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Klin Monbl Augenheilkd. 1998 May;212(5):305-8.

[Mutational screening of peripherin/RDS genes, rhodopsin and ROM-1 in 69 index cases with retinitis pigmentosa and other retinal dystrophies].

[Article in French]

Author information

1
Hôpital Ophtalmique Jules Gonin, Lausanne.

Abstract

PURPOSE:

Phenotypic, genetic and molecular characterization of 69 index patients with retinitis pigmentosa (RP) and various inherited retinal diseases.

PATIENTS AND METHOD:

patients went through complete ocular examination and blood samples were drawn for mutational screening of three candidate genes: rhodopsin (RHO), peripherin/RDS, and ROM-1.

RESULTS:

the most frequent type of RP among our population was the autosomal dominant (43.6%). Three RHO mutations were found among the RP patients. A RDS mutation was detected in three unrelated families segregating dominant macular dystrophy.

DISCUSSION AND CONCLUSIONS:

18% of the autosomal dominant RP patients presented a RHO mutation; RDS R172W mutation was present in 25% of the dominant macular dystrophies.

PMID:
9677563
[Indexed for MEDLINE]

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