Severe retinitis pigmentosa with posterior staphyloma in a family with c.886C>A p.(Lys296Glu) RHO mutation-Reference-Cited by-同舟云学术

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Severe retinitis pigmentosa with posterior staphyloma in a family with c.886C>A p.(Lys296Glu) RHO mutation

Published:2019-07-04 Issue:4 Volume:40 Page:365-368
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Smirnov Vasily M.¹²^ORCID,Marks Caroline¹,Drumare Isabelle¹^ORCID,Defoort-Dhellemmes Sabine¹,Dhaenens Claire-Marie³

Affiliation:

1. Exploration of Vision and Neuro-Ophthalmology Department, Lille University Hospital, Lille, France

2. Faculté de Médecine, Université de Lille, Lille, France

3. Biochemistry and Molecular Biology Department ‐ UF Génopathies, Univ Lille, Lille, France

Publisher

Informa UK Limited

Subject

Genetics(clinical),Ophthalmology,Pediatrics, Perinatology, and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2019.1655771

Reference13 articles.

1. Proposed Classification of Posterior Staphylomas Based on Analyses of Eye Shape by Three-Dimensional Magnetic Resonance Imaging and Wide-Field Fundus Imaging

2. C21orf2is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium

3. A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma

4. Transducin Activation by Rhodopsin Without a Covalent Bond to the 11- Cis -Retinal Chromophore

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A pedigree with retinitis pigmentosa and its concomitant ophthalmic diseases;International Journal of Ophthalmology;2023-12-18

2. Relationship Between Macular Curvature and Common Causative Genes of Retinitis Pigmentosa in Japanese Patients;Investigative Opthalmology & Visual Science;2020-08-04

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