Rare Disease Show Episode 30 - Understanding Choroideremia ft. Dr. Chilukuri Sharat Babu

#rarediseases #rarediseaseshow #choroideremia Medical Dialogues presents a rare disease series, exploring the world of uncommon and often misunderstood medical conditions. Rare diseases affect only a small percentage of the population, yet they pose significant diagnostic and management challenges. Through this series, we aim to bring expert insights in a simplified and engaging way to help viewers better understand these complex disorders. In today’s episode, we explore Choroideremia, a rare inherited retinal disorder that causes progressive vision loss, primarily affecting males. The condition is caused by mutations in the CHM gene, which leads to the deficiency of a protein known as Rab Escort Protein-1 (REP1), essential for the normal functioning and survival of retinal cells. Over time, Choroideremia results in the gradual degeneration of the retina, retinal pigment epithelium, and choroid—the vascular layer that supplies nutrients to the retina. Patients often experience night blindness during childhood, followed by progressive loss of peripheral vision and, eventually, central vision impairment later in life. Because the disease progresses slowly over decades, early diagnosis and regular monitoring are critical for preserving visual function and identifying candidates for emerging therapies. In this episode, Dr. Chilukuri Sharat Babu, Chief Medical Director of Sharat Maxivision Eye Hospitals and a distinguished ophthalmologist with more than three decades of experience, shares his expert insights while addressing key questions from the Medical Dialogues team. He explains the underlying genetic basis of Choroideremia, the characteristic pattern of vision loss, and how the disease affects patients’ daily lives. The discussion highlights the importance of genetic testing in establishing an accurate diagnosis, particularly in young patients presenting with symptoms such as night blindness. Dr. Babu also discusses the role of advanced retinal imaging and long-term monitoring in tracking disease progression. Furthermore, he sheds light on the exciting advances in ocular gene therapy, including the latest findings from clinical trials, and explores other promising research avenues such as stem cell-based therapies and retinal implants that may offer hope to patients in the future. Through this comprehensive discussion, viewers will gain a deeper understanding of Choroideremia and the evolving landscape of treatment options for this rare inherited eye disease. Check full updates on Medical Dialogues Also check out - Medical Dialogues Academy, a renowned academic wing of Medical Dialogues - India's premier health and news online portal, proudly presents this comprehensive course tailored for healthcare professionals eager to delve into the realm of medical journalism. 🔗 Enroll Today: https://academy.medicaldialogues.in/c... 📚 Explore More With Us: 📌 Medical Content Writing: https://academy.medicaldialogues.in/c... 📌 Certificate Course in Pharmaceutical Medico-Marketing: https://academy.medicaldialogues.in/c... Join us on this enlightening journey and become a part of a community pushing the boundaries of healthcare communication and reporting. Get the latest medical and health news at medicaldialogues.in Follow us on Twitter:   / medicaldialogs   Facebook:   / medicaldialogues   Instagram:   / medicaldialogues   LinkedIn:   / medical-dialogues   Website: https://medicaldialogues.in/