Five pedigrees (including an expanded version of a previously reported pedigree) exhibited typical autosomal dominant retinitis pigmentosa were analysed for linkage of RP to 29 genetic markers. No significant lod scores resulted. The largest lod score is +1.51 and suggests linkage between RP and Rh blood group at an estimated recombination fraction of 20% in males and 40% in females. Further st...

Retinitis pigmentosa (RP) is a group of genetically and clinically heterogeneous retinal diseases and a common cause of blindness. Among the 12 autosomal dominant RP (adRP) genes identified, four encode ubiquitously expressed proteins involved in pre-mRNA splicing, demonstrating the important role that pre-mRNA splicing plays in the pathogenesis of retinal degeneration. This review focuses on r...

Inherited retinal dystrophies represent the most frequent hereditary disorders of the ocular posterior segment. The chronic eye diseases included in this heterogeneous group of genetic degenerative disorders of the retina are also habitually named retinitis pigmentosa, a term coined by Donders more than 150 years ago. Taking into account all the different forms of retinitis pigmentosa (RP), amo...

Retinitis pigmentosa (RP) is a group of progressive hereditary disorders of the retina in which various modes of inheritance have been described. The X linked forms of retinitis pigmentosa (XLRP, MIM 268000) are among the most severe owing to their early onset, leading to significant vision loss before the fourth decade. Five XLRP loci have been localised by linkage: RP2 (MIM 312600), RP3 (MIM ...

Jelena KARADŽIĆ Clinical Centre of Serbia, Clinic for Eye Diseases, Pasterova 2, Belgrade, Serbia [email protected] SUMMARY Introduction Retinitis pigmentosa (RP) is a group of inherited retinal dystrophies caused by mutations in various genes. The disease leads to progressive photoreceptors loss (rods predominantly) and retinal pigment epithelium alteration. RP can lead to blindness in the ad...

BACKGROUND Retinitis pigmentosa is a group of genetic progressive retinal dystrophies that may adversely affect daily life. Those with RP should develop adaptive coping strategies to manage their condition. This study investigates the relationship between engaging (ECS) and disengaging coping strategies (DCS), vision-related quality of life (VRQoL), and emotional health, in adults living at hom...

Aim. To evaluate the peripapillary retinal nerve fiber layer (RNFL) changes in retinitis pigmentosa (RP) patients using spectral domain optic coherence tomography (Sd-OCT). Methods. We retrospectively examined medical records of forty-four eyes of twenty-two RP patients. The results were also compared with those of previously reported forty-four eyes of twenty-two normal subjects (controls). Re...

(PVR), macular degeneration, and retinitis pigmentosa (RP), can lead to blindness without timely treatment. Vascular endothelial growth factor (VEGF) has been identified as a key promoting vascular leakage angiogenesis, making neutralization of VEGF the first-line therapy for ischemic retinopathies such DR retinal occlusions. However, not all patients with these respond anti-VEGF therapy, neces...

Aims—To ascertain the level of perceived diYculty experienced by patients with central vision loss due to juvenile macular dystrophies in the performance of everyday activities. A second objective was to compare their perceived diYculty with that of patients with retinitis pigmentosa (RP) with primarily peripheral vision

AIM To determine the pattern of rhodopsin mutations in Chinese retinitis pigmentosa (RP) patients. METHODS The rhodopsin gene was examined in 101 RP patients and 190 controls from Hong Kong. RESULTS Three coding changes were identified: Pro347Leu, Ala299Ser, and 5211delC. Each protein sequence alteration was found in one patient. Ala299Ser also existed in two controls. CONCLUSION The C-te...