scholarly journals Stem cells for investigation and treatment of inherited retinal disease

2014 ◽  
Vol 23 (R1) ◽  
pp. R9-R16 ◽  
Author(s):  
B. A. Tucker ◽  
R. F. Mullins ◽  
E. M. Stone
Keyword(s):  
Stem Cells ◽  
Retinal Disease ◽  
Inherited Retinal Disease

scholarly journals Patient derived stem cells for discovery and validation of novel pathogenic variants in inherited retinal disease

2020 ◽  
pp. 100918 ◽  
Author(s):  
Nathaniel K. Mullin ◽  
Andrew P. Voigt ◽  
Jessica A. Cooke ◽  
Laura R. Bohrer ◽  
Erin R. Burnight ◽  
...  
Keyword(s):  
Stem Cells ◽  
Retinal Disease ◽  
Pathogenic Variants ◽  
Inherited Retinal Disease

Stem cells: a source for neuron repair in retinal disease

2007 ◽  
Vol 42 (3) ◽  
pp. 442-446 ◽  
Author(s):  
Valerie A. Wallace
Keyword(s):  
Stem Cells ◽  
Retinal Disease

scholarly journals Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with CNGA3-Associated Autosomal Recessive Achromatopsia

2021 ◽  
Vol 22 (15) ◽  
pp. 7842
Author(s):  
Susanne Kohl ◽  
Britta Baumann ◽  
Francesca Dassie ◽  
Anja K. Mayer ◽  
Maria Solaki ◽  
...  
Keyword(s):  
Segregation Analysis ◽  
Molecular Genetic ◽  
Retinal Disease ◽  
Underlying Mechanism ◽  
Recurrence Risk ◽  
Molecular Genetic Analysis ◽  
Recessive Mutation ◽  
Chromosome 2 ◽  
Inherited Retinal Disease ◽  
Uniparental Isodisomy

Achromatopsia (ACHM) is a rare autosomal recessively inherited retinal disease characterized by congenital photophobia, nystagmus, low visual acuity, and absence of color vision. ACHM is genetically heterogeneous and can be caused by biallelic mutations in the genes CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, or ATF6. We undertook molecular genetic analysis in a single female patient with a clinical diagnosis of ACHM and identified the homozygous variant c.778G>C;p.(D260H) in the CNGA3 gene. While segregation analysis in the father, as expected, identified the CNGA3 variant in a heterozygous state, it could not be displayed in the mother. Microsatellite marker analysis provided evidence that the homozygosity of the CNGA3 variant is due to partial or complete paternal uniparental isodisomy (UPD) of chromosome 2 in the patient. Apart from the ACHM phenotype, the patient was clinically unsuspicious and healthy. This is one of few examples proving UPD as the underlying mechanism for the clinical manifestation of a recessive mutation in a patient with inherited retinal disease. It also highlights the importance of segregation analysis in both parents of a given patient or especially in cases of homozygous recessive mutations, as UPD has significant implications for genetic counseling with a very low recurrence risk assessment in such families.

scholarly journals A qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Marlies Saelaert ◽  
Heidi Mertes ◽  
Tania Moerenhout ◽  
Caroline Van Cauwenbergh ◽  
Bart P. Leroy ◽  
...  
Keyword(s):  
Qualitative Study ◽  
Interpretative Phenomenological Analysis ◽  
Age Of Onset ◽  
Genetic Diseases ◽  
Retinal Disease ◽  
Clinical Approach ◽  
Inherited Retinal Disease ◽  
Illness Experiences ◽  
Meaning Structure ◽  
Main Components

AbstractExome-based testing for genetic diseases can reveal unsolicited findings (UFs), i.e. predispositions for diseases that exceed the diagnostic question. Knowledge of patients’ interpretation of possible UFs and of motives for (not) wanting to know UFs is still limited. This lacking knowledge may impede effective counselling that meets patients’ needs. Therefore, this article examines the meaning of UFs from a patient perspective. A qualitative study was conducted and an interpretative phenomenological analysis was made of 14 interviews with patients with an inherited retinal disease. Patients assign a complex meaning to UFs, including three main components. The first component focuses on result-specific qualities, i.e. the characteristics of an UF (inclusive of actionability, penetrance, severity and age of onset) and the consequences of disclosure; the second component applies to a patient’s lived illness experiences and to the way these contrast with reflections on presymptomatic UFs; the third component addresses a patient’s family embedding and its effect on concerns about disease prognosis and genetic information’s family relevance. The complex meaning structure of UFs suggests the need for counselling procedures that transcend a strictly clinical approach. Counselling should be personalised and consider patients’ lived illness experiences and family context.

scholarly journals Methodological Challenges in the Economic Evaluation of a Gene Therapy for RPE65-Mediated Inherited Retinal Disease: The Value of Vision

2021 ◽  
Vol 39 (4) ◽  
pp. 383-397
Author(s):  
Simone A. Huygens ◽  
Matthijs M. Versteegh ◽  
Stefan Vegter ◽  
L. Jan Schouten ◽  
Tim A. Kanters
Keyword(s):  
Gene Therapy ◽  
Economic Evaluation ◽  
Retinal Disease ◽  
Inherited Retinal Disease ◽  
Methodological Challenges

Endpoints for Measuring Efficacy in Clinical Trials for Inherited Retinal Disease

2021 ◽  
Vol 61 (4) ◽  
pp. 63-78
Author(s):  
Daniel C. Chung ◽  
David G. Birch ◽  
Robert E. MacLaren
Keyword(s):  
Clinical Trials ◽  
Retinal Disease ◽  
Inherited Retinal Disease

scholarly journals Artificial intelligence for diagnosis of inherited retinal disease: an exciting opportunity and one step forward

2021 ◽  
pp. bjophthalmol-2021-319365
Author(s):  
Tien-En Tan ◽  
Hwei Wuen Chan ◽  
Mandeep Singh ◽  
Tien Yin Wong ◽  
Jose S Pulido ◽  
...  
Keyword(s):  
Artificial Intelligence ◽  
Retinal Disease ◽  
Inherited Retinal Disease ◽  
Exciting Opportunity ◽  
One Step

PDE6B Mutation-associated Inherited Retinal Disease

2021 ◽  
Vol 61 (4) ◽  
pp. 133-142
Author(s):  
Séverine Marconi ◽  
John T. Stout
Keyword(s):  
Retinal Disease ◽  
Inherited Retinal Disease
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