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Quoted phrase not found in phrase index: "Congenital stationary night blindness 1G"
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Mutation analysis reveals novel and known mutations in SAG gene in first two Egyptian families with Oguchi disease.
Tawfik CA, Elbagoury NM, Khater NI, Essawi ML. Tawfik CA, et al. BMC Ophthalmol. 2022 May 12;22(1):217. doi: 10.1186/s12886-022-02444-5. BMC Ophthalmol. 2022. PMID: 35549688 Free PMC article.
BACKGROUND: Oguchi disease is a rare type of congenital stationary night blindness associated with an abnormal fundus appearance. ...
BACKGROUND: Oguchi disease is a rare type of congenital stationary night blindness associated with an abnormal f …
Two novel compound heterozygous SAG mutations in an Italian patient with Oguchi disease: A genetic and multimodal retinal imaging study.
Pilotto E, Trevisson E, Nacci EB, Longhin E, Guidolin F, Midena E. Pilotto E, et al. Eur J Ophthalmol. 2022 Nov;32(6):NP1-NP5. doi: 10.1177/11206721211027422. Epub 2021 Jun 24. Eur J Ophthalmol. 2022. PMID: 34162253
The present study aimed to report an Italian patient affected by Oguchi disease, evaluated by means of a multimodal retinal imaging study and harboring two novel heterozygous pathogenic variants in the SAG gene. MATERIALS AND METHODS: A 60-year-old female complaining congenita …
The present study aimed to report an Italian patient affected by Oguchi disease, evaluated by means of a multimodal retinal imaging study an …