Oguchi disease caused by a homozygous novel SAG splicing alteration associated with the multiple evanescent white dot syndrome: A 15-month follow-up

Liu, Xiao; Gao, Lixia; Wang, Gang; Long, Yanling; Ren, Jiayun; Fujinami, Kaoru; Meng, Xiangjun; Li, Shiying

doi:10.1007/s10633-020-09766-z

Cited by 4 publications

(9 citation statements)

References 30 publications

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“…Electroretinography (ERG) is unusual in patients with Oguchi disease. In typical patients, the ERG data show reduced a-waves and b-waves [ 1 , 23 ]. After prolonged dark adaption, insufficient rod function can be recorded in the first flash, and it disappears in a moment [ 1 , 24 ].…”

Section: Discussionmentioning

confidence: 99%

“…In typical patients, the ERG data show reduced a-waves and b-waves [ 1 , 23 ]. After prolonged dark adaption, insufficient rod function can be recorded in the first flash, and it disappears in a moment [ 1 , 24 ]. The increment of ERG a-wave amplitude in younger patients is larger than that in older patients [ 24 ].…”

Section: Discussionmentioning

confidence: 99%

“…The 17 different pathogenic mutations included 8 missense, 4 nonsense, and 5 frameshift alterations. Furthermore, Xiao Liu et al found a novel homozygous splicing alteration in the SAG gene (c.181 +1G >A ) [ 1 ].…”

Section: Discussionmentioning

confidence: 99%

“…Oguchi disease is a rare form of congenital stationary night blindness characterized by golden-yellow discoloration of the fundus, which returns to normal after a long period of dark adaptation (Mizuo-Nakamura phenomenon ) [ 1 – 4 ]. This disease was first described in 1907 and has been more frequently reported in the Japanese population than in other populations [ 5 , 6 ].…”

Section: Introductionmentioning

confidence: 99%

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A compound heterozygous mutation in the S-Antigen Visual Arrestin SAG gene in a Chinese patient with Oguchi type one: a case report

et al. 2022

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Background Oguchi disease is a rare autosomal recessive form of congenital quiescent night blindness. Oguchi disease has been found to be associated with gene mutations in SAG and GRK1, which are vital factors in the recovery phase of phototransduction after light stimuli. We report a case of Oguchi disease with novel heterozygous mutations in SAG. Case presentation A 7-year-old girl with a history of night blindness since childhood, was referred to our hospital. Ophthalmologic examinations included visual acuity, fundus examinations, fundus photography, spectral-domain optical coherence tomography, electroretinographic (ERG). Mutation screening of the SAG and GRK1 genes was performed. This patient exhibited typical clinical characteristics of Oguchi disease, including night blindness, golden fundus with the Mizuo–Nakamura phenomenon, packed structure of the parafovea in optical coherence tomography and reduced a-waves and b-waves in scotopic 3.0 ERG. Genetic testing revealed a heterozygous change in nucleotide c.72_75+15delATCGGTGAGTGGTGCACAA in exon 2 of the SAG gene in this patient, her unaffected mother and younger brother. A splicing alteration of nucleotide c.376-2A>C was identified in exon 6 of the SAG gene with heterozygous status in this patient and her unaffected father. Conclusions Compound heterozygosity of a nonsense p.S25X mutation in exon 2 and a splicing alteration in exon 6 of the SAG gene is the cause of this patient with Oguchi type 1 disease in China.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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A compound heterozygous mutation in the S-Antigen Visual Arrestin SAG gene in a Chinese patient with Oguchi type one: a case report

et al. 2022

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“…Other visual functions, such as visual acuity, visual field, color vision and daytime vision are usually within normal [1]. The disease has two forms: Oguchi type 1 (OMIM 258100) caused by mutations in the SAG gene (OMIM 181031) and Oguchi type 2 (OMIM 613411) caused by mutations in the GRK1 gene (OMIM 181031) [21].…”

Section: Discussionmentioning

confidence: 99%

Mutation analysis reveals novel and known mutations in SAG gene in first two Egyptian families with Oguchi disease

et al. 2022

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Background Oguchi disease is a rare type of congenital stationary night blindness associated with an abnormal fundus appearance. It is inherited in an autosomal recessive manner where two types exist according to the gene affected; type 1 associated with S-antigen (SAG) gene mutations and type 2 associated with rhodopsin kinase (GRK1) gene mutations. Purpose The aim of this work was to describe the clinical and genetic findings of the first two reported families of Oguchi disease in Egypt and African region. Methods Four members of two consanguineous Egyptian families with history of night blindness since childhood underwent complete ophthalmological examination, standard automated static perimetry, fundus color photography, fundus autofluorescence (FAF), fundus fluorescein angiography (FFA) in light-adapted state and spectral-domain optical coherence tomography (SD-OCT) of both the macula and the optic nerve head as well as central corneal thickness with repeated fundus photography following prolonged dark adaptation. Mutation screening of 7 coding exons of GRK1 gene and 15 coding exons of SAG gene as well as some flanking regions were performed using Sanger sequencing technique. The variants were tested for pathogenicity using different in silico functional analysis tools. Results The clinical examination and investigations confirmed Oguchi disease phenotype. One patient showed p.R193* (c.577C > T) which is a previously reported SAG gene mutation in a homozygous form. The other three patients from a different family showed (c.649–1 G > C), a novel canonical splice site SAG gene mutation in a homozygous form. Conclusion The identification of the novel canonical splice site SAG gene variant in three members of the same family with clinically confirmed Oguchi disease reinforces its pathogenicity. A fourth patient from another family carried a previously reported mutation in the same gene. SAG gene variants may be the underlying genetic cause for Oguchi disease in Egypt. Our findings have expanded the spectrum of Oguchi disease-associated mutations in SAG gene and may serve as a basis for genetic diagnosis for Oguchi disease.

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Genetic analysis and clinical features of three Chinese patients with Oguchi disease

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et al. 2022

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Oguchi disease caused by a homozygous novel SAG splicing alteration associated with the multiple evanescent white dot syndrome: A 15-month follow-up

Cited by 4 publications

References 30 publications

A compound heterozygous mutation in the S-Antigen Visual Arrestin SAG gene in a Chinese patient with Oguchi type one: a case report

A compound heterozygous mutation in the S-Antigen Visual Arrestin SAG gene in a Chinese patient with Oguchi type one: a case report

Mutation analysis reveals novel and known mutations in SAG gene in first two Egyptian families with Oguchi disease

Genetic analysis and clinical features of three Chinese patients with Oguchi disease

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