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.

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 Sertoli-Leydig Cell Tumour and DICER1 Mutation: A Case Report and Review of the Literature

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
B. Wormald ◽  
S. Elorbany ◽  
H. Hanson ◽  
J. W. Williams ◽  
S. Heenan ◽  
...  
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
Leydig Cell ◽  
Autosomal Dominant ◽  
Review Of The Literature ◽  
Autosomal Dominant Fashion ◽  
Rare Tumours ◽  
Leydig Cell Tumour ◽  
Underlying Pathology ◽  
Leydig Cell Tumours

Sertoli-Leydig cell tumours of the ovary (SLCT) are rare tumours predominantly caused by mutations in the DICER1 gene. We present a patient with a unilateral SLCT who had an underlying germline DICER1 gene mutation. We discuss the underlying pathology, risks, and screening opportunities available to those with a mutation in this gene as SLCT is only one of a multitude of other tumours encompassing DICER1 syndrome. The condition is inherited in an autosomal dominant fashion. As such, genetic counselling is a key component of the management of women with SLCT.

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

Resolution of Optic Disc Pit Maculopathy Following Posterior Vitreous Detachment

2021 ◽  
pp. 247412642110467
Author(s):  
Ali H. Mannaa ◽  
Reda A. Issa ◽  
J. Shepard Bryan
Keyword(s):  
Optic Disc ◽  
Posterior Vitreous Detachment ◽  
Interesting Case ◽  
Optic Disc Pit ◽  
Review Of The Literature ◽  
Fluid Accumulation ◽  
Optic Pit ◽  
Vitreous Detachment ◽  
Spontaneous Improvement ◽  
Optic Disc Pit Maculopathy

Purpose: This work presents a case of significant improvement of optic pit disc maculopathy following an acute posterior vitreous detachment (PVD) and discusses the possible mechanisms of this phenomenon. Methods: A case report and review of the literature are presented. Results: A 56-year-old man presenting with progressive visual decline in his left eye was found to have an optic disc pit with optical coherence tomography (OCT) evidence of severe intraretinal edema and maculoschisis. His visual acuity and macular anatomy on OCT improved dramatically in the months following a PVD. Conclusions: This report presents an interesting case of spontaneous improvement of optic disc pit–related maculopathy following PVD. We discuss the cause of the retinal fluid accumulation in optic disc pit maculopathy and consider that the OCT findings in our case lend credence to the theory that this fluid originates from the vitreous humor.

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 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 Mutation in Phospholipase C, δ1 (PLCD1) gene underlies hereditary leukonychia in a Pashtun family and review of the literature

2018 ◽  
Vol 21 (1) ◽  
pp. 69-72 ◽  
Author(s):  
AK Khan ◽  
SA Khan ◽  
Na Muhammad ◽  
No Muhammad ◽  
J Ahmad ◽  
...  
Keyword(s):  
Phospholipase C ◽  
Autosomal Dominant ◽  
Inheritance Pattern ◽  
Review Of The Literature ◽  
Autosomal Dominant Fashion ◽  
The Family ◽  
Characteristic Features ◽  
Hands And Feet ◽  
First Time ◽  
Toe Nails

AbstractHuman hereditary leukonychia is a rare nail disorder characterized by nail plates whitening on all finger and toe nails. Inheritance pattern is both autosomal dominant and recessive. To date, the only gene, phospholipase C, δ1 (PLCD1), on chromosome 3p22.2 has been reported to be involved in hereditary leukonychia. In the present study, a family of Pakhtun ethnicity, carrying leukonychia phenotype was investigated. The family inherited the phenotype in an autosomal dominant fashion. Affected individuals exhibited characteristic features of hereditary leukonychia with involvement of nails on both the hands and feet. Sequence analysis of DNA detected a p.Cys209Arg mutation, reported for the first time in a Pakistani Pashtun family.

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
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