scholarly journals Inherited retinal disorders in South Africa and the clinical impact of evolving technologies

2016 ◽  
Vol 106 (6) ◽  
pp. 33 ◽  
Author(s):  
L Roberts ◽  
R Goliath ◽  
G Rebello ◽  
S Bardien ◽  
A V September ◽  
...  
Keyword(s):  
South Africa ◽  
Clinical Impact ◽  
Retinal Disorders ◽  
Inherited Retinal Disorders

scholarly journals A Mild Phenotype Caused by Two Novel Compound Heterozygous Mutations in CEP290

Genes ◽  
2020 ◽  
Vol 11 (11) ◽  
pp. 1240
Author(s):  
Agnieszka Rafalska ◽  
Anna M. Tracewska ◽  
Anna Turno-Kręcicka ◽  
Milena J. Szafraniec ◽  
Marta Misiuk-Hojło
Keyword(s):  
Vision Loss ◽  
Compound Heterozygous ◽  
Loss Of Function ◽  
Mild Phenotype ◽  
Cone Function ◽  
Retinal Disorders ◽  
Molecular Inversion Probes ◽  
Disease Experience ◽  
The Individual ◽  
Inherited Retinal Disorders

CEP290 is a ciliary gene frequently mutated in ciliopathies, resulting in a broad range of phenotypes, ranging from isolated inherited retinal disorders (IRDs) to severe or lethal syndromes with multisystemic involvement. Patients with non-syndromic CEP290-linked disease experience profound and early vision loss due to cone-rod dystrophy, as in Leber congenital amaurosis. In this case report, we describe two novel loss-of-function heterozygous alterations in the CEP290 gene, discovered in a patient suffering from retinitis pigmentosa using massive parallel sequencing of a molecular inversion probes library constructed for 108 genes involved in IRDs. A milder phenotype than expected was found in the individual, which serves to prove that some CEP290-associated disorders may display preserved cone function.

Microperimetry in Three Inherited Retinal Disorders

2019 ◽  
Vol 34 (4) ◽  
pp. 334-339 ◽  
Author(s):  
Laura Bagdonaite-Bejarano ◽  
Ronald M. Hansen ◽  
Anne B. Fulton
Keyword(s):  
Retinal Disorders ◽  
Inherited Retinal Disorders

scholarly journals Mobile HIV Screening in Cape Town, South Africa: Clinical Impact, Cost and Cost-Effectiveness

PLoS ONE ◽  
2014 ◽  
Vol 9 (1) ◽  
pp. e85197 ◽  
Author(s):  
Ingrid V. Bassett ◽  
Darshini Govindasamy ◽  
Alison S. Erlwanger ◽  
Emily P. Hyle ◽  
Katharina Kranzer ◽  
...  
Keyword(s):  
South Africa ◽  
Cost Effectiveness ◽  
Cape Town ◽  
Clinical Impact ◽  
Hiv Screening ◽  
Impact Cost

scholarly journals Gene and cell-based therapies for inherited retinal disorders: An update

2016 ◽  
Vol 172 (4) ◽  
pp. 349-366 ◽  
Author(s):  
Jesse D. Sengillo ◽  
Sally Justus ◽  
Yi-Ting Tsai ◽  
Thiago Cabral ◽  
Stephen H. Tsang
Keyword(s):  
Retinal Disorders ◽  
Inherited Retinal Disorders

scholarly journals Novel Homozygous TULP1 and RPE65 Variants Underlies Recessive Retinitis Pigmentosa

2020 ◽  
Author(s):  
Amjad Khan ◽  
Xiao Bai ◽  
Muhammad Umair ◽  
Shirui Han ◽  
Xiaerbati Habulieti ◽  
...  
Keyword(s):  
Data Analysis ◽  
Retinitis Pigmentosa ◽  
Molecular Mechanisms ◽  
Mutation Screening ◽  
Missense Variant ◽  
Disease Phenotype ◽  
Whole Exome ◽  
Retinal Disorders ◽  
Pakistani Families ◽  
Inherited Retinal Disorders

Retinitis pigmentosa (RP) clinically and genetically heterogeneous group of inherited retinal disorders (IRD) that result in retinal degeneration. This study aimed to identify the genetic findings of patients with autosomal recessive retinitis pigmentosa (arRP). Whole exome sequencing (WES) was performed in two unrelated Pakistani families underlying arRP. Data analysis and mutation screening was performed for all the known RP genes following bi-directional Sanger sequencing to determine whether any of the candidate variants co-segregated with the disease phenotype in the families. WES data analysis revealed a novel homozygous missense variant (c.1274T>C) in the in Tubby like Protein 1 (TULP1 NM_003322.6) gene in family 1 and a novel homozygous frameshift variant (c.351delC) in the retinoid isomerohydrolase 65 (RPE65 NM_000329.3) gene in family 2. The identified variants perfectly co-segregated with the disease phenotype within the families. Our results strongly suggest that mutations in TULP1 and RPE65 are responsible for the retinal phenotype in the affected individuals. These mutations will increase the mutation spectrum of these genes; furthermore, it will enhance our knowledge and understanding of the underlying molecular mechanisms of retinitis pigmentosa.

scholarly journals Care Pathway of RPE65-Related Inherited Retinal Disorders from Early Symptoms to Genetic Counseling: A Multicenter Narrative Medicine Project in Italy

2021 ◽  
Vol Volume 15 ◽  
pp. 4591-4605
Author(s):  
Francesca Simonelli ◽  
Andrea Sodi ◽  
Benedetto Falsini ◽  
Giacomo Bacci ◽  
Giancarlo Iarossi ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Care Pathway ◽  
Narrative Medicine ◽  
Early Symptoms ◽  
Retinal Disorders ◽  
Inherited Retinal Disorders
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