scholarly journals Rhodopsin mutations are scarcely implicated in autosomal recessive retinitis pigmentosa: A preliminary study of Egyptian retinitis pigmentosa patients

2015 ◽  
Vol 16 (4) ◽  
pp. 355-359
Author(s):  
Reem Mebed ◽  
Yasser B.M. Ali ◽  
Nahed Solouma ◽  
Amr Eldib ◽  
Mahmoud Amer ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Preliminary Study ◽  
Rhodopsin Mutations

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 Complexity of the Class B Phenotype in Autosomal Dominant Retinitis Pigmentosa Due to Rhodopsin Mutations

2016 ◽  
Vol 57 (11) ◽  
pp. 4847 ◽  
Author(s):  
Samuel G. Jacobson ◽  
David B. McGuigan ◽  
Alexander Sumaroka ◽  
Alejandro J. Roman ◽  
Michaela L. Gruzensky ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Dominant ◽  
Autosomal Dominant Retinitis Pigmentosa ◽  
Class B ◽  
Rhodopsin Mutations

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

Two cases of Sjogren-Larsson syndrome in the same family

1986 ◽  
Vol 67 (6) ◽  
pp. 459-459
Author(s):  
I. K. Kuzmin ◽  
R. P. Gubar ◽  
V. V. Vasilevskaya
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Epileptic Seizures ◽  
Spastic Diplegia ◽  
Variable Expression ◽  
High Penetrance ◽  
Larsson Syndrome

Sjоgren-Larsson syndrome is a hereditary disorder detected in the first months of a child's life. It is characterized by varying degrees of oligophrenia combined with spastic diplegia and congenital universal ichthyosis, and sometimes epileptic seizures, retinitis pigmentosa in the macula, dwarfism or giant growth, genital hypoplasia and anemia. Inheritance type is autosomal recessive with high penetrance and variable expression.

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