A novel deletion mutation in GUCY2D gene may be responsible for Leber congenital amaurosis-1 disease: A case report

PURPOSETo investigate genetic mutation(s) underlying retinal degeneration in a male patient. METHODSA seven-year-old male patient was referred to receive genetic counseling and molecular testing. Clinical examination was performed by slit-lamp examination and electroretinography (ERG). Molecular tes...

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Bibliographic Details
Published in:Journal of current ophthalmology 2019, Vol.31 (4), p.458-462
Main Authors: Salehi Chaleshtori, Ahmad Reza, Garshasbi, Masoud, Salehi, Ali
Format: Report
Language:English
Online Access:Get full text
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Summary:PURPOSETo investigate genetic mutation(s) underlying retinal degeneration in a male patient. METHODSA seven-year-old male patient was referred to receive genetic counseling and molecular testing. Clinical examination was performed by slit-lamp examination and electroretinography (ERG). Molecular testing was undertaken through arrayed-primer extension (APEX) and Sanger sequencing. RESULTSSlit-lamp examination and flat ERG were in favor of Leber congenital amaurosis (LCA) disease as well as fundus findings. The genetic screening revealed two novel homozygote deletion and duplication variants in intron 15 and exon 16 of the GUCY2D gene. Segregation analysis in the family supports the probable contribution of these two novel mutations in clinical representations of the patient. CONCLUSIONSThis report provides more information about LCA disease and its relevant mutations in Iran. Considering the overlapping phenotypes observed in retinal degenerative disorders, comprehensive molecular testing is needed for precise diagnosis.
ISSN:2452-2325
2452-2325
DOI:10.1016/j.joco.2019.07.002