Full-text resources of PSJD and other databases are now available in the new Library of Science.
Visit https://bibliotekanauki.pl
Preferences help
enabled [disable] Abstract
Number of results

Results found: 2

Number of results on page
first rewind previous Page / 1 next fast forward last

Search results

Search:
in the keywords:  RETINITIS PIGMENTOSA
help Sort By:

help Limit search:
first rewind previous Page / 1 next fast forward last
EN
Three brothers, one 10-year-old and a pair of 14-year-old dizygotic twins ? expressed the classical, early-onset retinitis pigmentosa (RP) with typical ophthalmoscopic findings, night blindness, visual field constricted to 10o and flat ERG response. All three brothers were also diagnosed with primary ciliary dyskinesia (PCD) and had recurrent respiratory infections, chronic sinusitis and bronchiectasis. In all of them, resection of the middle lobe of the right lung was performed. A similar clinical picture of coexisting RP and PCD was noted in the brother of the probands? mother. All probands displayed situs solitus. Consistent with the X-linked mode of RP inheritance, there were also three obligatory female carriers of the disorder in this family: the mother of the affected boys, her mother and a daughter of her brother. In all of them, retinitis pigmentosa ?sine pigmento? was found with milder but clinically significant symptoms (mild night blindness, visual field constricted to 30o, and scotopic and photopic ERG responses reduced to 30-60%). No extraocular symptoms were detected in any of the heterozygous female carriers. This family presents an example of two rare phenomena: X-linked dominant retinitis pigmentosa (with milder expression in females) and a rare combination of RP with recurrent respiratory infections due to PCD.
EN
Lithuanian patients with visual problems were clinically examined for retinitis pigmentosa (RP). Out of more than 70 clinically and genealogically tested patients with familial retinal degenerations, 33 unrelated families with autosomal dominant RP (adRP) were identified. Screening for mutations in the rhodopsin (RHO) and polymorphisms in the peripherin/RDS (RDS) genes was initially performed in the adRP patients using DNA heteroduplex (HD) analysis. Direct DNA sequencing in the cases of heteroduplex formation showed the presence of the following mutations and polymorphisms in 14 adRP patients: RHO gene mutations - Lys248Arg (one case), and Pro347Leu (two cases) and RDS gene polymorphisms - Glu304Gln (12 cases), Lys310Arg (5 cases), and Gly338Asp (12 cases). The presence of these changes in nucleotide sequence (except Lys248Arg in the RHO gene) was confirmed by relevant restriction enzyme digestion. Since RHO gene mutation Pro347Leu has been shown to be related to adRP, early diagnosis of adRP is possible in the corresponding families. On the other hand, RDS gene mutations Glu304Gln, Lys310Arg, and Gly338Asp appear to be polypeptide polymorphisms not related to adRP. Low prevalence of adRP causing mutations identified in the RHO gene and similar distribution of the peripherin/RDS amino acid polymorphisms in the Lithuanian adRP probands imply the presence of genetic peculiarities of the Lithuanian population in comparison to other European populations.
first rewind previous Page / 1 next fast forward last
JavaScript is turned off in your web browser. Turn it on to take full advantage of this site, then refresh the page.