Dr. Govindaswamy Kumaramanickavel, a researcher, educator, and genetic disorder expert, explains the basics of ocular genetics and genetic counseling.

1. Different types of genetic disorders 
   1. Chromosomal Disorders 
   2. Single Gene Disorders 
   3. Complex Disorders 
   4. Mitochondrial disorders 

Next, we discuss some examples to learn about the different genetic disorders seen by optometrists. Then, we know about the ophthalmic genes and which of the ocular tissues have the most genes affecting them.

Dr. Kumaramanickavel then defines genetic counseling and all the different components that are involved. We walk through the steps that a genetic counseling clinic follows for its patients.

We learn about the challenges of Ophthalmic genetic counseling. We learn about the common ocular genetic counseling scenarios via case studies.

1. Retinitis pigmentosa 
2. Retinoblastoma 
3. Usher syndrome 
4. Rhegmatogenous retinal detachment syndrome 

To conclude the talk, Dr. Govindaswamy Kumaramanickavel explains the current updates in genetic counseling. He talks about the current limitations and drawbacks. Lastly, we learn how best to tackle these challenges. The session ends with a question and answer segment for the live audience.

References

Papers

Dias MF, Joo K, Kemp JA, Fialho SL, da Silva Cunha A Jr, Woo SJ, Kwon YJ. Molecular genetics and emerging therapies for retinitis pigmentosa: Basic research and clinical perspectives. Prog Retin Eye Res. 2018 Mar;63:107-131.

https://pubmed.ncbi.nlm.nih.gov/29097191/

Dimaras H, Corson TW, Cobrinik D, White A, Zhao J, Munier FL, Abramson DH, Shields CL, Chantada GL, Njuguna F, Gallie BL. Retinoblastoma. Nat Rev Dis Primers. 2015 Aug 27;1:15021.

https://pubmed.ncbi.nlm.nih.gov/27189421/

Go SL, Hoyng CB, Klaver CC. Genetic risk of rhegmatogenous retinal detachment: a familial aggregation study. Arch Ophthalmol. 2005 Sep;123(9):1237-41.

https://pubmed.ncbi.nlm.nih.gov/16157805/

Richards AJ, Scott JD, Snead MP. Molecular genetics of rhegmatogenous retinal detachment. Eye (Lond). 2002 Jul;16(4):388-92.

https://pubmed.ncbi.nlm.nih.gov/12101445/

Kent C., Genetic Testing: New Resources and Challenges, Review of Ophthalmology. March 2015

https://www.reviewofophthalmology.com/article/genetic-testing-new-resources–challenges