introduction sectoral retinitis pigmentosa (rp) is a rare clinical condition. case presentation we present a 60-year-old female with a history of mild night blindness and decreased vision in the left eye for about 15 years. conclusions fundus examination revealed retinal pigmentary changes in the inferotemporal sector and reduced arterial caliber. in addition, fundus autofluorescence, fluoresce...

BACKGROUND The purpose of this study was to determine visual acuity at different contrast levels under photopic and mesopic conditions in patients with retinitis pigmentosa. METHODS Sixty eyes of 31 normal controls, 92 eyes of 52 patients with retinitis pigmentosa without other ocular disorders (RP-1 group), and 20 eyes of 14 patients with retinitis pigmentosa with cataracts and without other...

purpose: to report treatment with intravitreal triamcinolone acetonide (ivta) in a patient with cystoid macular edema (cme) secondary to retinitis pigmentosa (rp). case report: a 22-year-old male patient with rp presented with progressive visual loss. visual acuity was 9/10 in the right eye and 10/10 in the left eye without refractive error. examination revealed cme in the right eye. after fail...

PURPOSE To catalog mutations that underlie retinitis pigmentosa (RP) in Saudi Arabia using a representative sample. METHODS Fifty-two patients with RP were recruited and their homozygosity mapping, with or without linkage analysis, was used to suggest the causative genes followed by bidirectional sequencing. RESULTS Mutations were identified in 94% of our study cohort, including seven that ...

Background and Aims: Retinitis pigmentosa (RP) is the most common form of inherited retinal degeneration, photoreceptors loss of which in the retina causes visual loss. The purpose of the present study was to determine patterns of inheritance in RP patients in Yazd to help the health professional for designing suitable laboratory testing for the high risk families. Materials and Methods: Thirt...

OBJECTIVE To calculate age at onset curves of retinitis pigmentosa (RP) to resolve the difficulty in calculating the recurrence risk in a family. Retinitis pigmentosa is a common hereditary retinal disease that leads to blindness. It is a slow-onset disease, and family members of patients sometimes develop RP later. METHODS We studied 370 patients with typical RP. The age at onset was defined...

Retinitis pigmentosa (RP) or hereditary retinal dystrophy is a rare disease that can be isolated (non-syndromic RP) associated with other systemic signs (syndromic RP). Kidney damage exceptionally reported in patients RP, particularly syndromic forms. Association renal amyloidosis remains unusual only one case of RP and gelsolin due to G654A mutation defining the new syndrome Ardalan-Shoja-Kiur...

The aim of this study was to describe a new pathogenic variant in the mutational hot spot exon ORF15 of retinitis pigmentosa GTPase regulator (RPGR) gene within an Italian family with X-linked retinitis pigmentosa (RP), detailing its distinctive genotype-phenotype correlation with pathologic myopia (PM). All members of this RP-PM family underwent a complete ophthalmic examination. The entire op...

Retinitis pigmentosa (RP) affects about 1.8 million individuals worldwide. X-linked retinitis pigmentosa (XLRP) is one of the most severe forms of RP. Nearly 85% of XLRP cases are caused by mutations in the X-linked retinitis pigmentosa 2 (RP2) and RPGR. RP2 has been considered to be a GTPase activator protein for ARL3 and to play a role in the traffic of ciliary proteins. The mechanism of how ...

PURPOSE To screen the mutation in the retinitis pigmentosa GTPase regulator (RPGR) ORF15 in a large Chinese family with X-linked recessive retinitis pigmentosa and describe the phenotype in affected male and female carriers. METHODS Ophthalmic examination was performed on 77 family members to identify affected individuals and to characterize the disease phenotype. PCR and direct sequencing we...