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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease alport syndrome
Symptom C0024441|macular hole
Sentences 5
PubMedID- 20450313 Purpose: to describe the evolution of a giant macular hole in a patient with alport syndrome and review the literature.
PubMedID- 22338558 Early lamellar macular hole in alport syndrome: case report and review of the literature.
PubMedID- 25383810 Conclusion: macular hole in alport syndrome results from basement membrane weakness and an abnormal vitreoretinal interface.
PubMedID- 21174527 Giant macular hole in alport syndrome.
PubMedID- 22695059 Purpose: to report the seventh case of giant macular hole in a patient with alport syndrome, review the literature, and propose a pathophysiological mechanism.

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