Clinical assessment and molecular genetics of an autosomal dominant retinitis pigmentosa in a bulgarian roma family
| dc.contributor.author | Koev, K. | |
| dc.contributor.author | Cherninkova, S. | |
| dc.contributor.author | Chakarova, Ch. | |
| dc.contributor.author | Georgiev, R. | |
| dc.contributor.author | Dimitrova, S. | |
| dc.contributor.author | Kaneva, R. | |
| dc.contributor.author | Bhatacharya, S. | |
| dc.date.accessioned | 2014-02-06T14:35:20Z | |
| dc.date.available | 2014-02-06T14:35:20Z | |
| dc.date.issued | 2011-10 | |
| dc.description | Adress for correspondence: Assoc. Prof. Krassimir Koev, PhD; Medical University Sofia; 2 Zdrave str., Sofia; tel. 028365504 | en_US |
| dc.description.abstract | Summary. Purpose was to make a clinical assessment and molecular genetic analysis in patients with autosomal dominant form of retinitis pigmentosa (adRP) in a Bulgarian Roma family. Clinical assessment and genealogical analysis in a Bulgarian Roma family suggested the presence of RP with autosomal dominant inheritance with at least 12 affected in 4 generations. Clinical results showed best corrected visual acuity. Performed were kinetic Goldmann perimetry; direct and indirect ophthalmoscopy; ERG; fl uorescein angiography. The molecular genetic analysis involved screening of 15 known adRP genes using microarray panel of Asper Biotech in the index patient. T in exon 4 of the RP1 gene, leading to an amino acid substitution T373I was found in heterozygous condition. Conclusion shourd adRP is a severe and genetically heterogeneous retinal degeneration. We present a Bulgarian Roma family with typical clinical symptoms of RP and heterozygous change in the RP1 gene, which has previously been described as a possible disease causing mutation in a Pakistani family with adRP and in homozygous condition leading to a severe arRP in 2 consanguineous families of Pakistani origin. The clinical and genetic analysis of additional affected and unaffected family members is ongoing. This will allow better genotype-phenotype correlations to be made. | en_US |
| dc.identifier.citation | K. Koev, S. Cherninkova, Ch. Chakarova, R. Georgiev, S. Dimitrova, R. Kaneva and S. Bhatacharya. Clinical assessment and molecular genetics of an autosomal dominant retinitis pigmentosa in a bulgarian roma family - Acta medica bulgarica , 38, 2011, No 2, 46-50. | en_US |
| dc.identifier.issn | 0324-1750 | |
| dc.identifier.uri | http://hdl.handle.net/10861/427 | |
| dc.language.iso | en | en_US |
| dc.publisher | Централна медицинска библиотека, МУ София / Central Medical Library - MU Sofia | en_US |
| dc.subject | autosomal dominant retinitis pigmentosa, molecular genetic analysis, tunnel visual fi eld, ERG, fl uorescein angiography | en_US |
| dc.title | Clinical assessment and molecular genetics of an autosomal dominant retinitis pigmentosa in a bulgarian roma family | en_US |
| dc.type | Article | en_US |