Multimodal Imaging Characteristics of ADRP in a Family with p.Thr58Arg Substituted RHO Mutation
المؤلفون المشاركون
Ruppert, Misty
Pyun, John
Chalam, K. V.
Sierpina, David
المصدر
العدد
المجلد 2020، العدد 2020 (31 ديسمبر/كانون الأول 2020)، ص ص. 1-9، 9ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2020-12-02
دولة النشر
مصر
عدد الصفحات
9
التخصصات الرئيسية
الملخص EN
Background.
Autosomal dominant retinitis pigmentosa (adRP) is a rare cause of progressive visual impairment in young patients and is frequently a result of RHO gene mutations.
p.Thr58Arg rhodopsin mutation leads to misfolding of rhodopsin, subsequent accumulation in the endoplasmic reticulum, and leads to consecutive atrophy of photoreceptor cells through apoptosis.
Materials and Methods.
We describe multimodal imaging findings in a 58-year-old female with adRP due to a c.173 C > G, p.Thr58Arg rhodopsin mutation (confirmed on genotyping), including ultra-wide-field fundus autofluorescence (UWF-FAF), color scanning laser ophthalmoscopy, structural optical coherence tomography (OCT), OCT-angiography (OCT-A), electroretinography (ERG), and visual field testing (HVF).
Additionally, we compare the patient’s phenotypic findings to those of her offspring, who was also affected by adRP.
Results.
The 58-year-old female and her son with symptoms of nyctalopia and decreased vision showed macular pigmentary changes in a bull’s-eye pattern along with bone spicules in periphery with retinal atrophy.
Genotyping confirmed p.Thr58Arg rhodopsin mutation.
Wide area of dystrophic retina was noted on UWF-FAF, along with corresponding atrophy of photoreceptor layer on OCT.
OCTA revealed complete nonperfusion of the superficial capillary plexus in areas of retinal dystrophy.
ERG revealed increased latency and decreased amplitudes; HVF revealed constriction of visual fields consistent with retinal findings.
Conclusions.
Multimodal imaging is extremely helpful in delineating the extent of retinal dystrophy and comparable to ERG for monitoring of progress in retinitis pigmentosa.
Photoreceptor layer thickness (measured with OCT) strongly correlated with ERG and can be used as a secondary surrogate for monitoring the disease progress.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Ruppert, Misty& Pyun, John& Chalam, K. V.& Sierpina, David. 2020. Multimodal Imaging Characteristics of ADRP in a Family with p.Thr58Arg Substituted RHO Mutation. Case Reports in Genetics،Vol. 2020, no. 2020, pp.1-9.
https://search.emarefa.net/detail/BIM-1147289
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Ruppert, Misty…[et al.]. Multimodal Imaging Characteristics of ADRP in a Family with p.Thr58Arg Substituted RHO Mutation. Case Reports in Genetics No. 2020 (2020), pp.1-9.
https://search.emarefa.net/detail/BIM-1147289
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Ruppert, Misty& Pyun, John& Chalam, K. V.& Sierpina, David. Multimodal Imaging Characteristics of ADRP in a Family with p.Thr58Arg Substituted RHO Mutation. Case Reports in Genetics. 2020. Vol. 2020, no. 2020, pp.1-9.
https://search.emarefa.net/detail/BIM-1147289
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1147289
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر