Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa

Area of Science:

• Genetics
• Ophthalmology
• Molecular Biology

Background:

• The murine retinal degeneration slow (rds) gene mutation causes abnormal photoreceptor development and degeneration.
• This murine model shares similarities with human retinitis pigmentosa, a group of hereditary retinal degenerations.

Purpose of the Study:

• To investigate the role of the human homologue of the rds gene (RDS) in autosomal dominant retinitis pigmentosa.
• To identify mutations in the RDS gene associated with this inherited eye disease.

Main Methods:

• Genetic analysis of families with autosomal dominant retinitis pigmentosa.
• Identification and characterization of mutations in the human RDS gene.

Main Results:

• Three distinct mutations in the human RDS gene were identified.
• These RDS gene mutations cosegregated with autosomal dominant retinitis pigmentosa in affected families.

Conclusions:

• Mutations in the RDS gene are a cause of autosomal dominant retinitis pigmentosa.
• The RDS locus is implicated in some forms of inherited retinal degeneration.