Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani families with clinically heterogeneous eye diseases
نویسندگان
چکیده
منابع مشابه
Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis.
PURPOSE To evaluate genotypic and macular morphologic correlations in patients with RPE65-, CEP290-, GUCY2D-, or AIPL1-related Leber congenital amaurosis (LCA) using spectral-domain optical coherence tomography (SD-OCT). METHODS SD-OCT macular scans were performed in 21 patients, including 10 with RPE65, 7 with CEP290, 3 with GUCY2D, and 1 with AIPL1 mutations. An image processing software wa...
متن کاملAssociation of pathogenic mutations in TULP1 with retinitis pigmentosa in consanguineous Pakistani families.
OBJECTIVE To identify pathogenic mutations responsible for autosomal recessive retinitis pigmentosa in 5 consanguineous Pakistani families. METHODS Affected individuals in the families underwent a detailed ophthalmological examination that consisted of fundus photography and electroretinography. Blood samples were collected from all participating family members, and genomic DNA was extracted....
متن کاملObesity and Eye Diseases
Background: Obesity is a chronic metabolic disease that has become an epidemic today. Objective: Although the effects of obesity on the body have been well studied, less is known about obesity and eye health. Methods The present article is a review study. The search was performed using keywords of obesity and eye diseases in PubMed, Scopus, Web of Science databases from 2000 to 2021. Resul...
متن کاملCorticotherapy in Eye Diseases and Its Complications
Corticosteroids are being rn;;ed in different ophthalmic disorder as anti-inflamatory agent. A.C.T.H. stimulated the supra renal glands and causes an increase steroid concentration of the blood. Corticosteroids can be used as antiinflamatory agent locally ar.d systemically. The new corticom,teroids like prednison, dexxametason and prednisolon are more effective ( 5 to 10 times) than the o...
متن کاملHomozygosity Mapping and Targeted Sanger Sequencing Reveal Genetic Defects Underlying Inherited Retinal Disease in Families from Pakistan
BACKGROUND Homozygosity mapping has facilitated the identification of the genetic causes underlying inherited diseases, particularly in consanguineous families with multiple affected individuals. This knowledge has also resulted in a mutation dataset that can be used in a cost and time effective manner to screen frequent population-specific genetic variations associated with diseases such as in...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: PLOS ONE
سال: 2020
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0239748