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Disease Category: autosomal recessive

Patient Population:

Active Clinical Trials: 3 Recruiting

Treatment Options: Cochlear Implants (hearing)

Strategies to Preserve Eye Health: lutein

Institution(s) Conducting Research:

ProQR, Retina Foundation Southwest, Univ Wisconsin, Moorfields Eye Hospital London




Louisiana, U.S.


Microdeletions Glu767(1-bp del), Thr967(1-bp del), and Leu1446(2-bp del) in the human USH2A gene have been reported to cause Usher syndrome type II, a disorder characterized by retinitis pigmentosa (RP) and mild-to-severe hearing loss. Each of these three frameshift mutations is predicted to lead to an unstable mRNA transcript that, if translated, would result in a

truncated protein lacking . . .

Identification of novel USH2A mutations in patients with autosomal recessive retinitis pigmentosa via targeted next‑generation sequencing

Xiong Zhu, Xiao Li, Wanli Tian, Yeming Yang, Kuanxiang Sun, Shuzhen Li, Xianjun Zhu |Molecular Medicine Reports | 20 Apr 2022 | 193-200 |

Retinitis pigmentosa (RP) is a group of inheritable blindness retinal diseases characterized by the death of photoreceptor cells and a gradual loss of peripheral vision. Mutations in Usher syndrome type 2 (USH2A) have been reported in RP with or without hearing loss. The present study aimed to identify causative mutations in a cohort of families with RP from China. 

Disease Course in Patients with Autosomal Recessive Retinitis Pigmentosa due to the USH2A Gene

Michael A. Sandberg, Bernard Rosner, Carol Weigel-DiFranco, Terri L. McGee, Thaddeus P. Dryja, Eliot L. Berson | Investigative Ophthal & Visual Science | Dec 2008 | Vol.49 | 5532 - 5539 |

On average, USH2A patients lose visual acuity faster than RHO patients and slower than RPGR patients. USH2A patients lose visual field and cone electroretinogram amplitude faster than patients with RHO or RPGR mutations. Patients with a nonsyndromic USH2A mutation have the same retinal disease course as patients with syndromic USH2A disease.

Mutation screening of the USH2A gene in retinitis pigmentosa and USHER patients in a Han Chinese population

Lulin Huang, Yao Mao, Jiyun YangYuanfeng Li

Yang Li, Zhenglin Yang | Nature Eye | 13 Jun 2018 | 1608–1614 |

USH2A encodes for usherin, a basement membrane protein in the inner ear and retina. USH2A can cause retinitis pigmentosa (RP) with or without hearing loss. The aim of this study was to detect USH2A mutations in a Chinese cohort of 75 small RP families and 10 Usher syndrome families.

Conclusions:  Our results revealed six novel mutations in the USH2A gene in a Chinese population, which is beneficial for the clinical use of genetic testing of USH2A in patients with autosomal-recessive or sporadic RP and Usher syndrome.

Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations

Kalyan Dulla, Ralph Slijkerman, Hester C. van Diepen, Silvia Albert, Margo Dona, Wouter Beumer, Janne J. Turunen, Hee Lam Chan, Iris A. Schulkens, Lars Vorthoren, Cathaline den Besten, Levi Buil, Iris Schmidt, Jiayi Miao,  Hanka Venselaar, Jingjing Zang, Stephan C. F. Neuhauss, Theo Peters, Sanne Broekman, Ronald Pennings, Hannie Kremer, Gerard Platenburg, Peter Adamson, Erikde Vrieze, Erwinvan Wijk | Molecular TherapyVol. 29, Issue 8 | 2021 Aug 4 | Pages 2441-2455

In this study, we explored AON-induced exon skipping as a potential treatment modality for patients with RP caused by mutations in exon 13 of the USH2A gene. As this exon consists of a multiplier of three nucleotides, skipping the exon does not disturb the open reading frame and could result in the production of a shortened protein with predicted residual function. With the use of use of our previously characterized ush2armc1 zebrafish model, 14 we demonstrate that usherin lacking the amino acids encoded by exon

13 has sufficient 


Faces of USH2A

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United Kingdom



United States



United States




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