scholarly journals Angioid Streaks in Pseudoxanthoma Elasticum

Cureus ◽  
2021 ◽  
Author(s):  
Rahaf A Mandura ◽  
Rwan E Radi
Keyword(s):  
Pseudoxanthoma Elasticum ◽  
Angioid Streaks

Disk Drusen and Angioid Streaks in Pseudoxanthoma Elasticum

1991 ◽  
Vol 112 (2) ◽  
pp. 166-170 ◽  
Author(s):  
Kate Coleman ◽  
Monique Hope Ross ◽  
Mary Mc Cabe ◽  
Rosemary Coleman ◽  
David Mooney
Keyword(s):  
Pseudoxanthoma Elasticum ◽  
Angioid Streaks

scholarly journals ABCC6 Gene Analysis in 20 Japanese Patients with Angioid Streaks Revealing Four Frequent and Two Novel Variants and Pseudodominant Inheritance

2017 ◽  
Vol 2017 ◽  
pp. 1-7 ◽  
Author(s):  
Satoshi Katagiri ◽  
Yuya Negishi ◽  
Kei Mizobuchi ◽  
Mitsuyoshi Urashima ◽  
Tadashi Nakano ◽  
...  
Keyword(s):  
Medical Records ◽  
Sanger Sequencing ◽  
Pseudoxanthoma Elasticum ◽  
Japanese Patients ◽  
Compound Heterozygous ◽  
Angioid Streaks ◽  
Dermatological Examination ◽  
Abcc6 Gene ◽  
Novel Variants ◽  
Unknown Significance

Purpose. To report the spectrum of ABCC6 variants in Japanese patients with angioid streaks (AS). Patients and Methods. This was a single-center cohort study. The medical records of 20 patients with AS from 18 unrelated Japanese families were retrospectively reviewed. Screening of the ABCC6 gene (exons 1 to 31) was performed using PCR-based Sanger sequencing. Results. Eight ABCC6 variants were identified as candidate disease-causing variants. These eight variants included five known variants (p.Q378X, p.R419Q, p.V848CfsX83, p.R1114C, and p.R1357W), one previously reported variant (p.N428S) of unknown significance, and two novel variants (c.1939C>T [p.H647Y] and c.3374C>T [p.S1125F]); the three latter variants were determined to be variants of significance. The following four variants were frequently identified: p.V848CfsX83 (14/40 alleles, 35.0%), p.Q378X (7/40 alleles, 17.5%), p.R1357W (6/40 alleles, 15.0%), and p.R419Q (4/40 alleles, 10.0%). The ABCC6 variants were identified in compound heterozygous or homozygous states in 13 of 18 probands. Two families showed a pseudodominant inheritance pattern. Pseudoxanthoma elasticum was seen in 15 of 17 patients (88.2%) who underwent dermatological examination. Conclusions. We identified disease-causing ABCC6 variants that were in homozygous or compound heterozygous states in 13 of 18 families (72.2%). Our results indicated that ABCC6 variants play a significant role in patients with AS in the Japanese population.

Angioid streaks beyond pseudoxanthoma elasticum

2010 ◽  
Vol 88 ◽  
pp. 0-0
Author(s):  
J DE ZAEYTIJD ◽  
OM VANAKKER ◽  
PJ COUCKE ◽  
A DE PAEPE ◽  
BP LEROY
Keyword(s):  
Pseudoxanthoma Elasticum ◽  
Angioid Streaks

MULTIMODAL IMAGING OF FOCAL CHOROIDAL EXCAVATION COMPLICATED BY CHOROIDAL NEOVASCULARIZATION IN A PATIENT WITH ANGIOID STREAKS AND PSEUDOXANTHOMA ELASTICUM

2018 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Bruno Fortaleza de Aquino Ferreira ◽  
Rony Carlos Preti ◽  
Marina Brandão Schmidt ◽  
Leandro Cabral Zacharias ◽  
Walter Yukihiko Takahashi ◽  
...  
Keyword(s):  
Choroidal Neovascularization ◽  
Multimodal Imaging ◽  
Pseudoxanthoma Elasticum ◽  
Angioid Streaks ◽  
Focal Choroidal Excavation

Pseudoxanthoma elasticum-like skin lesions and angioid streaks in β-thalassemia

1992 ◽  
Vol 41 (3) ◽  
pp. 159-164 ◽  
Author(s):  
Athanasios Aessopos ◽  
Panayotis Savvides ◽  
George Stamatelos ◽  
Thomas Tassiopoulos ◽  
Phaedon Kaklamanis ◽  
...  
Keyword(s):  
Pseudoxanthoma Elasticum ◽  
Skin Lesions ◽  
Angioid Streaks
Sign in / Sign up

Export Citation Format

Share Document