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Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

Clinical course of a Japanese girl with Leber congenital amaurosis associated with a novel nonsense pathogenic variant in NMNAT1: a case report and mini review

2022 ◽  
pp. 1-9
Author(s):  
Tomoyasu Kayazawa ◽  
Kazuki Kuniyoshi ◽  
Yoshikazu Hatsukawa ◽  
Kaoru Fujinami ◽  
Kazutoshi Yoshitake ◽  
...  
Keyword(s):  
Case Report ◽  
Clinical Course ◽  
Pathogenic Variant ◽  
Leber Congenital Amaurosis

Portuguese translation and linguistic validation of the Michigan Retinal Degeneration Questionnaire and the Michigan Vision-Related Anxiety Questionnaire in a cohort with inherited retinal degenerations

2022 ◽  
pp. 1-3
Author(s):  
João Pedro Marques ◽  
Luís Bernardes ◽  
Carolina Oliveira ◽  
Gabriela Fonseca ◽  
João Quadrado Gil ◽  
...  
Keyword(s):  
Retinal Degeneration ◽  
Linguistic Validation ◽  
Retinal Degenerations ◽  
Anxiety Questionnaire

Prevalence of ocular anomalies is increased in women with polycystic ovary syndrome—exploration of association with PAX6 genotype

2022 ◽  
pp. 1-4
Author(s):  
Zheyuan Zong ◽  
Shirin Kalyan ◽  
Cameron Andres ◽  
Sueda Akkor ◽  
Jerilynn C. Prior ◽  
...  
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Polycystic Ovary ◽  
Ovary Syndrome

Astrocytic hamartoma in a patient heterozygous for RIM1 mutation associated-retinal dystrophy

2022 ◽  
pp. 1-4
Author(s):  
Yi-Ran Chiou ◽  
Hui-Chen Cheng ◽  
An-Guor Wang
Keyword(s):  
Retinal Dystrophy ◽  
Astrocytic Hamartoma

Penetrance of MYOC gene mutation in primary open-angle glaucoma: A systematic review and meta-analysis

2022 ◽  
pp. 1-8
Author(s):  
Juan-Juan Xie ◽  
Guo-Wei Zhang ◽  
Hai-Yue Cui ◽  
Na Li ◽  
Xing-Xing Liu ◽  
...  
Keyword(s):  
Systematic Review ◽  
Gene Mutation ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Meta Analysis ◽  
Open Angle

An extended phenotype of RP1L1 maculopathy – case report

2021 ◽  
pp. 1-8
Author(s):  
George J. Manayath ◽  
Mayur Rokdey ◽  
Shishir Verghese ◽  
Ratnesh Ranjan ◽  
V. R. Saravanan ◽  
...  
Keyword(s):  
Case Report ◽  
Extended Phenotype

Photoaversion in inherited retinal diseases: clinical phenotypes, biological basis, and qualitative and quantitative assessment

2021 ◽  
pp. 1-9
Author(s):  
Serena Zaman ◽  
Thomas Kane ◽  
Mohamed Katta ◽  
Michalis Georgiou ◽  
Michel Michaelides
Keyword(s):  
Quantitative Assessment ◽  
Retinal Diseases ◽  
Biological Basis ◽  
Qualitative And Quantitative ◽  
Clinical Phenotypes

OTX2 mutation associated with severe myopia in a Canadian family

2021 ◽  
pp. 1-3
Author(s):  
Snow Wangding ◽  
Samantha Colaiacovo ◽  
Inas Makar ◽  
Maha Saleh

A homozygous in-frame duplication within the LRRCT consensus sequence of CFAP410 causes cone-rod dystrophy, macular staphyloma and short stature

2021 ◽  
pp. 1-7
Author(s):  
Ning Chiu ◽  
Winston Lee ◽  
Pei-Kang Liu ◽  
Sarah R Levi ◽  
Hung-Hsi Wang ◽  
...  
Keyword(s):  
Short Stature ◽  
Consensus Sequence ◽  
Frame Duplication

PRPH2-Associated Macular Dystrophy in 4 Family Members with a Novel Mutation

2021 ◽  
pp. 1-5
Author(s):  
Hanna Choi ◽  
Alan Cloutier ◽  
David Lally
Keyword(s):  
Novel Mutation ◽  
Family Members ◽  
Macular Dystrophy
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