دورية أكاديمية
أعرض في EDS

Clinical and Ultrastructural Studies of Gelatinous Drop-Like Corneal Dystrophy (GDLD) of a Patient with TACSTD2 Gene Mutation

التفاصيل البيبلوغرافية
العنوان: Clinical and Ultrastructural Studies of Gelatinous Drop-Like Corneal Dystrophy (GDLD) of a Patient with TACSTD2 Gene Mutation
المؤلفون: Ali Masmali, Aljoharah Alkanaan, Hind M. Alkatan, Omar Kirat, Abdullah Ayidh Almutairi, Turki Almubrad, Saeed Akhtar
المصدر: Journal of Ophthalmology, Vol 2019 (2019)
بيانات النشر: Wiley, 2019.
سنة النشر: 2019
المجموعة: LCC:Ophthalmology
مصطلحات موضوعية: Ophthalmology, RE1-994
الوصف: Purpose. To describe clinical, molecular genetics, histopathologic and ultrastructural findings of gelatinous drop-like corneal dystrophy (GDLD) (OMIM #204870) in a Sudanese patient. Method. An ocular examination revealed the onset of GDLD in a Sudanese patient (50 years old) at King Khalid Specialist Hospital, Riyadh. The 333 sequence variants in 13 GDLD genes of a DNA sample were screened by Asper Ophthalmics Ltd. It was further confirmed by sequencing. The patient had undergone a penetrating keratoplasty in the right eye. The corneal tissue was processed for histopathology and ultrastructural studies. Results. Slit-lamp observation showed grayish-white multiple superficial corneal nodules of various sizes in the left and right eye. Both corneas became clear after the surgery. The GDLD deposits in the subepithelial region and in the anterior stroma were confirmed by PAS staining and their apple-green birefringence under polarized light. Ultrastructurally, the amyloid fibrils were very thin and grouped in whorl-like structures, which caused splits between and within the stromal lamellae. Collagen fibrils (CFs) and keratocytes had degenerated. A homozygous c.355T > A mutation in exon 1 of the TACSTD2 (M1S1) gene was detected, and alteration of the amino acid (p.Cysl19Ser in NCBI entry NP_002344.2) was observed. Conclusion. In our patient with GDLD, a “c.355T > A” mutation in exon 1 of TACSTD2 was detected and believed to be responsible for the alteration of the amino acid leading to the formation of the amyloid deposits. The deposits caused the ultrastructural degeneration of epithelium, Bowman’s layer, stroma, and keratocytes of the GDLD cornea.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 2090-004X
2090-0058
Relation: https://doaj.org/toc/2090-004X; https://doaj.org/toc/2090-0058
DOI: 10.1155/2019/5069765
URL الوصول: https://doaj.org/article/bebed6dcd6e54cbfac90586bf5ade2e2
رقم الأكسشن: edsdoj.bebed6dcd6e54cbfac90586bf5ade2e2
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:2090004X
20900058
DOI:10.1155/2019/5069765