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Retinitis punctata albescens, autosomal dominant

MedGen UID:
864795
•Concept ID:
C4016358
•
Finding
Synonym: RETINITIS PUNCTATA ALBESCENS, AUTOSOMAL DOMINANT
 
OMIM®: 179605

Recent clinical studies

Etiology

Towards mutation-independent silencing of genes involved in retinal degeneration by RNA interference.
Cashman SM, Binkley EA, Kumar-Singh R
Gene Ther 2005 Aug;12(15):1223-8. doi: 10.1038/sj.gt.3302512. PMID: 15877050

Diagnosis

A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens.
Kajiwara K, Sandberg MA, Berson EL, Dryja TP
Nat Genet 1993 Mar;3(3):208-12. doi: 10.1038/ng0393-208. PMID: 8485575

Therapy

Towards mutation-independent silencing of genes involved in retinal degeneration by RNA interference.
Cashman SM, Binkley EA, Kumar-Singh R
Gene Ther 2005 Aug;12(15):1223-8. doi: 10.1038/sj.gt.3302512. PMID: 15877050

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      Related literature resources in PubMed

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