A novel IMPDH1 mutation (Arg231Pro) in a family with a severe form of autosomal dominant retinitis pigmentosa.
OBJECTIVE
To define ophthalmic findings in a family with autosomal dominant retinitis pigmentosa and a novel IMPDH1 gene mutation.


METHODS
Genetic and observational family study.


METHODS
Sixteen affected members of a family with autosomal dominant retinitis pigmentosa.


METHODS
Ophthalmic examination, including best-corrected visual acuity (VA), slit-lamp biomicroscopy, direct and indirect ophthalmoscopy, Goldmann kinetic perimetry, and electroretinography were performed. Deoxyribonucleic acid single-strand conformation polymorphism (SSCP) analysis was done. Abnormal polymerase chain reaction products identified by SSCP analysis were sequenced bidirectionally.


RESULTS
All affected patients had the onset of night blindness within the first decade of life. Ocular findings were characterized by diffuse retinal pigmentary degenerative changes, marked restriction of peripheral visual fields, severe loss of VA, nondetectable electroretinography amplitudes, and a high frequency of posterior subcapsular lens opacities. Affected members were observed to harbor a novel IMPDH1 gene mutation.


CONCLUSIONS
A novel IMPDH1 gene mutation (Arg231Pro) was associated with a severe form of autosomal dominant retinitis pigmentosa. Families affected with a severe form of this genetic subtype should be investigated for a mutation in the IMPDH1 gene.
Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois 60612, USA.
Sandeep
S
Grover
Gerald A
GA
Fishman
Edwin M
EM
Stone
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001120:Arginine / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D004596:Electroretinography; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007168:IMP Dehydrogenase / Q000235:genetics*; D008297:Male; D009755:Night Blindness / Q000175:diagnosis / Q000235:genetics; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011392:Proline / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics*; D014792:Visual Acuity; D014794:Visual Fields
D001120:Arginine; D011392:Proline; D007168:IMP Dehydrogenase; C488211:IMPDH1 protein, human