ABSTRACT Lamb-Shaffer syndrome (LAMSHF) is a rare condition characterized by neurodevelopmental disorders caused by haploinsufficiency of the SOX5 gene on chromosome 12p12. Clinically, it manifests itself with growth retardation, global neurodevelopmental delay, speech delay, dysmorphic facial features, and musculoskeletal, cardiac, and genitourinary abnormalities. Although frequent, the ophthalmological presentations of this syndrome are not well established in the literature. In this study, we aim to report a new case of this rare condition, highlighting the ophthalmological aspects of its condition.

Meares-Irlen syndrome, deficiency of the visual processing identified in individuals with dyslexia can be defined as a visual perceptive disorder that is believed to be originated in the primary visual cortex. This study deals with an integrative literature review aimed to analyze the scientific production in relation to biochemical, genetic and immunological basis that maybe understood in this condition. Data were obtained via online query the databases of the Virtual Health Library (VHL) that interconnects several reference databases such as […]

OBJECTIVE: Primary open angle glaucoma is a neurodegenerative disease of the optic nerve that represents one of the main causes of blindness worldwide. Familial aspects have been implicated in the development of the disease and proved in several studies. In this article, we present a systematic review of works about primary open angle glaucoma and mitochondrial DNA and a statistic analyses under a scientometric insight. METHODS: Bibliographic research of the works on mitochondrial DNA and primary open angle glaucoma was […]