Clinical assessment and molecular genetics of an autosomal dominant retinitis pigmentosa in a bulgarian roma family
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Дата
2011-10
Автори
Koev, K.
Cherninkova, S.
Chakarova, Ch.
Georgiev, R.
Dimitrova, S.
Kaneva, R.
Bhatacharya, S.
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Издател
Централна медицинска библиотека, МУ София / Central Medical Library - MU Sofia
Резюме
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.
Описание
Adress for correspondence:
Assoc. Prof. Krassimir Koev, PhD;
Medical University Sofia;
2 Zdrave str., Sofia;
tel. 028365504
Ключови думи
autosomal dominant retinitis pigmentosa, molecular genetic analysis, tunnel visual fi eld, ERG, fl uorescein angiography
Цитирания
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.