Veidlapa Nr. M-3 (8)
Study Course Description
Ophthalmology
Course Code
RGN_005
Branch of Science
Clinical medicine; Medicinal Genetics
ECTS
3.00
Target Audience
Medicine
LQF
Level 8
Study Course Implementer
Course Supervisor
Madara Rēdele
Residency Speciality
Speciality
Medical Geneticist
Supervisor of Medical Speciality
Madara Rēdele
Contacts
-
About Study Course
Objective
To introduce the medical genetics resident to the most common problems in ophthalmology, to differentiate and recognise them in relation to congenital syndromic and non-syndromic defects.
Learning Outcomes
Knowledge
1.During the time allotted for the study course, medical genetics resident acquires basic knowledge in ophthalmology.
Skills
1.As a result of completing the study course, the medical genetics resident will be able to assess the patient’s ophthalmological condition, will be able to evaluate the results of laboratory and radiological examinations, judge the prognosis of the disease, the tactics of treatment and further care.
Competences
1.After successful completion of the study course, the medical genetics resident has acquired the mandatory competence. The medical resident’s knowledge corresponds the overall understanding of development and examination of a newborn or a child. Able to draw up an appropriate investigation plan for establishing a diagnosis, prescribe examinations. Knowledge of the specific problem is sufficient to understand its essence, to diagnose and, if necessary, provide emergency assistance, implement diagnostic, treatment and preventive measures under the guidance of a specialist.
Assessment
Individual work
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Title
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% from total grade
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Grade
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|---|---|---|
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1.
Individual work |
-
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-
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To search for phenotypic and genotypic correlations of genetic variation using evidence-based electronic databases. Using evidence-based databases of scientific literature, to create an individualised disease description for patients with a syndromic-monogenic, chromosomal or inherited pathology.
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Examination
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Title
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% from total grade
|
Grade
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|---|---|---|
|
1.
Examination |
-
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-
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At the end of the course, teaching staff: 1. Assesses the practical skills acquired by medical genetics resident on a 10-point scale, recording the assessment in the medical resident’s book. 2. Based on a written examination, assesses the theoretical knowledge of the medical genetics resident on a 10-point scale and makes the relevant entry in the medical resident’s book.
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Study Course Theme Plan
FULL-TIME
Part 1
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Seminar
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Modality
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Location
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-
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-
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Topics
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Diagnosis of congenital syndromic and non-syndromic vision defects, differential diagnosis
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Total ECTS (Creditpoints):
3.00
Number of Residency Seminars:
1
Length (weeks):
2
Final Examination:
Residency exam (Theory and practice)
Bibliography
Required Reading
1.
Gross, S. J. Introduction to Perinatal Disorders and Reproductive Genetics. In Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics. https://doi.org/10.1016/b978-0-12-815236-2.00001-1, 2022
2.
Milunsky, A., & Milunsky, J. M. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment: Sixth Edition. In Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment: Sixth Edition. https://doi.org/10.1002/9781444314342, 2010
3.
Leung, P. C. K., & Qiao, J. Human reproductive and prenatal genetics. In Human Reproductive and Prenatal Genetics. https://doi.org/10.1016/C2016-0-05333-0, 2018
4.
Harper, J. C. Preimplantation genetic diagnosis, second edition. In Preimplantation Genetic Diagnosis, Second Edition. https://doi.org/10.1017/CBO9780511581571, 2009
5.
DiMaio, M. S., Fox, J. E., & Mahoney, M. J. Prenatal Diagnosis: Cases and Clinical Challenges. In Prenatal Diagnosis: Cases and Clinical Challenges. https://doi.org/10.1002/9780470696262, 2010
6.
Twining’s Textbook of Fetal Abnormalities. In Twining’s Textbook of Fetal Abnormalities. https://doi.org/10.1016/c2010-0-67979-x, 2015
7.
Paladini, D., & Volpe, P. Ultrasound of Congenital Fetal Anomalies. In Ultrasound of Congenital Fetal Anomalies. https://doi.org/10.4324/9780429462450, 2018
8.
Stevenson, R., Hall, J., Everman, D., & Solomon, B. (Eds.), Human Malformations and Related Anomalies. Oxford, UK: Oxford University Press, 2015
9.
Harper, P. Practical Genetic Counselling (7th ed.). CRC Press, 2011
10.
Cassidy, S., Allanson, J. Management of Genetic Syndromes. Wiley-Blackwell, 2010
11.
Firth, H., Hurst, J. Oxford Desk Reference Clinical Genetics. Oxford, 2007
12.
Read, A, Donnai, D. New clinical Genetics. A guide to Genomics Medicine. Scion, 2021
13.
Dhar, S., Sandesh, N, Eble, T. Hanbook of Clinical adult Genetics and genomics. Elssevier, 2020
14.
Reardson, W. The Bedside Dysmorhologist. Oxford, 2016
15.
Jones, Kenneth L, Marilyn C. Jones, and Miguel. Campo. Smith's Recognizable Patterns of Human Malformation, 2013
16.
Norton, M.E., Scoutt, L., Feldstein, V. Callens Ultrasonography in Obstretics And Gynecology. Elsevier, 2017
17.
Hogge, A., Wilkins, I., Hills, L., Cohlan B. Sanders Structural Fetal Abnormalities. McGraw Hill Education, 2017
18.
Hollak, C., Lachmann, R. Inherited Metabolic Disease in Adults.Oxford, 2016
19.
Katirji, B., Kaminski, J.H, Ruff, R.L. Neuromuscular Disorders in Clinical Paractice Vol1., Vol2.Springer, 2014
20.
Govidan, R., Devarakonda, S. Cancer Genomics for the Clinician. Springer, 2019
21.
Saudubray, F., Van den Berghe, W. Inbron Metabolic diseases. Springer, 2016
Other Information Sources
1.
OMIM. https://omim.org
2.
3.
Phenomizer. HPO. https://hpo.jax.org/app/tools/phenomizer
4.
Varsome. https://varsome.com/
5.
Reprotox. https://www.reprotox.org/
6.
Metagene. https://www.metagene.de/
7.
Vademecum Metabolicum. http://www.vademetab.org/
8.
Metabolic Emergency Protocol. https://www.emergencyprotocol.net/
9.
10.
Treat NMD. https://treat-nmd.org/
11.
NCCN Guidelines. https://www.nccn.org/guidelines/guidelines-detail?category=2&id=1503
12.
Genereviews. https://www.ncbi.nlm.nih.gov/books/NBK1116/