A comparison of the ocular features in Pierson and Alport syndrome: a case report and literature review

CONCLUSION: Our patient had a later onset form of Pierson syndrome or "FSGS type 5, with or without ocular abnormalities," consistent with his "milder" LAMB2 missense variant. The resemblance of the ocular features in Pierson syndrome and X-linked Alport syndrome suggests that mutations in LAMB2 and COL4A5 have similar effects on basement membranes and the pathogenesis of ocular damage.PMID:37537573 | DOI:10.1080/13816810.2023.2240881

Source: Ophthalmic Genetics - August 3, 2023 Category: Opthalmology Authors: Kieran Gooley Peter Williams Heather Mack Victor Zhu David Langsford Tim Pianta David Barit Khalid Mahmood Judy Savige Source Type: research