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    Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene
    (Taylor & Francis, 2021) Doğan, Mustafa; Eröz, Recep; Öztürk, Emrah
    Purpose: The current study aims to raise awareness of Boucher - Neuhauser syndrome (BNHS) that occurs as a rare phenotype due to biallelic pathogenic variants in the PNPLA6 gene. Methods: Detailed family histories and clinical data were recorded. Whole exome sequencing was performed and co-segregation analysis of the family was done by sanger sequencing. Also, review of 28 molecularly confirmed patients with BNHS from the literature was evaluated. Results: We identified a missense homozygous variant (c.3524 C > G (p.Ser1175Cys)) in the PNPLA6 gene, which explains the phenotype of the patient and neurologic, ophthalmologic, endocrine, and genetic evaluations established a diagnosis of BNHS. Symptoms, ethnicity, clinical and genetic findings of 28 molecularly confirmed patients with BNHS from the literature were also presented. Conclusion: We present the main findings of a Turkish family with BNHS together with detailed clinical and genetic profiles of patients diagnosed as BNHS that have been molecularly confirmed in the literature so far.
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    The Impact of COVID-19 on Conjunctival Flora
    (Taylor & Francis, 2021) Gündüz, Ayten; Öztürk, Emrah; Çağaşar, Özlem
    Purpose: This study aims to evaluate the effect of coronavirus disease 2019 (COVID-19) on conjunctival flora in patients hospitalized with COVID-19. Methods: This prospective, controlled study was conducted between June 2020 and December 2020. The study group consisted of 45 confirmed COVID-19 patients and 43 control subjects. The collected samples were inoculated into the Thioglycollate broth media without delay. The samples with growth were then passed on eosin methylene blue agar, sabouraud dextrose agar, chocolate agar, and 5% sheep blood agar solid media. Results: The mean age of the COVID-19 patients was 64.24 ± 15.4 years, and the control subjects were 59.72 ± 11.4 years. The culture positivity of conjunctiva samples in COVID-19 patients (95.6%) was statistically significantly higher than control subjects (76.7%) (p = .024). Coagulase-negative staphylococcus and Staphylococcus aureus’ positivity was significantly higher in COVID-19 patients than control subjects (p < .05). Conclusion: Patients with COVID-19 demonstrate significantly higher culture positivity on conjunctival flora than the control subjects.
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    Inferior oblique anterior transposition according to a different grading scale for hyperdeviation with inferior oblique overaction
    (Elsevier, 2022) Gündüz, Abuzer; Öztürk, Emrah; Fırat, Murat
    Objective;To define an inferior oblique anterior transposition (IOAT) grading scale in patients with hyperdeviation and inferior oblique overaction (IOOA), which we planned based on the data we obtained in our previous retrospective study.
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    A Rare Complication of Phacoemulsification: Phaco Tip Fracture
    (2021-03-22) Öztürk, Emrah; Gündüz, Abuzer
    Phacoemulsification is frequently applied by ophthalmologists for the treatment of cataracts. As with all surgeries, various complications may develop during phacoemulsification. Instrument fracture, especially phaco tip fracture is one of the rare complications of phacoemulsification. We aim to report a case of phaco tip fracture during phacoemulsification surgery in the intumescent cataract and describe early signs of this condition.