The Molecular Genetic and Clinical Findings in two Probands with Stargardt Disease
Authors:
B. Kousal 1,5; J. Záhlava 2; Š. Vejvalková 3; M. Hejtmánková 4; P. Lišková 1,5
Authors place of work:
Oãní klinika, 1. lékafiská fakulta, Univerzita
Karlova v Praze a V‰eobecná fakultní
nemocnice v Praze, pfiednostka
doc. MUDr. Bohdana Kalvodová, CSc.
1; Oãní klinika JL, s. r. o., primáfi MUDr.
Ján Le‰ták, CSc., FEBO, MBA, LL. A
FAOG
2; Ústav biologie a lékafiské genetiky, 2.
lékafiská fakulta, Univerzita Karlova
v Praze a Fakultní nemocnice v Motole
pfiednosta prof. MUDr. Milan Macek jr.
DrSc.
3; GENNET, Praha, vedoucí MUDr.
David Stejskal
4; Laboratofi biologie a patologie oka
Ústav dûdiãn˘ch metabolick˘ch poruch
1. lékafiská fakulta, Univerzita Karlova
v Praze a V‰eobecná fakultní nemocnice
v Praze, pfiednosta prof. MUDr.
Viktor KoÏich, CSc.
5
Published in the journal:
Čes. a slov. Oftal., 70, 2014, No. 6, p. 228-233
Category:
Original Article
Summary
Purpose:
The aim of our study was to describe the phenotype and to perform molecular genetic investigation in two probands of Czech origin diagnosed with Stargardt disease (STGD).
Methods:
Both males underwent ocular examination including assessment by high-resolution spectral domain optical coherence tomography (SD-OCT). DNA was isolated from venous blood. Mutation detection was performed using the ABCA4 genotyping microarray (Asper Ophthalmics, Estonia).
Results:
The best corrected visual acuity in proband 1 (aged 39 years) was 0.1 bilaterally, and 0.05 in proband 2 (aged 26 years). Fundus examination showed typical multiple yellow-white lesions and macular atrophy. Alterations of retinal pigment epithelium, retinal thinning and disruption of the photoreceptor inner segment ellipsoid band were detected with an SD-OCT. Two known disease-causing mutations in ABCA4 were identified in proband 1; c.4234C>T, p.(Gln1412*) in exon 28; and c.5882G>A, p.(Gly1961Glu) in exon 42. Only one pathogenic change was detected in proband 2; c.1988G>A, p.(Trp663*) in exon 14. A second change, anticipated because of the recessive status of the disease, was not identified.
Conclusion:
The frequency and full spectrum of ABCA4 mutations in Czech patients with inherited retinal disorders is yet to be established. The inability to detect a second pathogenic change in ABCA4 coding sequences in proband 2 warrants further investigation.
Key words:
Stargardt disease, ABCA4, mutation, SD-OCT
Zdroje
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Štítky
OphthalmologyČlánok vyšiel v časopise
Czech and Slovak Ophthalmology
2014 Číslo 6
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