Comments:
Hi Dr. Sherman,
Thank you for forwarding along Dr. Legge’s case series! This is quite interesting given the pedigree she has built and the beautiful images of the different family members she has. My comments/questions are below:
- The phenotype in the AR case, daughter E in family 2, is interesting given its resemblance to bilateral CSCR. I can think of one similar patient at SUNY who has been monitored who carries a dx of bilateral chronic CSCR without any history of exogenous steroid use and who doesn’t fit the typical high stress, type-A personality. We should certainly keep AR Best disease on our differential in these cases.
- Daughter E is also an interesting example of how complex the genetic of inherited retinal disease can get with the possibility of AR vs. compound heterozygosity.
- It is also interesting that the second mutation E’s daughter carries (the Leu134Val) did not cause any phenotypic changes whatsoever compared to the first family with the Thr307Ile mutation who all exhibited profound disease. In my opinion, this illustrates the utility of genetic testing nicely when counselling patients and their family members with regards to family planning and potential future risks of propagating mutations and passing on the disease to offspring.
- Dr. Legge mentions noting “fibrotic pillars” in more advanced stages of the disease in a few family members.
Thanks for sharing these interesting cases, I’ll be looking forward to seeing the finished product!
Best,
Zach
Zachary Turple, OD, MSc
Ocular Disease Resident 2024-2025
SUNY College of Optometry University Eye Center
NYC Health + Hospitals Woodhull Hospital
