2 results

Ferritin light chain gene mutations in two Brazilian families with hereditary hyperferritinemia-cataract syndrome

Roberta Cardoso Petroni, Susana Elaine Alves da Rosa, Flavia Pereira de Carvalho, Rúbia Anita Ferraz Santana, Joyce Esteves Hyppolito, Claudia Mac Donald Bley Nascimento, [...]

DOI: 10.1590/S1679-45082017RC4006

ABSTRACT Hereditary hyperferritinemia-cataract syndrome is an autosomal dominant genetic disorder associated with mutations in the 5’UTR region of the ferritin light chain gene. These mutations cause the ferritin levels to increase even in the absence of iron overload. Patients also develop bilateral cataract early due to accumulation of ferritin in the lens, and many are misdiagnosed as having hemochromatosis and thus not properly treated. The first cases were described in 1995 and several mutations have already been identified. However, this […]

Retinal diseases in a reference center from a Western Amazon capital city

Fernando Korn Malerbi, Nilson Hideo Matsudo, Adriano Biondi Monteiro Carneiro, Claudio Luiz Lottenberg

DOI: 10.1590/S1679-45082015AO3538

ABSTRACTObjective To describe retinal diseases found in patients who were waiting for treatment at a tertiary care hospital in Rio Branco, Acre, Brazil.Methods Patients underwent slit lamp biomicroscopy, dilated fundus exam and ocular ultrasound. Patients were classified according to phakic status and retinal disease of the most severely affected eye.Results A total of 138 patients were examined. The mean age was 51.3 years. Diabetes was present in 35.3% and hypertension in 45.4% of these patients. Cataract was found in 23.2% […]