scholarly journals Nystagmus in Laurence-Moon-Biedl Syndrome

2015 ◽  
Vol 2015 ◽  
pp. 1-3
Author(s):  
A. Bruce Janati ◽  
Naif Saad ALGhasab ◽  
Fazal Haq ◽  
Ahmad Abdullah ◽  
Aboubaker Osman
Keyword(s):  
Optic Nerve ◽  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Congenital Nystagmus ◽  
Ocular Albinism ◽  
Previous Hypothesis ◽  
Ocular Media ◽  
Motor Abnormality ◽  
Sensory Defect

Introduction. Laurence-Moon-Biedl (LMB) syndrome is a rare autosomal-recessive ciliopathy with manifold symptomatology. The cardinal clinical features include retinitis pigmentosa, obesity, intellectual delay, polydactyly/syndactyly, and hypogenitalism. In this paper, the authors report on three siblings with Laurence-Moon-Biedl syndrome associated with a probable pseudocycloid form of congenital nystagmus.Methods. This was a case study conducted at King Khaled Hospital.Results. The authors assert that the nystagmus in Laurence-Moon-Biedl syndrome is essentially similar to idiopathic motor-defect nystagmus and the nystagmus seen in optic nerve hypoplasia, ocular albinism, and bilateral opacities of the ocular media.Conclusion. The data support the previous hypothesis that there is a common brain stem motor abnormality in sensory-defect and motor-defect nystagmus.

A Dermatoglyphics Study of Retinitis Pigmentosa– A Case Study

2012 ◽  
Vol 3 (5) ◽  
pp. 5-6
Author(s):  
Dr. Chandan Kumar Sinha ◽  
◽  
Amminabhavi Nazia Banu Nurahmad ◽  
Yogita Mallu Kattimani
Keyword(s):  
Retinitis Pigmentosa

Management of Optic Neuritis in Ayurveda - A Special Case Report

2018 ◽  
Vol 3 (5) ◽  
Author(s):  
Dr. Harsha S. ◽  
Dr. Mamatha KV.
Keyword(s):  
Optic Nerve ◽  
Optic Neuritis ◽  
Visual Information ◽  
Vision Loss ◽  
Specific Treatment ◽  
Interesting Case ◽  
Treatment Modalities ◽  
Further Development ◽  
Special Case

The optic nerve carries visual information from your eye to your brain. Optic neuritis is when your optic nerve becomes inflamed. Optic neuritis can flare up suddenly from an infection or nerve disease. The inflammation usually causes temporary vision loss that typically happens in only one eye. Those with Optic neuritis sometimes experience pain. As you recover and the inflammation goes away, your vision will likely return. There are no direct references in our classics regarding optic neuritis but can be contemplated as a condition by name Parimlayi Timira. The specific management as such is not cited but a transcendence approach can be done with adopting the treatment which has the ability to pacify the already occurred pathology and prevent the further development of the disease. One such interesting case study on Optic neuritis is elaborated here where in specific treatment modalities (Shodana, Shamana and Kriyakalpas) played role in pacifying the condition.

Clinical spectrum, genetic associations and management outcomes of Coats-like exudative retinal vasculopathy in autosomal recessive retinitis pigmentosa

2021 ◽  
pp. 1-8
Author(s):  
Moustafa Magliyah ◽  
Abdulaziz A. Alshamrani ◽  
Patrik Schatz ◽  
Ibrahim Taskintuna ◽  
Yahya Alzahrani ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Clinical Spectrum ◽  
Genetic Associations

scholarly journals A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33.

1998 ◽  
Vol 35 (2) ◽  
pp. 141-145 ◽  
Author(s):  
M Bayes ◽  
B Goldaracena ◽  
A Martinez-Mir ◽  
M I Iragui-Madoz ◽  
T Solans ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive

scholarly journals Autosomal Recessive Retinitis Pigmentosa Caused by Mutations in theMAKGene

2011 ◽  
Vol 52 (13) ◽  
pp. 9665 ◽  
Author(s):  
Edwin M. Stone ◽  
Xunda Luo ◽  
Elise Héon ◽  
Byron L. Lam ◽  
Richard G. Weleber ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive

scholarly journals Novel Null Mutations in theEYSGene Are a Frequent Cause of Autosomal Recessive Retinitis Pigmentosa in the Israeli Population

2010 ◽  
Vol 51 (9) ◽  
pp. 4387 ◽  
Author(s):  
Dikla Bandah-Rozenfeld ◽  
Karin W. Littink ◽  
Tamar Ben-Yosef ◽  
Tim M. Strom ◽  
Itay Chowers ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Israeli Population

scholarly journals Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa

2017 ◽  
Vol 27 (4) ◽  
pp. 614-624 ◽  
Author(s):  
Monika Weisz Hubshman ◽  
Sanne Broekman ◽  
Erwin van Wijk ◽  
Frans Cremers ◽  
Alaa Abu-Diab ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Autosomal Recessive ◽  
Novel Gene ◽  
Whole Exome

Case Study 192 Advanced Optic Nerve Cupping

2013 ◽  
pp. 433-433
Author(s):  
Roger P. Harrie ◽  
Cynthia J. Kendall
Keyword(s):  
Optic Nerve
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