Bildgebung und molekulargenetische Diagnostik zur Charakterisierung von Netzhautdystrophien
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Bildgebung und molekulargenetische Diagnostik zur Charakterisierung von Netzhautdystrophien. / Birtel, J; Gliem, M; Holz, F G; Herrmann, P.
In: OPHTHALMOLOGE, Vol. 115, No. 12, 12.2018, p. 1021-1027.Research output: SCORING: Contribution to journal › SCORING: Review article › Research
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TY - JOUR
T1 - Bildgebung und molekulargenetische Diagnostik zur Charakterisierung von Netzhautdystrophien
AU - Birtel, J
AU - Gliem, M
AU - Holz, F G
AU - Herrmann, P
PY - 2018/12
Y1 - 2018/12
N2 - Hereditary retinal dystrophies represent a genetically and clinically heterogeneous group of diseases. A comprehensive characterization constitutes functional and high-resolution multimodal imaging. With the advent of novel treatment options the detection of the underlying gene causing the disease is becoming more important. Technical advances in molecular genetic diagnostics enable a classification of retinal dystrophies depending on the specific genetic cause of the disease, which is important particularly against the background of newly emerging therapy approaches. Targeted next generation sequencing (NGS), in particular is now an efficient method to accomplish this and can be especially helpful to identify rare and potentially new disease-causing variants. For the interpretation of the molecular genetic results a close collaboration between ophthalmologists and geneticists is essential.
AB - Hereditary retinal dystrophies represent a genetically and clinically heterogeneous group of diseases. A comprehensive characterization constitutes functional and high-resolution multimodal imaging. With the advent of novel treatment options the detection of the underlying gene causing the disease is becoming more important. Technical advances in molecular genetic diagnostics enable a classification of retinal dystrophies depending on the specific genetic cause of the disease, which is important particularly against the background of newly emerging therapy approaches. Targeted next generation sequencing (NGS), in particular is now an efficient method to accomplish this and can be especially helpful to identify rare and potentially new disease-causing variants. For the interpretation of the molecular genetic results a close collaboration between ophthalmologists and geneticists is essential.
KW - High-Throughput Nucleotide Sequencing
KW - Humans
KW - Retinal Dystrophies/diagnosis
U2 - 10.1007/s00347-018-0779-9
DO - 10.1007/s00347-018-0779-9
M3 - SCORING: Review
C2 - 30259088
VL - 115
SP - 1021
EP - 1027
JO - OPHTHALMOLOGE
JF - OPHTHALMOLOGE
SN - 0941-293X
IS - 12
ER -
