MFRP -Associated Retinopathy and Nanophthalmos in Two Irish Probands: A Case Report
Citation:
O'Connell, A. and Zhu, J. and Stephenson, K.A.J. and Whelan, L. and Dockery, A. and Turner, J. and O'Byrne, J.J. and Farrar, G.J. and Keegan, D., MFRP -Associated Retinopathy and Nanophthalmos in Two Irish Probands: A Case Report, Case Reports in Ophthalmology, 2022, 13, 3, 1015-1023Download Item:
Abstract:
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 nanophthalmos (MARN). Structural features including short axial lengths (mean
16.4 mm), steep keratometry (mean 49.98 D), adult-onset signs, and symptoms of retinal
dystrophy and acquired disease (i.e., cataract, angle-closure glaucoma) were evident in both
cases. Pathogenic variants in the MFRP gene impair both prenatal eye growth and childhood
emmetropization while also leading to RPE/outer retinal degeneration in 75% of cases. We
discuss the “small-eye” phenotype spectrum and associated defining characteristics, molecular
mechanisms with particular focus on MFRP-associated NO with RP features (MARN), the
spectrum of visual morbidities (e.g., extreme refractive error, amblyopia, cystoid macular lesions,
early cataract) and the challenges of their treatment/surgical management.
Author's Homepage:
http://people.tcd.ie/gjfarrar
Author: Farrar, Gwyneth
Type of material:
Journal ArticleCollections
Series/Report no:
Case Reports in Ophthalmology;13;
3;
Availability:
Full text availableKeywords:
Retinitis pigmentosa, Nanophthalmos, MFRP gene, Inherited retinal degeneration, Ocular biometryDOI:
http://dx.doi.org/10.1159/000527260Metadata
Show full item recordLicences: