High Prevalence of Mutations in theEYSGene in Japanese Patients with Autosomal Recessive Retinitis Pigmentosa

2012 ◽  
Vol 53 (2) ◽  
pp. 1033 ◽  
Author(s):  
Masaki Iwanami ◽  
Mio Oshikawa ◽  
Tomomi Nishida ◽  
Satoshi Nakadomari ◽  
Seishi Kato
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Japanese Patients ◽  
High Prevalence

scholarly journals Genetic Analysis for Two Italian Siblings with Usher Syndrome and Schizophrenia

2012 ◽  
Vol 2012 ◽  
pp. 1-6 ◽  
Author(s):  
Daniela Domanico ◽  
Serena Fragiotta ◽  
Paolo Trabucco ◽  
Marcella Nebbioso ◽  
Enzo Maria Vingolo
Keyword(s):  
Genetic Analysis ◽  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Genetic Factors ◽  
Psychiatric Symptoms ◽  
Genetic Disorders ◽  
Usher Syndrome ◽  
High Prevalence ◽  
Psychiatric Manifestations ◽  
The Relationship

Usher syndrome is a group of autosomal recessive genetic disorders characterized by deafness, retinitis pigmentosa, and sometimes vestibular areflexia. The relationship between Usher syndrome and mental disorders, most commonly a “schizophrenia-like” psychosis, is sometimes described in the literature. The etiology of psychiatric expression of Usher syndrome is still unclear. We reported a case of two natural siblings with congenital hypoacusis, retinitis pigmentosa, and psychiatric symptoms. Clinical features and genetic analysis were also reported. We analyzed possible causes to explain the high prevalence of psychiatric manifestations in Usher syndrome: genetic factors, brain damage, and “stress-related” hypothesis.

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 High prevalence of theW24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss

2005 ◽  
Vol 137A (3) ◽  
pp. 255-258 ◽  
Author(s):  
Araceli Álvarez ◽  
Ignacio del Castillo ◽  
Manuela Villamar ◽  
Luis A. Aguirre ◽  
Anna González-Neira ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Connexin 26 ◽  
Gene Encoding ◽  
High Prevalence ◽  
Syndromic Hearing Loss

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
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