Presentation of Complex Homozygous Allele inABCA4Gene in a Patient with Retinitis Pigmentosa-Reference-Cited by-同舟云学术

Presentation of Complex Homozygous Allele inABCA4Gene in a Patient with Retinitis Pigmentosa

Published:2015 Issue: Volume:2015 Page:1-3
ISSN:2090-6722
Container-title:Case Reports in Ophthalmological Medicine
language:en
Short-container-title:Case Reports in Ophthalmological Medicine

Author:

Audere Māreta¹,Rutka Katrīna¹,Šepetiene Svetlana²,Lāce Baiba¹

Affiliation:

1. Biomedical Research and Study Centre, Riga LV-1067, Latvia

2. Pauls Stradins Clinical University Hospital, Riga LV-1002, Latvia

Abstract

Retinitis pigmentosa is a degenerative retinal disease characterized by progressive photoreceptor damage, which causes loss of peripheral and night vision and the development of tunnel vision and may result in loss of central vision. This study describes a patient with retinitis pigmentosa caused by a mutation in theABCA4gene with complex allele c.1622T>C, p.L541P; c.3113C>T, p.A1038V in homozygous state.

Publisher

Hindawi Limited

Subject

Ocean Engineering

Link

http://downloads.hindawi.com/journals/criopm/2015/452068.pdf

Reference15 articles.

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3. Retinitis pigmentosa

4. Retinitis Pigmentosa and Progressive Sensorineural Hearing Loss Caused by a C12258A Mutation in the Mitochondrial MTTS2 Gene

5. Digenic Retinitis Pigmentosa Due to Mutations at the Unlinked Peripherin/ RDS and ROM1 Loci

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1. Major Contribution of c.[1622T>C;3113C>T] Complex Allele and c.5882G>A Variant in ABCA4-Related Retinal Dystrophy in an Eastern European Population;International Journal of Molecular Sciences;2023-11-12

2. Inherited retinal diseases: Linking genes, disease-causing variants, and relevant therapeutic modalities;Progress in Retinal and Eye Research;2021-11

3. Phenotype-genotype correlations in patients with inherited retinal diseases with p.G1961E mutation in the ABCA4 gene;Vestnik oftal'mologii;2019

4. Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort;International Journal of Molecular Sciences;2018-07-27

5. Identification of a novel mutation in the ABCA4 gene in a Chinese family with retinitis pigmentosa using exome sequencing;Bioscience Reports;2018-03-16