Congenital cavitary optic disc anomaly in Wolf-Hirschhorn Syndrome

2020 ◽  
Vol 2 (3) ◽  
Keyword(s):  
Optic Disc ◽  
Optic Disc Anomaly

High Myopia–Excavated Optic Disc Anomaly Associated With a Frameshift Mutation in the MYC-Binding Protein 2 Gene (MYCBP2)

2015 ◽  
Vol 159 (5) ◽  
pp. 973-979.e2 ◽  
Author(s):  
Cecilie Bredrup ◽  
Stefan Johansson ◽  
Laurence A. Bindoff ◽  
Pawel Sztromwasser ◽  
Jostein Kråkenes ◽  
...  
Keyword(s):  
Optic Disc ◽  
High Myopia ◽  
Frameshift Mutation ◽  
Binding Protein ◽  
Optic Disc Anomaly

Inherited or Congenital Optic Nerve Diseases

Visual Fields ◽  
2010 ◽  
Author(s):  
Peter A. Quiros ◽  
Alfredo A. Sadun
Keyword(s):  
Optic Nerve ◽  
Optic Disc ◽  
Case Reports ◽  
Visual Fields ◽  
Maternal Diabetes ◽  
Disc Center ◽  
Double Ring ◽  
Optic Nerve Diseases ◽  
Disc Size ◽  
Optic Disc Anomaly

In this chapter, we discuss inherited/congenital optic nerve diseases and their related visual fields defects. It is important for the ophthalmologist to establish, on the basis of the visual fields defect whether the optic nerve is involved and, if so, whether this is at the level of the optic disc or further back. In addition, the visual fields defect can help establish whether the etiology is acquired or congenital. If the former is the case, then the visual fields defect may reveal an insult that is rapidly progressive and hence requires immediate and aggressive management. The diseases are divided into the categories of congenital optic disc anomalies and heredodegenerative optic atrophies. Congenital optic disc anomalies include aplasias, dysplasias (hyperplasia and hypoplasia), optic nerve colobomas and pits, anomalous disc elevations: pseudopapilledema with or without hyaline bodies (drusen), and tilted disc and crescents. Absence of the optic disc (aplasia) is extremely rare and only a few case reports have been published in the literature. Optic disc size varies and may be larger (hyperplasia) or smaller (hypoplasia) than normal. Hyperplasia is much less common than hypoplasia and is usually related to ametropias. Optic nerve hypoplasia (ONH) may be unilateral or bilateral and isolated or associated with different syndromes. It may be associated with good or poor visual prognosis. It is the most common congenital optic disc anomaly encountered in pediatric ophthalmic practice. When the nerve head is slightly or segmentally reduced, especially in the presence of normal visual acuity, the diagnosis is based on comparison of disc photographs or calculation of the ratio of the disc center-to-fovea distance to disc diameter. Usually this ratio is increased in hypoplasia and, if higher than 3.0, is almost diagnostic. Sometimes the hypoplastic disc is surrounded by a ring of sclera and a ring of hyperpigmentation, described as “double-ring sign”. Maternal diabetes and use of teratogenic agents such as phenytoin, alcohol, quinine, and cocaine may be associated with ONH.

scholarly journals Congenital cavitary optic disc anomaly and Axenfeld’s anomaly in Wolf-Hirschhorn syndrome: A case report and review of the literature

2017 ◽  
Vol 39 (2) ◽  
pp. 271-274 ◽  
Author(s):  
Mohsin H. Ali ◽  
Nathalie F. Azar ◽  
Vinay Aakalu ◽  
Felix Y. Chau ◽  
Javaneh Abbasian ◽  
...  
Keyword(s):  
Case Report ◽  
Optic Disc ◽  
Review Of The Literature ◽  
Optic Disc Anomaly

Surgical approach and optic coherence tomographic evaluation of optic disc anomaly in association with serous macular detachment

2013 ◽  
Vol 33 (6) ◽  
pp. 721-724
Author(s):  
Dilek Güven ◽  
Nihal Balcıoğlu ◽  
Çağrı Türker ◽  
Yasemin Baydar ◽  
Yekta Şendül
Keyword(s):  
Optic Disc ◽  
Surgical Approach ◽  
Serous Macular Detachment ◽  
Macular Detachment ◽  
Optic Disc Anomaly

scholarly journals Role of the Epipapillary Membrane in Maculopathy Associated with Cavitary Optic Disc Anomalies: Morphology, Surgical Outcomes, and Histopathology

2018 ◽  
Vol 2018 ◽  
pp. 1-12 ◽  
Author(s):  
Atsushi Tanaka ◽  
Wataru Saito ◽  
Satoru Kase ◽  
Kan Ishijima ◽  
Kousuke Noda ◽  
...  
Keyword(s):  
Optic Disc ◽  
Surgical Outcomes ◽  
S100 Protein ◽  
Posterior Vitreous Detachment ◽  
Enhanced Depth Imaging ◽  
Protein Markers ◽  
Before And After ◽  
Pars Plana ◽  
Imaging Optical Coherence Tomography ◽  
Optic Disc Anomaly

Purpose. To evaluate the surgical outcomes of pars plana vitrectomy (PPV) with epipapillary membrane removal in patients with maculopathy associated with cavitary optic disc anomalies. Methods. Eight patients (8 eyes) with cavitary optic disc anomaly-associated maculopathy who underwent PPV with epipapillary membrane removal were retrospectively reviewed. The best-corrected visual acuity (BCVA) and macular and papillary morphologies using enhanced depth imaging optical coherence tomography (EDI-OCT) were evaluated before and after treatment. Immunohistochemistry for an intraoperatively excised epipapillary membrane tissue was also performed. Results. Before surgery, EDI-OCT revealed that epipapillary membrane was observed in all patients. Retinoschisis was resolved with no recurrence in all patients following vitrectomy regardless of a disease type or the presence or absence of preoperative posterior vitreous detachment. The mean final BCVA and central retinal thickness significantly improved compared with pretreatment values (P=0.008 and 0.004, resp.). Immunoreactivity for S100 protein and glial fibrillary acidic protein, markers of astrocytes, was positive in the resected membrane tissues. Conclusions. These results suggest that epipapillary membrane is involved in the pathogenesis of some patients with cavitary optic disc anomaly-associated maculopathy as well as posterior hyaloid membrane. PPV with epipapillary membrane removal may be a useful treatment option for this maculopathy. This trial is registered with UMIN000011123.

Morning Glory Optic Disc Anomaly

2013 ◽  
Vol 49 (6) ◽  
pp. 517 ◽  
Author(s):  
George N. Magrath ◽  
Edward W. Cheeseman ◽  
Robert A. Sarrica
Keyword(s):  
Optic Disc ◽  
Morning Glory ◽  
Optic Disc Anomaly

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.

scholarly journals Morning Glory Syndrome: An Unusual Optic Disc Anomaly

2017 ◽  
Vol 16 (04) ◽  
pp. 46-47
Author(s):  
Dr. Elivia N. Sangma ◽  
Dr. Poulomi Das ◽  
Dr. Anshuman Gahlot
Keyword(s):  
Optic Disc ◽  
Morning Glory ◽  
Morning Glory Syndrome ◽  
Optic Disc Anomaly
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