MFRP-Associated Retinopathy and Nanophthalmos in Two Irish Probands: A Case Report

The conjunction of nanophthalmos (NO) and retinitis pigmentosa (RP) provides challenges to effective clinical management while narrowing the genetic spectrum for targeted molecular diagnostics. This case study describes two not knowingly related adult cases of MFRP-associated retinopathy and nanopht...

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Bibliographic Details
Published in:Case Reports in Ophthalmology
Main Authors: Ann O’Connell, Julia Zhu, Kirk A.J. Stephenson, Laura Whelan, Adrian Dockery, Jacqueline Turner, James J. O’Byrne, G. Jane Farrar, David Keegan
Format: Article
Language:English
Published: Karger Publishers 2022-12-01
Subjects:
retinitis pigmentosa
nanophthalmos
mfrp gene
inherited retinal degeneration
ocular biometry
Online Access:https://www.karger.com/Article/FullText/527260

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https://www.karger.com/Article/FullText/527260

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