about treatment. A 55-year-old woman with a past medical history of diabetes mellitus and systemic hypertension was referred for an abnormal finding in the retina. The Corrected Distance Visual Acuity (CDVA) was 20/40 in the right eye and 20/30 in the left eye. Marcus-Gunn was negative and Slit-lamp biomicroscopy revealed no pathologic findings in both eyes. Funduscopic examination showed an excavation in the inferotemporal part of the Optic Nerve Head (ONH) with serous macular detachment extending to the optic disc. Based on clinical examination and paraclinical imaging fluorescein Angiogeraphy (FAG) Optical Coherence Tomography (OCT), optic pit maculopathy was diagnosed and the patient underwent Juxtapapillary Laser Photocoagulation (JLP). After 2 years of follow-up, there were anatomical and functional improvements.


2020 ◽  
pp. 112067212094270
Author(s):  
Ahmad Al-Moujahed ◽  
Natalia F Callaway ◽  
Cassie A Ludwig ◽  
Nadim Rayess ◽  
Edward Wood ◽  
...  

Background: Aicardi syndrome is an X-linked condition that is associated with multiple ophthalmic malformations. Here, we report the first published fluorescein angiography (FA) study of a morning glory optic nerve in a patient with Aicardi syndrome and contralateral persistent fetal vasculature (PFV). Case description: A 12-day old full-term baby girl with a normal neurological exam was referred for evaluation of microphthalmia. The posterior segment of the right eye demonstrated chorioretinal lacunae typical of Aicardi syndrome and microphthalmos with a stalk consistent with PFV. The right eye imaging could not be captured due to the severe microphthalmos and cataract, however, fluorescein angioscopy was performed. The left eye demonstrated a morning glory appearing optic disc with peripapillary chorioretinal lacunae. Fluorescein angiography of the eye showed and late staining in the areas of ellipsoid chorioretinal lacunae emanating from the optic nerve and extensive peripapillary staining and late leakage of the optic nerve. Conclusion: Patients with Aicardi syndrome can have morning glory optic nerve anomaly and PFV. Using FA under anesthesia to detect these abnormalities help in estimating the extend of the disease and its complications, which allows for better management of the complications.


2003 ◽  
Vol 45 (2) ◽  
pp. 71-76 ◽  
Author(s):  
Mutlu Sağlam ◽  
Üzeyir Erdem ◽  
Murat Kocaoğlu ◽  
Cem Tayfun ◽  
Taner Üçöz ◽  
...  

2014 ◽  
Vol 49 (2) ◽  
pp. e56-e59
Author(s):  
Daniel E. Maidana ◽  
Silvia Sanz ◽  
Juan Lillo ◽  
Jorge Arruga

2017 ◽  
Vol 2017 ◽  
pp. 1-20 ◽  
Author(s):  
L. Vasović ◽  
M. Trandafilović ◽  
S. Vlajković ◽  
G. Djordjević ◽  
M. Daković-Bjelaković ◽  
...  

Morphological characteristics of 108 cases of uni- and bilateral aplasia of the vertebral artery (VA) in reports or images of retrospective studies, including one recent case, published between 1967 and 2016 are analyzed. Incidence, gender, persistence of carotid-vertebrobasilar anastomosis (CVBA), associated with other vascular variants, and vascular pathology in each group of uni- and bilateral VA aplasia are mutually compared. Most of the cases of VA aplasia in ages 31 to 80 were discovered in USA, Japan, and India. The bilateral VA aplasia is more common in the male gender than in the female one. The side of the VA aplasia had a significant effect on the side of CVBA persistence. Associated aplasia of other arteries was more common in cases of unilateral VA aplasia. The left VA was more commonly hypoplastic in cases of single right VA aplasia than the right VA in cases of single left VA aplasia. Aneurysms of definitive arteries were more frequent in cases of single right VA aplasia than in cases of single left VA aplasia. We claim that the aplasia of the VA probably depends on genetic factors in some races, while diseases are expressed usually in persons over 30 years of age.


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.


1991 ◽  
Vol 28 (5) ◽  
pp. 274-277
Author(s):  
Robert E Wiggins ◽  
Gunter K von Noorden ◽  
Milton Boniuk

2000 ◽  
Vol 15 (2) ◽  
pp. 75-78
Author(s):  
Gerald P Melchor ◽  
Alice G Brandfonbrener

This report documents a congenital condition previously undescribed in a young musician. Uncommon and affecting between 1% and 2% of the general population, camptodactyly is an atraumatic, congenital flexion deformity of the proximal interphalangeal (PIP) joint of the finger, most often the right little finger, as seen in our patient.1 While this condition is not normally of great significance, except when present as part of a wider syndrome, its occurrence as described in this case report has great implications for musicians in that it may have detrimental effects on their ability to perform. Attempts at surgical correction of such a defect, in itself controversial, might further affect a musician’s ability to return to performance as well as to continue studying his or her instrument.


2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
S. Cutting ◽  
C. Davies-Husband ◽  
C. Poitelea

The majority of cases of orbital emphysema are due to trauma. Complications are rare, and therefore, the need for surgical intervention is uncommon. We present the first case of which we are aware in which nontraumatic orbital emphysema led to orbital compartment syndrome and subsequent optic nerve dysfunction. The patient underwent emergency needle decompression. A 51-year-old man presented to the Emergency Department with right-sided unilateral proptosis, reduced visual acuity, and binocular diplopia. This occurred after performing a Valsalva manoeuvre with no history of head trauma. He also mentioned that over the past year he had experienced multiple episodes of transient proptosis occurring after Valsalva manoeuvres. Visual acuity in the right eye was reduced to 6/21. A relative afferent pupillary defect was present and intraocular pressure (IOP) was 12 mmHg. The CT scan showed significant orbital emphysema in the medial aspect of the right orbit. Needle decompression was performed resulting in immediate resolution of his symptoms. This case demonstrates that, in cases of orbital emphysema, a lack of a history of trauma and a normal IOP cannot always be used to rule out serious pathology.


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