Retiküler psödodrusenin eşlik ettiği kuru tip YBMD olgularında retinal ve koroidal değişikliklerin, OKT ve OKTA ile değerlendirilmesi ve ARMS2 polimorfizmi ile ilişkisinin belirlenmesi
Küçük Resim Yok
Tarih
2022
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Ege Üniversitesi, Tıp Fakültesi
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Giriş ve Amaç Yaşa bağlı makula dejenerasyonu (YBMD) poligenik ve multifaktöriyel bir hastalıktır. Hastalığın ortaya çıkmasında ve prognozunun tayin edilmesinde birçok risk faktörü tanımlanmıştır. Bu risk faktörlerinden biri retiküler psödodrusen (RPD)’dir. YBMD patofizyolojisinde genetiğin rolü güncel bir araştırma konusu olup, tek nükleotid varyasyonları hastalık tutulumuyla ilişkili bulunmuştur. Bu çalışmada RPD saptanan ve RPD’ nin eşlik etmediği kuru tip YBMD hastalarında ARMS2 rs10490924 varyasyonu sıklığının belirlenmesi ve sonuçların sağlıklı bireylerle karşılaştırılması amaçlanmıştır. Ayrıca multimodal görüntüleme bulgularının değerlendirilmesi hedeflenmiştir. Yöntem Bu çalışma Ocak 2020- Ocak 2022 tarihleri arasında, Ege Üniversitesi Tıp Fakültesi Göz Hastalıkları AD Retina biriminde yürütüldü. Polikliniğe başvuran, RPD’nin eşlik ettiği 50 kuru tip YBMD hastası (Grup 1), RPD saptanmayan 50 kuru tip YBMD hastası ve yaş-cinsiyet uyumlu 50 sağlıklı gönüllü (Grup 3) çalışmaya dahil edildi. Tüm katılımcıların detaylı oftalmolojik muayeneleri yanında fundus otoflöresans (FOF), OKT, OKTA ve EDI mod OKT görüntülemeleri yapıldı. RPD varlığı FOF, OKT ve infrared görüntüler kullanılarak değerlendirildi, 5 ve üzeri lezyon varlığı RPD açısından pozitif kabul edildi. Varyasyon sıklığının araştırılması için periferik kan örnekleminden elde edilen genomik DNA izole edildi. Yeni jenerasyon sekanslama kullanılarak rs10490924 varyantı değerlendirildi ve riskli T allel sıklıkları hesaplandı. OKTA ile vasküler dansite, flow alanı, foveal avasküler zon (FAZ); EDI mod OKT görüntülerinden, subfoveal koroidal kalınlık ölçümleri ve Image J (National Institutes of Health, Bethesda) programı kullanılarak koroidal vasküler indeks (KVİ) hesaplaması gerçekleştirildi. Elde edilen veriler SPSS paket programı kullanılarak gruplar arasında karşılaştırıldı. Bulgular Ortalama yaş Grup 1, 2 ve 3 için sırasıyla 73,6±7,4 (53, 90), 70,7±5,7 (59, 85), 66,6±12 (53, 80) idi. Koroid kalınlığı ve retinal kalınlık Grup 1’de Grup 2 ‘ye göre istatistiksel olarak anlamlı derecede düşük saptandı (p 0,0001, p 0.045). FAZ değerlerinin gruplar arasında anlamlı farklılık oluşturmadığı saptandı (p >0,05). Yüzeyel ve derin vasküler dansite, foveal kalınlık, flow alanı ve koroidal kalınlık açısından Grup 1 ve 2 arasında anlamlı farklılık saptanmazken (p >0,05); Grup 1 ve 3 hastalar karşılaştırıldığında Grup 1 hastalarda tüm parameterler daha düşük; Grup 2 ve Grup 3 karşılaştırıldığında Grup 2 hastalarda tüm parametreler daha düşük saptandı (tüm parametrelerde p değeri 0,001 idi). EDI mod OKT görüntülerinden hesaplanan KVİ, Grup 1 hastalarda Grup 2 ve 3’e göre anlamlı daha düşük hesaplandı (p 0,012, 0,023) ARMS2 rs10490924 polimorfizmi açısından T risk alleline göre gruplara bakıldığında Grup 1’de %42 (21) hasta heterozigot, %30 (15) hasta homozigot saptandı ve %28 (14) hastada ise risk alleli görülmedi. Grup 2’de %44 (22) hasta heterozigot, %17 (8) hasta homozigot saptandı ve %39(20) hastada risk alleli görülmedi. Sağlıklı kontrol grubu olan Grup 3’te ise %33 (16) katılımcı heterozigot, %2(1) katılımcı homozigot olarak saptandı ve %65 (33) katılımcıda risk alleli görülmedi. Grup 1’de polimorfizm saptanan katılımcı sayısının, diğer iki gruptan anlamlı daha fazla olduğu; Grup 2’de polimorfizm saptanan katılımcıların Grup 3’ten anlamlı daha fazla olduğu görüldü (Sırasıyla p değerleri; 0,02, 0,04; 0,01). Tüm gruplardaki riskli allel sıklığı/frekansı hesaplandı. Sırasıyla T risk allel sıklıkları Grup 1, 2 ve 3’te %51, %38, %18 idi. RPD bulunan kuru tip YBMD hastalarından oluşan Grup 1’de T risk alleli sıklığı anlamlı daha yüksek saptandı. (p 0,02) Sonuç Bu çalışma ile ARMS2 rs10490924 varyasyonun kuru tip YBMD hastalarında RPD olan ve olmayan hasta gruplarında anlamlı olarak daha yüksek frekansta olduğu görüldü. Ayrıca RPD bulunan YBMD hastalarında bulunmayan YBMD hastalarına göre yine daha sık bulunduğu gösterildi. OKTA verilerinden elde edilen vasküler dansite ve flow ölçümlerinin RPD bulunan YBMD hastalarında, sağlıklı kontrol grubuna göre daha düşük olduğu görüldü. Koroidal vasküler komponentin ise RPD hastalarında daha düşük olduğu saptandı.
Introduction and Aim Age-related macular degeneration (AMD) is a polygenic and multifactorial disease. Many risk factors have been defined in the pathophysiology of the disease and to determine the prognosis. One of these risk factors is reticular pseudodrusen (RPD). The role of genetics in the pathophysiology of AMD is a current research topic, and single nucleotide variations are seemed to be associated with disease presence. In this study, it was aimed to determine the frequency of ARMS2 rs10490924 variation in patients with dry type AMD with and without RPD and to compare the results with healthy individuals. In addition, it was aimed to evaluate the multimodal imaging findings. Method This study was carried out between January 2020 and January 2022, at Ege University Faculty of Medicine, Department of Ophthalmology, Retina unit. Fifty dry-type AMD patients with RPD (Group 1), 50 dry-type AMD patients without RPD, and 50 age-sex-matched healthy volunteers (Group 3) who applied to the outpatient clinic were included in the study. In addition to detailed ophthalmological examinations of all participants, fundus autofluorescence (FOF), OCT, OCTA and EDI mode OCT imaging were performed. The presence of RPD was evaluated using FAF, OCT and infrared images, and the presence of 5 or more lesions was considered positive for RPD. To investigate the frequency of variation, genomic DNA was isolated from peripheral blood sample. The rs10490924 variant was evaluated using next-generation sequencing, and the risky T allele frequencies were calculated. From OCTA images vascular density, flow area, foveal avascular zone (FAZ) were evaluated. From EDI mode OCT images subfoveal choroidal thickness measurements and choroidal vascular index (CVI) calculation were performed using Image J (National Institutes of Health, Bethesda) program. The obtained data were compared between the groups using the SPSS package program. Results The mean age was 73.6±7.4 (53.90), 70.7±5.7 (59.85), 66.6±12 (53.80) years for Groups 1, 2 and 3, respectively. Choroidal thickness and retinal thickness were found to be statistically significantly lower in Group 1 compared to Group 2 (p 0.0001, p 0.045). No significant difference was found between the groups related to FAZ (p >0.05). While there was no significant difference between Groups 1 and 2 in terms of superficial and deep vascular density, foveal thickness, flow area and choroidal thickness (p >0.05); when Group 1 and 3 patients were compared, all parameters were lower in Group 1 patients; when Group 2 and Group 3 were compared, all parameters were found to be lower in Group 2 patients (p value was 0.001 for all parameters).CVI calculated from EDI mode OCT images was significantly lower in Group 1 patients compared to Groups 2 and 3 (p 0.012, 0.023). Considering the groups according to the ARMS2 rs10490924 polymorphism T risk allele, 42% (21) patients were heterozygous, 30% (15) patients were homozygous in Group 1, and no risk allele was observed in 28% (14) patients. In Group 2, 44% (22) patients were heterozygous, 17% (8) patients were homozygous, and no risk allele was observed in 39% (20) patients. In Group 3, 33% (16) participants were heterozygous, 2% (1) participants were homozygous, and no risk allele was observed in 65% (33) participants. The number of participants with polymorphism in Group 1 was significantly higher than the other two groups; also participants with polymorphism in Group 2 were significantly higher than those in Group 3 (P values; 0.02, 0.04; 0.01, respectively). The risky allele frequency in all groups was calculated. T risk allele frequencies were 51%, 38%, and 18% in Groups 1, 2, and 3, respectively. The frequency of T risk allele was found to be significantly higher in Group 1 (p 0.02). Conclusion In this study, ARMS2 rs10490924 variation was found to be at a significantly higher frequency in dry AMD patients with and without RPD. In addition, it has been shown that it is more common in AMD patients with RPD than in AMD patients without RPD. Vascular density and flow measurements obtained from OCTA data were found to be lower in AMD patients with RPD than in the healthy control group. The choroidal vascular component was found to be lower in RPD patients.
Introduction and Aim Age-related macular degeneration (AMD) is a polygenic and multifactorial disease. Many risk factors have been defined in the pathophysiology of the disease and to determine the prognosis. One of these risk factors is reticular pseudodrusen (RPD). The role of genetics in the pathophysiology of AMD is a current research topic, and single nucleotide variations are seemed to be associated with disease presence. In this study, it was aimed to determine the frequency of ARMS2 rs10490924 variation in patients with dry type AMD with and without RPD and to compare the results with healthy individuals. In addition, it was aimed to evaluate the multimodal imaging findings. Method This study was carried out between January 2020 and January 2022, at Ege University Faculty of Medicine, Department of Ophthalmology, Retina unit. Fifty dry-type AMD patients with RPD (Group 1), 50 dry-type AMD patients without RPD, and 50 age-sex-matched healthy volunteers (Group 3) who applied to the outpatient clinic were included in the study. In addition to detailed ophthalmological examinations of all participants, fundus autofluorescence (FOF), OCT, OCTA and EDI mode OCT imaging were performed. The presence of RPD was evaluated using FAF, OCT and infrared images, and the presence of 5 or more lesions was considered positive for RPD. To investigate the frequency of variation, genomic DNA was isolated from peripheral blood sample. The rs10490924 variant was evaluated using next-generation sequencing, and the risky T allele frequencies were calculated. From OCTA images vascular density, flow area, foveal avascular zone (FAZ) were evaluated. From EDI mode OCT images subfoveal choroidal thickness measurements and choroidal vascular index (CVI) calculation were performed using Image J (National Institutes of Health, Bethesda) program. The obtained data were compared between the groups using the SPSS package program. Results The mean age was 73.6±7.4 (53.90), 70.7±5.7 (59.85), 66.6±12 (53.80) years for Groups 1, 2 and 3, respectively. Choroidal thickness and retinal thickness were found to be statistically significantly lower in Group 1 compared to Group 2 (p 0.0001, p 0.045). No significant difference was found between the groups related to FAZ (p >0.05). While there was no significant difference between Groups 1 and 2 in terms of superficial and deep vascular density, foveal thickness, flow area and choroidal thickness (p >0.05); when Group 1 and 3 patients were compared, all parameters were lower in Group 1 patients; when Group 2 and Group 3 were compared, all parameters were found to be lower in Group 2 patients (p value was 0.001 for all parameters).CVI calculated from EDI mode OCT images was significantly lower in Group 1 patients compared to Groups 2 and 3 (p 0.012, 0.023). Considering the groups according to the ARMS2 rs10490924 polymorphism T risk allele, 42% (21) patients were heterozygous, 30% (15) patients were homozygous in Group 1, and no risk allele was observed in 28% (14) patients. In Group 2, 44% (22) patients were heterozygous, 17% (8) patients were homozygous, and no risk allele was observed in 39% (20) patients. In Group 3, 33% (16) participants were heterozygous, 2% (1) participants were homozygous, and no risk allele was observed in 65% (33) participants. The number of participants with polymorphism in Group 1 was significantly higher than the other two groups; also participants with polymorphism in Group 2 were significantly higher than those in Group 3 (P values; 0.02, 0.04; 0.01, respectively). The risky allele frequency in all groups was calculated. T risk allele frequencies were 51%, 38%, and 18% in Groups 1, 2, and 3, respectively. The frequency of T risk allele was found to be significantly higher in Group 1 (p 0.02). Conclusion In this study, ARMS2 rs10490924 variation was found to be at a significantly higher frequency in dry AMD patients with and without RPD. In addition, it has been shown that it is more common in AMD patients with RPD than in AMD patients without RPD. Vascular density and flow measurements obtained from OCTA data were found to be lower in AMD patients with RPD than in the healthy control group. The choroidal vascular component was found to be lower in RPD patients.
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