PURPOSE: To define characteristics of the fundus autofluorescence examination, verifying usefulness in the diagnosis and care of hereditary retinal diseases. METHODS: 28 patients, adults, divided equally into four groups ...

This case report describes the presence of bilateral macular atrophy in a patient with Alport syndrome and compares this finding with literature. At fundoscopy, there was a discrete circumscribed macular thinning showing ...

Purpose: To evaluate the short-term (10 months) safety of a single intravitreal injection of autologous bone marrow-derived mononuclear cells in patients with retinitis pigmentosa or cone-rod dystrophy. Methods: A prospective, ...

The inherited retinal dystrophies comprise a large number of disorders characterized by a slow and progressive retinal degeneration. They are the result of mutations in genes that express in either the photoreceptor cells ...

Purpose: To study the genetic profile of a Brazilian inherited retinal dystrophy cohort, emphasizing cases of Leber congenital amaurosis. Methods: Review of 2,299 medical records and 1,015 genetic tests of patients with ...

The authors describe a rare association of bilateral typical coloboma, microcornea and anterior chamber cleavage deficience. They also discuss the embriology and the difficulties to identify if the continuous and insidious ...

Se estudiaron dos familias costarricenses con Retinosis Pigmentaria (RP) de herencia autosomica recesiva, con el fin de descartar genes relacionados con la enfermedad. Para esto se efectuó un análisis de ligamiento con ...

Se estudiaron dos familias costarricenses con Retinosis Pigmentaria (RP) de herencia autosomica recesiva, con el fin de descartar genes relacionados con la enfermedad. Para esto se efectuó un análisis de ligamiento con ...