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

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 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

Mutations in PDE6A, the Gene Encoding the α-Subunit of Rod Photoreceptor Cgmp-Specific Phosphodiesterase, are Rare in Autosomal Recessive Retinitis Pigmentosa

1997 ◽  
pp. 237-244 ◽  
Author(s):  
M. Meins ◽  
A. Janecke ◽  
C. Marschke ◽  
M. J. Denton ◽  
G. Kumaramanickavel ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Rod Photoreceptor ◽  
Gene Encoding ◽  
Α Subunit

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.

Autosomal recessive posterior column ataxia and retinitis pigmentosa

Neurology ◽  
1998 ◽  
Vol 51 (6) ◽  
pp. 1772-1773 ◽  
Author(s):  
J. Berciano ◽  
J. M. Polo
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Posterior Column

scholarly journals Laurence Moon Bardet Biedle Syndrome

2018 ◽  
Vol 30 (1) ◽  
pp. 41-43
Author(s):  
Md Nazrul Islam ◽  
Shamima Akhter ◽  
SM Kamal ◽  
Sabikun Nahar Chowdhury
Keyword(s):  
Retinitis Pigmentosa ◽  
Clinical Features ◽  
Male Patient ◽  
Autosomal Recessive ◽  
Wide Spectrum ◽  
Genetic Disorder ◽  
Learning Difficulties ◽  
Multiple Systems ◽  
Truncal Obesity ◽  
Characteristic Features

Laurence Moon Bardet Biedle syndrome is a rare, autosomal recessive genetic disorder involving multiple systems and has wide spectrum of clinical features. Characteristic features of this disorder are retinitis pigmentosa, polydactyly, truncal obesity and learning difficulties. It may also be associated with hypogonadism in male and complex genitourinary abnormalities in female. We present a case of 33 years male patient having obesity, decreased vision, polydactyly, hypogonadism and retinitis pigmentosa. These clinical features are consistent with Laurence Moon Bardet Biedle syndrome.Medicine Today 2018 Vol.30(1): 41-43

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