Letters to the editor
A new family linked to the RP1 dominant retinitis pigmentosa locus on chromosome 8q
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EDITOR
Retinitis pigmentosa (RP) is the term
given to a group of inherited retinal degenerations affecting
approximately 1 in every 4000 people.1 Clinical
presentation includes night blindness, a peripheral bone spicule
appearance to the retina, constriction of retinal arterioles, and
visual field loss. RP can be inherited in an autosomal dominant,
autosomal recessive, or X linked fashion, with autosomal dominant RP
(ADRP) accounting for around 20%.2 Within the autosomal
dominant category there is both clinical and genetic heterogeneity.
Nine ADRP loci have been reported to date. Mutations in rhodopsin
account for between 20 and 50% of ADRP3-6 and those in
peripherin/RDS for less than 5%,7 8 while around 20% of
large families are linked to a major locus on chromosome
19q.9 The remaining six loci, for which genes have not yet
been identified, are relatively rare and approximately 15% of families
do not map to any known locus, indicating yet further genetic
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