Bestrophinopathies

Bestrophinopathies

🎙️ New Podcast! Dive into Bestrophinopathies – BVMD, ARB, Pattern Dystrophy & ADVIRC. Learn their key differences, genetics & imaging findings in just 10 mins! 🔬👁️ #Retina #Ophthalmology

"CHRPEs: How to Differentiate and When to Refer? 🔍👁️ Stay tuned for key clinical insights! #EyeEducationClub #Ophthalmology #Retina"

Welcome to the Eye Education Club Podcast! I'm Dr. Prathiba Ramakrishnan, your host. In today’s episode, we’ll discuss CHRPE lesions—how to differentiate typical CHRPE from FAP-associated CHRPE and when to refer for further evaluation. Let’s dive in. 1)Berk T, Cohen Z, McLeod RS, Parker JA. Congenital hypertrophy of the retinal pigment epithelium as a marker for familial adenomatous polyposis. Dis Colon Rectum. 1988 Apr;31(4):253-7 2)Bonnet LA, Conway RM, Lim LA. Congenital Hypertrophy of the Retinal Pigment Epithelium (CHRPE) as a Screening Marker for Familial Adenomatous Polyposis (FAP): Systematic Literature Review and Screening Recommendations. Clin Ophthalmol. 2022;16:765-774.

PHOMS : Neuro-ophthalmology's Challenge

PHOMS can mimic various optic disc diseases, potentially leading to misdiagnosis in clinical settings. Understanding its pathogenesis and clinical signs is crucial for differentiating it from other conditions. This episode discusses the differential diagnoses and how to identify them through imaging techniques. References 1) Heath Jeffery, R. C., & Chen, F. K. (2023). Peripapillary hyperreflective ovoid mass-like structures: Multimodal imaging-A review. Clinical & experimental ophthalmology, 51(1), 67–80. https://doi.org/10.1111/ceo.14182 2)Fraser, J. Alexander MD; Sibony, Patrick A. MD; Petzold, Axel MD, PhD; Thaung, Caroline MB, ChB, DPhil; Hamann, Steffen MD, PhD;  for the ODDS Consortium. Peripapillary Hyper-reflective Ovoid Mass-like Structure (PHOMS): An Optical Coherence Tomography Marker of Axoplasmic Stasis in the Optic Nerve Head. Journal of Neuro-Ophthalmology 41(4):p 431-441, December 2021. | DOI: 10.1097/WNO.0000000000001203 3)Maalej, R., Bouassida, M., Picard, H., Clermont, C. V., & Hage, R. (2024). Are Peripapillary Hyperreflective Ovoid Mass-like Structures with an Elevated Optic Disc Still a Diagnosis Dilemma?. Ophthalmology, S0161-6420(24)00555-4. Advance online publication. https://doi.org/10.1016/j.ophtha.2024.09.007 4)Malmqvist, L., Bursztyn, L., Costello, F., Digre, K., Fraser, J. A., Fraser, C., Katz, B., Lawlor, M., Petzold, A., Sibony, P., Warner, J., Wegener, M., Wong, S., & Hamann, S. (2018). The Optic Disc Drusen Studies Consortium Recommendations for Diagnosis of Optic Disc Drusen Using Optical Coherence Tomography. Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society, 38(3), 299–307. https://doi.org/10.1097/WNO.0000000000000585 5)Lyu, I.J., Park, KA. & Oh, S.Y. Association between myopia and peripapillary hyperreflective ovoid mass-like structures in children. Sci Rep 10, 2238 (2020). https://doi.org/10.1038/s41598-020-58829-3.

HCQ retinopathy and diagnostic tools

This episode continues the discussion on HCQ retinopathy, focusing on the pathophysiology, clinical features, and diagnostic tools essential for detecting retinal toxicity.

"Screening Smart: HCQ Retinopathy Guidelines for Eye Health Professionals"

HCQ Retinopathy can lead to irreversible vision loss, making regular screening essential for patients on HCQ medication. With numerous guidelines on when and who should be screened, this podcast episode compares key recommendations, aiding clinicians in decision-making. References 1) https://www.aao.org/education/clinical-statement/revised-recommendations-on-screening-chloroquine-h 2) https://doi.org/10.1038/eye.2016.298 3) https://ranzco.edu/wp-content/uploads/2021/04/RANZCO-Guidelines-for-screening-for-HCQ-Retinopathy.pdf 4)https://www.rcophth.ac.uk/wp-content/uploads/2020/12/Hydroxychloroquine-and-Chloroquine-Retinopathy-Monitoring-Guideline.pdf