Clinical and Genetic Findings in a Cohort of Patients with PRPF31-associated Retinal Dystrophy.
Am J Ophthalmol
; 2024 Jun 21.
Article
in En
| MEDLINE
| ID: mdl-38909744
ABSTRACT
PURPOSE:
The purpose of our study was to assess the phenotypic and genotypic spectrum in a large cohort of patients with PRPF31-associated retinal dystrophy.DESIGN:
Retrospective cohort studyMETHODS:
In this retrospective chart review study, we collected cross-sectional data on the phenotype and genotype of patients with PRPF31-associated retinal dystrophy from the clinics for inherited retinal dystrophies at the University of Tuebingen and the local RetDis database and biobank. Patients underwent thorough ophthalmological examinations and genetic testing.RESULTS:
Eighty-six patients from 61 families were available for clinical assessment, while genomic DNA was available for 111 individuals (index patients and family members). Fifty-three different disease-associated variants were observed in our cohort. Point mutations were the most common class. All but two patients exhibited features of a typical Retinitis pigmentosa (RP). One patient showed a cone-rod-dystrophy pattern. One mutation carrier revealed no signs of a retinal dystrophy. There was a statistically significant better visual acuity for patients with large deletions in the 20-39 age group. Cystoid macular edema was common in those with preserved central retina and showed an association with female sex.CONCLUSION:
Our study confirms high phenotypic variability in disease onset and age at which legal blindness is reached in PRPF31-linked RP. Non-penetrance is commonly documented in family history, although poorly represented in our study, possibly indicating that true asymptomatic mutation carriers are rare if followed-up over lifetime with thorough ophthalmologic workup.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Language:
En
Journal:
Am J Ophthalmol
Year:
2024
Document type:
Article
Affiliation country:
Alemania