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RDH12 retinopathy: novel mutations and phenotypic description
Donna S Mackay1, Arundhati Dev Borman, Phillip Moradi
1Department of Genetics, Institute of Ophthalmology, London, UK. d.mackay@ucl.ac.uk
Molecular Vision
|November 9, 2011
Summary
Mutations in the retinal dehydrogenase 12 (RDH12) gene cause a severe early-onset retinal dystrophy. This study identified 17 new RDH12 mutations, characterizing the associated clinical features.
Area of Science:
- Genetics
- Ophthalmology
- Molecular Biology
Background:
- Autosomal recessive retinal dystrophies are a group of inherited eye diseases.
- Mutations in specific genes can lead to these conditions, affecting vision from an early age.
Purpose of the Study:
- To identify patients with autosomal recessive retinal dystrophy caused by mutations in the retinal dehydrogenase 12 (RDH12) gene.
- To describe the clinical characteristics and phenotype associated with RDH12 mutations.
Main Methods:
- Clinical evaluation of patients with suspected retinal dystrophy.
- Screening of the RDH12 gene for mutations using microarray and Sanger sequencing.
- Analysis of mutation segregation within families and in silico pathogenicity prediction.
Main Results:
- Bi-allelic RDH12 mutations were identified in 29 families, including 17 novel mutations.
- Patients presented with severe, early-onset rod-cone dystrophy characterized by progressive retinal atrophy and pigmentary changes.
- Ophthalmic imaging revealed significant retinal thinning and macular abnormalities.
Conclusions:
- RDH12 mutations are a significant cause of early-onset retinal dystrophy, accounting for approximately 7% of cases in the studied cohort.
- The distinct clinical phenotype aids in identifying patients for RDH12 gene screening.
- The term 'RDH12 retinopathy' is proposed for this specific condition.
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