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Arch Soc Esp Oftalmol. 2000 Apr;75(4):281-6.

[Retinitis pigmentosa, pattern dystrophy and fundus flavimaculatus not related to mutations in rhodopsine, peripherin/RDS and ROM-1 genes].

[Article in Spanish]

Author information

1
Instituto Investigaciones Oftalmológicas Castroviejo, Universidad Complutense de Madrid, Fundación Jiménez Díaz, Universidad Autónoma de Madrid, España.

Abstract

PURPOSE:

Several families have been described in which a variety of retinal dystrophies were apparently caused by a mutation in the peripherin/RDS gene. We present clinical and genetic findings in a new family affected with a retinal dystrophy with features of retinosis pigmentosa, pattern dystrophy and fundus flavimaculatus in which a mutation in the peripherin/RDS gene has been ruled out.

METHODS:

A screening in the rhodopsin, peripherin/RDS and ROM1 genes was done in the affected members of the family by PCR amplification and SSCP (single strand conformation polymorphism) analysis.

RESULTS:

No mutation was found in any of the family members.

CONCLUSIONS:

Mutations in other genes may be involved in retinal dystrophies.

PMID:
11151159
[Indexed for MEDLINE]

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