scholarly journals Bilateral Optic Disc Pit with Maculopathy Case Report

2019 ◽  
Vol 75 (2) ◽  
pp. 86-90
Author(s):  
Veronika Radošová ◽  
Inka Krejčířová ◽  
Rudolf Autrata ◽  
Barbora Žajdlíková
Keyword(s):  
Optic Nerve ◽  
Optic Disc ◽  
Autosomal Dominant ◽  
Surgical Intervention ◽  
Asymptomatic Patient ◽  
Optic Disc Pit ◽  
Dominant Inheritance ◽  
Pars Plana ◽  
Therapeutic Possibilities ◽  
Autosomal Dominant Inheritance Pattern

An optic disc pit is a rare congenital anomaly of the optic nerve disc. It occurs rarely, and in case of its bilateral occurance, it can be caused by an autosomal dominant inheritance pattern. Ophthalmoscopically, the disc pit appears as an ovoid depression of the optic nerve disc. When identified unilaterally, the optic nerve disc is usually larger than the disc of the other healthy eye. Optic disc pits can be located anywhere in optic disc. Moreover, when located in the temporal margin, they can be accompanied by a maculopathy. The latest therapeutic possibilities include the retinal laser photocoagulation and pars plana vitrectomy, however the prognosis quoad visum neverthelles remains poor. This report deals with bilateral occurance of the optic disc pit in case of 9-year-old asymptomatic patient. The patient had been transferred to our ophthalmology department with suspected retinal detachment. Following the examination, the optic disc pit was diagnosed. The patient remains subject to further observation, however, owing to his current satisfactory vision without the need for a surgical intervention.

scholarly journals Familial Disorders of the Optic Disc: Presentation of a Mother and Daughter and Review of the Literature

2015 ◽  
Vol 6 (2) ◽  
pp. 251-259
Author(s):  
Chia Lee Hsu ◽  
Christopher J. Layton
Keyword(s):  
Optic Nerve ◽  
Optic Disc ◽  
Autosomal Dominant ◽  
Optic Disc Pit ◽  
Review Of The Literature ◽  
Autosomal Dominant Fashion ◽  
Mother And Daughter ◽  
Dominant Disease ◽  
Familial Disorders ◽  
Optic Nerve Coloboma

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.

The inner diameter of the optic disc pit decreases with pars plana vitrectomy

2012 ◽  
Vol 33 (2) ◽  
pp. 199-201 ◽  
Author(s):  
Eylem Yaman Pinarci ◽  
Humeyra Karacal ◽  
Banu Oncel ◽  
Sezin Akca Bayar ◽  
Muharrem Karakaya
Keyword(s):  
Optic Disc ◽  
Pars Plana Vitrectomy ◽  
Optic Disc Pit ◽  
Pars Plana ◽  
Inner Diameter

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.

Long-Term Changes of Macular Thickness after Pars Plana Vitrectomy in Optic Disc Pit Maculopathy: A Spectral-Domain Optical Coherence Tomography Study

2015 ◽  
Vol 32 (3) ◽  
pp. 302-308 ◽  
Author(s):  
Irini Chatziralli ◽  
George Theodossiadis ◽  
Dimitrios Panagiotidis ◽  
Ioannis Emfietzoglou ◽  
Vlassis Grigoropoulos ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Optic Disc ◽  
Pars Plana Vitrectomy ◽  
Spectral Domain ◽  
Optical Coherence ◽  
Optic Disc Pit ◽  
Long Term Changes ◽  
Pars Plana ◽  
Optic Disc Pit Maculopathy

scholarly journals Ocular imaging findings of bilateral optic disc pit in a child

2013 ◽  
Vol 5 (2) ◽  
pp. 258-261 ◽  
Author(s):  
Abdullah Ozkaya ◽  
Z Alkin ◽  
AT Taylan ◽  
A Demirok
Keyword(s):  
Visual Acuity ◽  
Optic Nerve ◽  
Nerve Fiber ◽  
Optic Disc ◽  
Anterior Segment ◽  
Rare Condition ◽  
Optic Disc Pit ◽  
Fiber Layer ◽  
Retinal Nerve Fiber

Background: To report a rare condition of bilateral optic disc pit in a child. Case description: A ten-year-old female was admitted with a complaint of headache. Visual acuity was 20/20 in both eyes (OU). Anterior segment examination was normal in OU. Fundus examination revealed optic disc pit (ODP) located temporally with a diameter of 1/5 disc diameter in OU. Intraocular pressure was within normal limits in both eyes. Macular optical coherence tomography (OCT) showed a loss of retinal tissue at the site corresponding to the ODP in both eyes. Retinal nerve fiber OCT revealed decreased RNFL thickness at the temporal side of the optic nerve, corresponding to the ODP in both eyes. The patient and patient’s parents were informed about the disease and called for follow-up examinations every 6 months. In addition, the family was informed about optic pit maculopathy (OPM) and, they were told to return immediately if the patient ever complained of decreased vision in either of her eyes. After a follow-up period of 12 months, visual acuity remained stable, and no complications secondary to ODP were detected. Conclusion: Optic disc pit is diagnosed incidentally unless it is complicated with OPM. The retinal nerve fiber layer thickness is decreased at the side of the optic nerve corresponding to the ODP. Nepal J Ophthalmol 2013; 5(10): 258-261 DOI: http://dx.doi.org/10.3126/nepjoph.v5i2.8739

scholarly journals Insight into the autosomal-dominant inheritance pattern of SOD1-associated ALS from native mass spectrometry

2020 ◽  
Author(s):  
Jelena Cveticanin ◽  
Tridib Mondal ◽  
Elizabeth M. Meiering ◽  
Michal Sharon ◽  
Amnon Horovitz
Keyword(s):  
Mass Spectrometry ◽  
Autosomal Dominant ◽  
Native Mass Spectrometry ◽  
Autosomal Dominant Inheritance ◽  
Coupling Constant ◽  
Inheritance Pattern ◽  
Wild Type ◽  
Dominant Inheritance ◽  
Mutant Sod1 ◽  
Autosomal Dominant Inheritance Pattern

AbstractAbout 20% of all familial amyotrophic lateral sclerosis (ALS) cases are associated with mutations in superoxide dismutase (SOD1), a homodimeric protein. The disease has an autosomal-dominant inheritance pattern. It is, therefore, important to determine whether wild-type and mutant SOD1 subunits self-associate randomly or preferentially. A measure for the extent of bias in subunit association is the coupling constant determined in a double-mutant cycle type analysis. Here, cell lysates containing co-expressed wild-type and mutant SOD1 subunits were analyzed by native mass spectrometry to determine these coupling constants. Strikingly, we find a linear positive correlation between the coupling constant and the duration of the disease. Our results indicate that inter-subunit communication and a preference for heterodimerization greatly increase the disease severity.

scholarly journals Optic Nerve Sheath Meningocele with Optic Disc Pit

2020 ◽  
Vol 61 (7) ◽  
pp. 843-847
Author(s):  
Sun Young Ryu ◽  
Jiwon Kim ◽  
Hye Young Kim
Keyword(s):  
Optic Nerve ◽  
Optic Disc ◽  
Optic Nerve Sheath ◽  
Optic Disc Pit ◽  
Nerve Sheath

Optic Nerve Sheath Meningocele With Optic Disc Pit

2019 ◽  
pp. 1
Author(s):  
Divya Harshwardhan Jain ◽  
Veena Olma Noronha ◽  
Bipasha Mukherjee
Keyword(s):  
Optic Nerve ◽  
Optic Disc ◽  
Optic Nerve Sheath ◽  
Optic Disc Pit ◽  
Nerve Sheath

Pattern Dystrophies

2021 ◽  
pp. 208-212
Keyword(s):  
Visual Acuity ◽  
Older Patients ◽  
Autosomal Dominant ◽  
Specific Treatment ◽  
Dominant Inheritance ◽  
Choroidal Neovascular Membrane ◽  
Good Visual Acuity ◽  
Retinal Atrophy ◽  
Pigment Distribution ◽  
Autosomal Dominant Inheritance Pattern

Pattern dystrophies have been known since 1950 which have autosomal dominant inheritance pattern. Pattern dystrophies have been classified based on the pattern of the pigment distribution. Despite significant retinal changes, good visual acuity is often maintained. However, complications such as choroidal neovascular membrane and retinal atrophy may develop in older patients and can significantly decrease visual acuity. There is no specific treatment, but when complications arise, treatment should be done by reason.

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