Cone Dystrophy in Patient with Homozygous RP1L1 Mutation
Joint Authors
Gocho, Kiyoko
Kikuchi, Sachiko
Kameya, Shuhei
Yamaki, Kunihiko
Takahashi, Hiroshi
Akeo, Keiichiro
Audo, Isabelle
Zeitz, Christina
El Shamieh, Said
Sugawara, Yuko
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-13, 13 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-01-29
Country of Publication
Egypt
No. of Pages
13
Main Subjects
Abstract EN
The purpose of this study was to determine whether an autosomal recessive cone dystrophy was caused by a homozygous RP1L1 mutation.
A family including one subject affected with cone dystrophy and four unaffected members without evidence of consanguinity underwent detailed ophthalmic evaluations.
The ellipsoid and interdigitation zones on the spectral-domain optical coherence tomography images were disorganized in the proband.
The proband had a reduced amplitude of cone and flicker full-field electroretinograms (ERGs).
Focal macular ERGs and multifocal ERGs were severely reduced in the proband.
A homozygous RP1L1 mutation (c.3628T>C, p.S1210P) was identified in the proband.
Family members who were heterozygous for the p.S1210P mutation had normal visual acuity and normal results of clinical evaluations.
To investigate other putative pathogenic variant(s), a next-generation sequencing (NGS) approach was applied to the proband.
NGS identified missense changes in the heterozygous state of the PCDH15, RPGRIP1, and GPR98 genes.
None of these variants cosegregated with the phenotype and were predicted to be benign reinforcing the putative pathogenicity of the RP1L1 homozygous mutation.
The AO images showed a severe reduction of the cone density in the proband.
Our findings indicate that a homozygous p.S1210P exchange in the RP1L1 gene can cause cone dystrophy.
American Psychological Association (APA)
Kikuchi, Sachiko& Kameya, Shuhei& Gocho, Kiyoko& El Shamieh, Said& Akeo, Keiichiro& Sugawara, Yuko…[et al.]. 2015. Cone Dystrophy in Patient with Homozygous RP1L1 Mutation. BioMed Research International،Vol. 2015, no. 2015, pp.1-13.
https://search.emarefa.net/detail/BIM-1055893
Modern Language Association (MLA)
Kikuchi, Sachiko…[et al.]. Cone Dystrophy in Patient with Homozygous RP1L1 Mutation. BioMed Research International No. 2015 (2015), pp.1-13.
https://search.emarefa.net/detail/BIM-1055893
American Medical Association (AMA)
Kikuchi, Sachiko& Kameya, Shuhei& Gocho, Kiyoko& El Shamieh, Said& Akeo, Keiichiro& Sugawara, Yuko…[et al.]. Cone Dystrophy in Patient with Homozygous RP1L1 Mutation. BioMed Research International. 2015. Vol. 2015, no. 2015, pp.1-13.
https://search.emarefa.net/detail/BIM-1055893
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1055893