scholarly journals Retinitis Pigmentosa Associated with Bardet-Biedl Syndrome with BBS9 Gene Mutation in a Korean Patient

2020 ◽  
Vol 34 (1) ◽  
pp. 94
Author(s):  
Yong Hoon Kim ◽  
Kwang Sic Joo ◽  
Moon-Woo Seong ◽  
Sung Sup Park ◽  
Se Joon Woo
Keyword(s):  
Retinitis Pigmentosa ◽  
Gene Mutation ◽  
Bardet Biedl Syndrome ◽  
Korean Patient

scholarly journals A 13-year-old Female with Bardet- Biedl Syndrome - A Case Report

2015 ◽  
Vol 26 (1) ◽  
pp. 31-34
Author(s):  
Syed Nesar Ahmed ◽  
Md Abu Shahin ◽  
Romal Chowdhury ◽  
Alamgir Mustak Ahammad ◽  
Md Nahiduzzaman Shazzad ◽  
...  
Keyword(s):  
Case Report ◽  
Retinitis Pigmentosa ◽  
Rare Disease ◽  
Clinical Features ◽  
Night Blindness ◽  
Learning Difficulties ◽  
Laboratory Findings ◽  
Bardet Biedl Syndrome

Bardet Biedl syndrome is a rare disease. A case report is presented here where a 13 years old girl presented with obesity, night blindness, learning difficulties and polydactyly. Obesity and night blindness started from since childhood. Her milestones of development were normal but having some learning difficulties. Her parents are healthy as well as her siblings. On examination she looks apathy, extreme obese, having polydactyly and retinitis pigmentosa and high B.P. On laboratory findings there is only dyslipidaemia. On the basis of clinical features she was diagnosed as a case of Bardet-Biedl syndrome.Bangladesh J Medicine Jan 2015; 26 (1) : 31-34

scholarly journals Usher syndrome gene mutation spectrum in Russian patients

2020 ◽  
pp. 38-39
Author(s):  
М.Е. Иванова ◽  
А.М. Демчинский ◽  
В.С. Каймонов ◽  
И.В. Миронова ◽  
И.В. Володин ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Retinitis Pigmentosa ◽  
Gene Mutation ◽  
Clinical Diagnosis ◽  
Usher Syndrome ◽  
Gene Mutations ◽  
Mutation Spectrum ◽  
Initial Sample ◽  
New Mutations

Изучение спектра мутаций и совершенствование диагностики синдрома Ашера (СА) особо актуальны в связи с разрабатываемыми подходами к генной терапии заболевания. Среди 46 пациентов с признаками СА патогенные мутации выявлены нами у 40 (87%) пациентов. СА I и II типов определены у 26% и 57% пробандов исходной выборки, соответственно. У пациентов с СА I выявлены мутации в генах MYO7A (73%), CDH23 (7%), PCDH15 (7%), и USH1C (13%). Наибольшую частоту показала мутация MYO7A p.Q18*. Описано 6 новых мутаций в гене MYO7A, и две - в гене PCDH15. У пациентов с СА II выявлена 21 мутация гена USH2A, 5 из которых описаны впервые. Наибольшую частоту показала мутация USH2A p.W3955*. У двух пациентов выявлены мутации в генах несиндромального пигментного ретинита RHO и RPGR, что позволило уточнить клинический диагноз. Studying the mutation spectrum and improvement of molecular verification of the Usher syndrome (USH) are of particular relevance as gene therapy emerges. Among 46 patients with signs of Usher syndrome we identified mutations in 40 (85%) patients, establishing a diagnosis of USH1 and USH2 for 26% and 57% of the probands of the initial sample, respectively. Patients with USH1 showed mutations in the MYO7A (73%), CDH23 (7%), PCDH15 (7%), and USH1C (13%) genes. MYO7A p.Q18* mutation showed the highest frequency. We have identified 6 new mutations in the MYO7A gene, and 2 in the PCDH15 gene. In USH2 patients, 21 USH2A gene mutations were identified, 5 of which are novel. The USH2A mutation p.W3955* was most frequent. Two patients showed mutations in the non-syndromic retinitis pigmentosa genes RHO and RPGR, which made it possible to clarify the clinical diagnosis.

Retinal Diseases with Ciliopathies

2021 ◽  
pp. 271-278
Keyword(s):  
Retinitis Pigmentosa ◽  
Outer Segment ◽  
Usher Syndrome ◽  
Joubert Syndrome ◽  
Retinal Diseases ◽  
Bardet Biedl Syndrome ◽  
Retinal Photoreceptors ◽  
Underlying Mechanisms ◽  
Larsson Syndrome ◽  
Functional Defects

Ciliopathies are a group of diseases that affects cells containing the cilia organel. Retinal involvement is frequent in ciliopathies. The outer segment of retinal photoreceptors is composed of the cilium. Functional defects limited to the photoreceptors cilia, in particular, are classified as non-syndromic ciliopathies like Leber congenital amaurosis and retinitis pigmentosa. Photoreceptor disease also manifests as a part of syndromic ciliopathies with the involvement of multiple tissues as Usher syndrome, Joubert syndrome, Meckel-Gruber syndrome, Senior-Loken syndrome, Sjögren-Larsson syndrome, Bardet-Biedl syndrome, and Alstrom syndrome. Underlying mechanisms of pathology remain largely unclear in these diseases. Symptoms are treated using current methods. This paper describes the pathogenesis, clinics, diagnosis, and treatment of retinal diseases occurring due to ciliopathy.

scholarly journals Bardet-Biedl Syndrome in rhesus macaques: A nonhuman primate model of retinitis pigmentosa

2019 ◽  
Vol 189 ◽  
pp. 107825 ◽  
Author(s):  
Samuel M. Peterson ◽  
Trevor J. McGill ◽  
Teresa Puthussery ◽  
Jonathan Stoddard ◽  
Lauren Renner ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Nonhuman Primate ◽  
Rhesus Macaques ◽  
Nonhuman Primate Model ◽  
Primate Model ◽  
Bardet Biedl Syndrome

scholarly journals Novel Ferritin Light Chain Gene Mutation in a Korean Patient with Neuroferritinopathy

2019 ◽  
Vol 12 (1) ◽  
pp. 63-65 ◽  
Author(s):  
So Hoon Yoon ◽  
Nan Young Kim ◽  
Yun Joong Kim ◽  
Chul Hyoung Lyoo
Keyword(s):  
Gene Mutation ◽  
Light Chain ◽  
Chain Gene ◽  
Light Chain Gene ◽  
Korean Patient

scholarly journals Novel codon 15 RHO gene mutation associated with retinitis pigmentosa

2018 ◽  
Vol Volume 11 ◽  
pp. 339-344
Author(s):  
Manuel AP Vilela ◽  
Roberta K Menna Barreto ◽  
Pedro K Menna Barreto ◽  
Juliana MF Sallum ◽  
Vanessa S Mattevi
Keyword(s):  
Retinitis Pigmentosa ◽  
Gene Mutation

A Novel CNGA1 Gene Mutation (c.G622A) of Autosomal Recessive Retinitis Pigmentosa Leads to the CNGA1 Protein Reduction on Membrane

2019 ◽  
Vol 57 (4) ◽  
pp. 540-554 ◽  
Author(s):  
Qing Gao ◽  
Yifan Liu ◽  
Xinlan Lei ◽  
Qinqin Deng ◽  
Yongqing Tong ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Gene Mutation ◽  
Autosomal Recessive ◽  
Protein Reduction
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