Results 91 to 100 of about 212,972 (185)

A Case of Best Vitelliform Macular Dystrophy

, 2021
Best vitelliform macular dystrophy (BVMD) is the second most common hereditary macular dystrophy. The most common heritable juvenile-onset macular dystrophy is Stargardt disease.
Michael Vaphiades
core  

Macular corneal dystrophy type II : Multiple studies on a cornea with low levels of sulphated keratan sulphate

, 1997
We investigated an individual macular corneal dystrophy (MCD) type II cornea from a 42-year-old woman with markedly reduced antigenic keratan sulphate levels, A characteristic 4.6 Angstrom X-ray reflection was evident, and the mid-stroma contained 30 ...
Ito, M, Capel, M S, Quantock, A J, Thonar, E J M A, Fullwood, N J, Verity, S M, Waltman, S R, Schanzlin, D J   +7 more
core   +4 more sources

Novel compound heterozygous mutations in the CHST6 gene cause macular corneal dystrophy in a Han Chinese family. [PDF]

Ann Transl Med, 2021
Huang Y, Yuan L, Cao Y, Tang R, Xu H, Tang Z, Deng H.   +6 more
europepmc   +1 more source

Corneal Fleck dystrophy in a Spanish family

, 2020
Corneal fleck dystrophy is an unusual, asymptomatic, autosomal dominant condition. In the pathogenesis, it is hypothesized that a hydrolytic enzyme deficiency of keratocytes is involved, leading to accumulation of mucopolysaccharides and intracellular ...
Rodríguez Calvo de Mora, Marina, Rocha-de-Lossada, Carlos, Alba Linero, Carmen, Rodriguez-Calvo-de-Mora, Marina, Hernando-Ayala, Carlos, Alba-Linero, Carmen, Rocha de Lossada, Carlos, Hernando Ayala, Carlos   +7 more
core   +1 more source

Homozygous FAT1 frameshift mutation linked to glomerulotubular nephropathy with impaired cell adhesion and Rap1 signaling

Renal Failure
Genetic mutations are closely linked to various renal diseases, revealing important molecular mechanisms that contribute to kidney dysfunction. Here, we reported a 35-year-old Chinese female diagnosed of glomerulotubular nephropathy with multiple extra ...
Yang Fei, Zhouhui Jin, Li He, Meng Zhang, Qiong Jiao, Qiye Liu, Fujun Lin, Wei Wang, Niansong Wang, Aili Cao, Dongsheng Cheng   +10 more
doaj   +1 more source

Novel mutation in the CHST6 gene causing macular corneal dystrophy

, 2004
Macular corneal dystrophy (MCD) is an autosomal recessive disease characterized by corneal opacities and caused by mutations in a carbohydrate sulfotransferase gene, known as CHST6.
KUHN U., MOLINA F., ABRUZZESE C., DE LUCA, Michele, ROMANELLI G., RAMA P.   +5 more
core   +1 more source

Clinical and tomographic features of a presumed macular corneal dystrophy in a Moroccan sibling cohort

Corneal dystrophies are a group of rare inherited disorders affecting the cornea. We report four affected siblings from a consanguineous Moroccan family with clinical and anterior segment optical coherence tomography (AS-OCT) findings consistent with ...
Kaoutar Fahmaoui, Adil Mchachi, Rayad Rachid, Mohamed Réda Bentouhami, Laila Benhmidoune   +4 more
core   +1 more source

Macular Corneal Dystrophy [PDF]

, 2020
openaire   +3 more sources

A novel founder variant in BEST1 gene causing autosomal recessive bestrophinopathy

Orphanet Journal of Rare Diseases
Background Autosomal recessive bestrophinopathy (ARB) is a rare retinal dystrophy caused by homozygous or compound heterozygous null variants in the BEST1 gene.
Nagham Maher Elbagoury, Caroline Atef Tawfik, Asmaa Fawzy Abdel-Aleem, Heba Mahmoud Fathy, Dina Nabil Baddar, Mona Lotfi Essawi   +5 more
doaj   +1 more source

Unilateral corneal endothelial dystrophy and anterior keratoconus

, 2007
PURPOSE: To describe a case of keratoconus and Fuchs' corneal endothelial dystrophy in the left eye with no corneal disease in the right eye. METHODS: A 64-year-old woman presented with visual impairment in her left eye; computer-assisted topographic ...
TOMMASI C., TRAVERSI C., TOSI G. M., BERNI E., MARTONE G., BALESTRAZZI A., NUTI E., G. Martone, E. Nuti, A. Balestrazzi, E. Berni, C. Traversi, G.M. Tosi, C. Tommasi   +13 more
core   +1 more source