We present a nine generation family with autosomal dominant retinitis pigmentosa (ADRP). Evidence of blindness in the early generations, as obtained from census returns and clinical records, and examination of current patients show variable expressivity with a spectrum which ranges from asymptomatic in late life to blindness in the third decade of life. The family is not linked to any of the ch...

Several studies have investigated the protective functions of brain-derived neurotrophic factor (BDNF) in retinitis pigmentosa. However, a BDNF-based therapy for retinitis pigmentosa is not yet available. To develop an efficient treatment for fundus disease, an eukaryotic expression plasmid was generated and used to transfect human 293T cells to assess the expression and bioactivity of BDNF on ...

Hereditary degenerations of the human retina are genetically heterogeneous, with well over 100 genes implicated so far. This Seminar focuses on the subset of diseases called retinitis pigmentosa, in which patients typically lose night vision in adolescence, side vision in young adulthood, and central vision in later life because of progressive loss of rod and cone photoreceptor cells. Measures ...

PURPOSE To investigate whether or not thicker retinal nerve fiber layer (RNFL) in retinitis pigmentosa (RP) patients relates to functional abnormalities of the photoreceptors. METHODS Optical coherence tomography-based RNFL thickness was measured by Stratus-3™ (Zeiss, Basel, Switzerland) optical coherence tomography and electroretinogram (ERG) recordings made using the RETI-port(®) system (Ro...

INTRODUCTION Several macular complications related to abnormalities of the vitreoretinal interface have been classically attributed to retinitis pigmentosa of which cystoid macular edema is the most common. Other less frequent complications are as follows: epiretinal membranes, vitreomacular traction syndrome and macular holes. CASE PRESENTATION A 64-year-old woman, with the previous diagnosi...

A SPONTANEOUS degeneration of the retina of the dog, due to a generalized progressive atrophy of the neuroepithelium and called " night blindness " or retinitis pigmentosa of dogs has been known for nearly half a century, since Magnusson's recognition of the syndrome in Gordon Setters in Sweden about 1905 (Magnusson, 1909, 1911, 1917); he considered the condition to be similar to retinitis pigm...

We screened 526 unrelated patients with autosomal dominant, autosomal recessive, or simplex retinitis pigmentosa for evidence of mutations of the genes encoding S-antigen (S-Ag), interstitial retinol binding protein (IRBP), and the alpha-subunit of cone-specific transducin. Restriction fragment length polymorphisms (RFLPs) were identified at each of these loci. Within each set of patients with ...