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Frail inner limiting membrane maculopathy suggested to describe a new retinal Alport-like condition with two variants in three generations of females.

Sekita Dalsgård PetersenMohamed BelmouhandJens Michael HertzChristina FagerbergCharlotte Brasch-AndersenJakob GrauslundFrancis L MunierMichael Larsen
Published in: Ophthalmic genetics (2024)
A new condition with two retinal Alport-like phenotypes was found. No abnormalities of the kidneys and lens were found, neither abnormalities of the type IV collagen genes related to Alport syndrome. Homology with retinal abnormalities seen in patients after surgical removal of the inner limiting membrane of the retina suggests that this is where the defect is located. We therefore suggest that the new retinal phenotypes and similar phenotypes can be described with the new definition "frail inner limiting membrane maculopathy."
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