Syndromic Retinitis Pigmentosa
Saul Merin in Inherited Eye Diseases, 2005
For many years, ophthalmologists were well aware of the fact that in some cases, retinitis pigmentosa is associated with extraocular abnormalities. Well-known examples were the polydactyly and other abnormalities of what is now called Bardet-Biedl syndrome or the hearing impairment of Usher syndrome. Mutational analysis will detect that some syndromic retinitis pigmentosa (RP) entities and isolated RP are all caused by mutations of the same genes. These will usually be mutation-specific, meaning that the same gene with a different disease-bearing mutation will cause isolated RP, while another mutation will cause a disease included in syndromic RP. In other entities, the disease results from a specific, distinct gene.
Detecting novel mutations and combined Klinefelter syndrome in Usher syndrome cases
Published in Acta Oto-Laryngologica, 2019
Xiaohong Li, Shasha Huang, Yongyi Yuan, Yu Lu, Dejun Zhang, Xiaobin Wang, Huijun Yuan, Weiju Han, Pu Dai
Background: Usher syndrome (USH) is an autosomal recessive disease characterized by hearing loss, vision loss, and occasionally vestibular dysfunction. Klinefelter syndrome (KS) is an X chromosome polyploidy characterized by one or more additional X chromosomes in males. To date, there has been no report of USH combined with KS. Objectives: This study examined the causative genes in three Chinese probands with congenital hearing loss. Material and methods: Targeted next-generation sequencing (NGS) was performed to identify mutations in three probands with hearing loss. Low-coverage whole-genome sequencing (WGS) analysis of aneuploidy was used to verify the chromosome aneuploidy. Results: Four novel MYO7A mutations were identified in two USH1 probands who were initially diagnosed with nonsyndromic hearing loss until the onset of vision loss. Another case was initially diagnosed with nonsyndromic hearing loss and USH2 and KS were discovered incidentally after the genetic analysis. Conclusions: Our findings expand the mutation spectrum of MYO7A. This is also the first report of concomitant USH and KS. Genetic testing can help with clinical management, particularly if an unrecognized syndromic disorder is identified before the onset of additional symptoms. A clinical genetic evaluation is recommended as part of the diagnostic work-up in congenital hearing loss.
Usher syndrome: a review of the clinical phenotype, genes and therapeutic strategies
Published in Expert Review of Ophthalmology, 2015
Maria Toms, Maria Bitner-Glindzicz, Andrew Webster, Mariya Moosajee
Usher syndrome (USH) is the most common cause of deaf–blindness in humans. It is a clinically and genetically heterogeneous disorder, for which 10 causative genes have been identified so far. The USH genes encode a number of structurally and functionally distinct proteins that form complexes in the inner ear and retina essential for hearing and vision. Animal studies have indicated that the hearing loss associated with USH mainly results from abnormal development of the hair bundle, the mechanoreceptive organelle of the sensory hair cells. In contrast, the molecular and cellular mechanisms underlying the USH visual impairment remain unclear. Although a cure for USH is not yet available, a host of promising therapeutic studies have made progress toward developing an effective treatment for the retinal defects associated with USH. This review provides an outline of the genes and proteins underlying USH, their interactions and functions in the inner ear and retina, and the therapeutic strategies that are under investigation as potential treatments for this disease.
Life strategies of people with deafblindness due to Usher syndrome type 2a - a qualitative study
Published in International Journal of Qualitative Studies on Health and Well-being, 2019
Mattias Ehn, Agneta Anderzén-Carlsson, Claes Möller, Moa Wahlqvist
Purpose: To explore life strategies in people with Usher syndrome type 2a. Background: There are no studies on life strategies in people with Usher syndrome. People with deafblindness are often described in terms of poor health and low quality of life, or as being vulnerable. From a clinical point of view, it is of importance to balance this picture, with an increased knowledge of life strategies. Methods: The study had a qualitative explorative design. Fourteen people aged 20–64 years (4 women, 10 men) with USH2a in Sweden participated in focus group interviews, which were transcribed and analysed by qualitative content analysis. Results: The content analysis resulted in seven categories; remaining active, using devices, using support, sharing knowledge, appreciating the present, maintaining a positive image and alleviating emotional pain. Two sub-themes: resolve or prevent challenges and comforting oneself was abstracted forming a theme “being at the helm”. Conclusion: The findings show that people with USH2a have a variety of life strategies that can be interpreted as highlighting different aspects of psychological flexibility in a life adjustment process. The study demonstrates that people with USH2a manage in many ways, and metaphorically, by “taking the helm”, they strive to actively navigate towards their own chosen values.
Related Knowledge Centers
- Auditory Nerve
- Cochlea
- Retinitis Pigmentosa
- Deaf-Blind Disorders
- Cone Photoreceptors
- Rod Photoreceptors
- II