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PRPH2 (Peripherin/RDS) mutations associated with different macular dystrophies in a Spanish population: a new
Rosa M Coco1, Juan J Tellería, M Rosa Sanabria
1Instituto de Oftalmobiología Aplicada (IOBA), Universidad de Valladolid, Valladolid, Spain. rosa@ioba.med.uva.es
Purpose:
To assess the occurrence of PRPH2 mutations in patients presenting macular dystrophies and to describe their phenotype-genotype correlation.
Methods:
A total of 32 sporadic cases and 13 individuals from 5 families were studied. The patients presented early onset drusen, suspected pattern dystrophy (including adult-onset foveomacular vitelliform dystrophy [AOFVD]), or any presumed macular dystrophy producing neovascularization or atrophic changes documented before patients reached 50 years of age. In case of atrophy, this could be confined to the macula, which was considered to be central areolar choroidal dystrophy (CACD), or extend to the midperiphery of the retina, which we called diffuse macular dystrophy (DMD). Clinical workup and analysis of PRPH2, EFEMP1, and TIMP3 genes were done.
Results:
Four mutations of the PRPH2 gene were found in 3 sporadic cases and 3 families (n = 11). A p.R46X mutation, previously described in CACD, was found in 3 members of a family with AOFVD and in a sporadic case with DMD. A p.L45F mutation, described before in retinitis pigmentosa, was found in a sporadic case of AOFVD. A p.R195L mutation previously described in CACD was found in 2 members of a family with CACD. The latter was found in a family and a sporadic case (from the same village as the family) and all of them presented DMD. A new p.V2091 mutation was found in a patient with AOFVD.
Conclusions:
New phenotypes were found for known mutations. No phenotype variation was observed in the members of the 3 families. A new mutation in PRPH2 gene was found.
Insights
PRPH2 gene mutations were identified in patients with various macular dystrophies, revealing new phenotypes for known mutations and a novel mutation. This study correlates genetic findings with clinical presentation in these retinal conditions.
Area of Science:
- Ophthalmology
- Genetics
- Molecular Biology
Background:
- Macular dystrophies encompass a group of inherited retinal diseases affecting central vision.
- Genetic mutations are a primary cause of various macular dystrophy subtypes.
- Understanding genotype-phenotype correlations is crucial for diagnosis and potential therapies.
Purpose of the Study:
- To investigate the prevalence of PRPH2 gene mutations in patients diagnosed with macular dystrophies.
- To establish correlations between specific PRPH2 mutations and their associated clinical phenotypes.
- To identify novel mutations within the PRPH2 gene linked to macular degeneration.
Main Methods:
- Studied 32 sporadic cases and 13 individuals from 5 families with macular dystrophies.
- Clinical evaluation included patients with early drusen, pattern dystrophy, adult-onset foveomacular vitelliform dystrophy (AOFVD), central areolar choroidal dystrophy (CACD), or diffuse macular dystrophy (DMD).
- Genetic analysis focused on PRPH2, EFEMP1, and TIMP3 genes.
Main Results:
- Identified four PRPH2 mutations in 3 sporadic cases and 3 families (11 individuals).
- Observed known mutations (p.R46X, p.L45F, p.R195L) associated with AOFVD, DMD, and CACD, sometimes presenting with new phenotypes.
- Discovered a novel PRPH2 mutation (p.V2091) in a patient with AOFVD.
Conclusions:
- PRPH2 mutations can manifest with diverse clinical phenotypes, expanding the known spectrum of these retinal disorders.
- No intrafamilial phenotype variability was noted for the studied PRPH2 mutations.
- The identification of a new PRPH2 mutation highlights the ongoing genetic complexity of macular dystrophies.
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