scholarly journals Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual

2016 ◽  
Vol 57 (3) ◽  
pp. 940 ◽  
Author(s):  
Avigail Beryozkin ◽  
Gal Levy ◽  
Anat Blumenfeld ◽  
Segev Meyer ◽  
Prasanthi Namburi ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Retinitis Pigmentosa ◽  
Healthy Individual ◽  
Rhodopsin Gene

Further Screening of the Rhodopsin Gene in Patients with Autosomal Dominant Retinitis Pigmentosa

Genomics ◽  
1994 ◽  
Vol 21 (2) ◽  
pp. 461-463 ◽  
Author(s):  
Rajani Vaithinathan ◽  
Eliot L. Berson ◽  
Thaddeus P. Dryja
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Dominant ◽  
Autosomal Dominant Retinitis Pigmentosa ◽  
Rhodopsin Gene

scholarly journals Clinical and Genetic Analysis of a European Cohort with Pericentral Retinitis Pigmentosa

2019 ◽  
Vol 21 (1) ◽  
pp. 86 ◽  
Author(s):  
Marianthi Karali ◽  
Francesco Testa ◽  
Raffaella Brunetti-Pierri ◽  
Valentina Di Iorio ◽  
Mariateresa Pizzo ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Retinitis Pigmentosa ◽  
Ophthalmological Examination ◽  
Mild Phenotype ◽  
Atypical Form ◽  
Pathogenic Variants ◽  
Wide Range ◽  
Independent Families ◽  
Gene Panel Sequencing ◽  
Panel Sequencing

Retinitis pigmentosa (RP) is a clinically heterogenous disease that comprises a wide range of phenotypic and genetic subtypes. Pericentral RP is an atypical form of RP characterized by bone-spicule pigmentation and/or atrophy confined in the near mid-periphery of the retina. In contrast to classic RP, the far periphery is better preserved in pericentral RP. The aim of this study was to perform the first detailed clinical and genetic analysis of a cohort of European subjects with pericentral RP to determine the phenotypic features and the genetic bases of the disease. A total of 54 subjects from 48 independent families with pericentral RP, non-syndromic and syndromic, were evaluated through a full ophthalmological examination and underwent clinical exome or retinopathy gene panel sequencing. Disease-causative variants were identified in 22 of the 35 families (63%) in 10 different genes, four of which are also responsible for syndromic RP. Thirteen of the 34 likely pathogenic variants were novel. Intra-familiar variability was also observed. The current study confirms the mild phenotype of pericentral RP and extends the spectrum of genes associated with this condition.

Homozygous and heterozygous Gly-188-Arg mutation of the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa

2000 ◽  
Vol 21 (2) ◽  
pp. 79-87 ◽  
Author(s):  
Carlos Reig ◽  
Maria Martinez-Gimeno ◽  
Blanca Garcia-Sandoval ◽  
M. Teresa Calvo ◽  
Carmen Ayuso ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Dominant ◽  
Autosomal Dominant Retinitis Pigmentosa ◽  
Rhodopsin Gene

Retinitis Pigmentosa and the Rhodopsin Gene

1993 ◽  
Vol 33 (2) ◽  
pp. 219-228 ◽  
Author(s):  
Mohammad T. Shokravi ◽  
Thaddeus P. Dryja
Keyword(s):  
Retinitis Pigmentosa ◽  
Rhodopsin Gene

scholarly journals Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP)

1992 ◽  
Vol 37 (2) ◽  
pp. 125-132 ◽  
Author(s):  
Keiko Fujiki ◽  
Yoshihiro Hotta ◽  
Mutsuko Hayakawa ◽  
Hitoshi Sakuma ◽  
Takashi Shiono ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Dominant ◽  
Point Mutations ◽  
Autosomal Dominant Retinitis Pigmentosa ◽  
Rhodopsin Gene

Mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP)

1992 ◽  
Vol 55 ◽  
pp. 252
Author(s):  
H. Sakuma ◽  
Y. Hotta ◽  
M. Hayakawa ◽  
A. Nakajima ◽  
K. Fujiki ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Dominant ◽  
Autosomal Dominant Retinitis Pigmentosa ◽  
Rhodopsin Gene
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