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Phenotypic variability in PRPH2 as demonstrated by a family with incomplete penetrance of autosomal dominant cone-rod dystrophy.
- Source :
-
Documenta ophthalmologica. Advances in ophthalmology [Doc Ophthalmol] 2023 Jun; Vol. 146 (3), pp. 267-272. Date of Electronic Publication: 2023 Jan 07. - Publication Year :
- 2023
-
Abstract
- Introduction: Mutations in the peripherin-2 gene (PRPH2) are a common cause of inherited retinal dystrophies well known for their phenotypic diversity. We describe a novel presentation of the c.623G > A; p.(Gly208Asp) variant in association with cone-rod dystrophy and reduced penetrance.<br />Case Description: A 39-year-old man presents with a history of decreased visual acuity, photophobia, and dyschromatopsia. Fundus examination was largely unremarkable while spectral-domain optical coherence tomography (SD-OCT) demonstrated diffuse granularity at the ellipsoid zone. Full-field electroretinogram (ffERG) revealed a cone-rod dystrophy. Genetic testing revealed a heterozygous pathogenic variant, c.623G > A; p.(Gly208Asp), in the PRPH2 gene, also found in an unaffected brother. The 50-year-old brother had no visual symptoms and no findings on fundus examination. SD-OCT showed normal retinal architecture and ffERG was within normal limits bilaterally.<br />Conclusion: This case report broadens the known phenotypic presentations of PRPH2-associated retinopathy and suggests that the PRPH2 variant c.623G > A; p.(Gly208Asp) may be associated with reduced penetrance.<br /> (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)
Details
- Language :
- English
- ISSN :
- 1573-2622
- Volume :
- 146
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Documenta ophthalmologica. Advances in ophthalmology
- Publication Type :
- Academic Journal
- Accession number :
- 36609934
- Full Text :
- https://doi.org/10.1007/s10633-022-09916-5