Clinical Ophthalmic Genetics and Genomics

Section I. Genomics and the eye 1. Genetic disorders and genetic variants 2. Genetic testing techniques 3. Genetic variant interpretation 4. Genetic counselling and family support 5. Syndromic conditions and the eye 6. Ophthalmic phenotyping. Electrophysiology 7. Ophthalmic phenotyping. Imaging 8. Gene therapy and treatment trials

Section II. Genetic disorders affecting the anterior segment 9. Genetic disorders affecting the cornea 10. Anterior segment developmental disorders 11. Cataract 12. Ectopia lentis

Section III. Genetic disorders affecting the posterior segment 13. Genetic disorders affecting the retina, choroid and RPE 14. Familial vitreoretinopathies 15. Genetic disorders affecting the optic nerve

Section IV. Genetic disorders affecting both the anterior and posterior segment 16. Developmental eye disorders 17. Aniridia 18. Albinism

Section V. Genetic disorders affecting ocular motility 19. Infantile nystagmus 20. Congenital cranial dysinnervation disorders 21. Progressive external ophthalmoplegia

Section VI. Tumour predisposition syndromes 22. Phakomatoses 23. Naevoid basal cell carcinoma syndrome 24. Congenital hypertrophy of retinal pigment epithelium (CHRPE) 25. Retinoblastoma

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• Genética médica
• Oftalmologia

ophthalmology; clinical ophthalmology; clinical genomics; genomic medicine; human genomics; human genetics; next generation sequencing; genome sequencing; exome sequencing; NGS; next generation sequencing; ophthalmology genetic testing techniques; retinal disease; syndromic inherited retinal disease; vitreoretinopathies childhood cataract; lens abnormalities; genetic testing; corneal disease; albinism; anterior segment dysgenesis; glaucoma; developmental eye abnormalities; nystagmus; ocular motility disorder; optic neuropathies; phacomatoses; retinoblastoma; genetic eye disease; genetic eye disorders; gene therapy; genomic therapeutics