Unilateral retinitis pigmentosa and cone-rod dystrophy

Abstract

Purpose:The purpose of this paper is to report 14 new cases of unilateral retinitis pigmentosa and three new cases of cone-rod dystrophy and to compare the similarities and dissimilarities to those found in the bilateral forms of these disorders.Methods:A total of 272 cases of retinitis pigmentosa and 167 cases of cone-rod dystrophy were studied by corneal full field electroretinograms and electrooculograms. The student t-test was used to compare categories.Results:The percentage of familial and nonfamilial cases was the same for the bilateral and unilateral forms of the disease. In our series, unilateral retinitis pigmentosa makes up approximately 5% of the total population of retinitis pigmentosa, while unilateral cone-rod dystrophy makes up only about 2% of the total. In the familial forms of unilateral retinitis pigmentosa the most common inheritance pattern was autosomal dominant and all affected relatives had bilateral disease.Conclusion:Unilateral retinitis pigmentosa and cone-rod dystrophy appear to be directly related to the more common bilateral forms of these disorders. The genetic mechanisms which account for asymmetric disorders are not currently understood. It may be a different unidentified mutation at a single loci or it is possible that nonlinked mutations in multiple loci account for this unusual disorder.

Unilateral retinitis pigmentosa occurring in an individual with a mutation in theCLRN1gene

“…Unilateral manifestation of this disease, or ‘unilateral RP’, is reported to be very rare. Since its first description in 1948 by Dreisler,1 <100 cases of unilateral RP have been reported in the literature 2. Furthermore, despite clear clinical and more recently, genetic, evidence supporting existence of true unilateral RP,3–6 there remains controversy surrounding the mechanism and existence of this clinical entity.…”

Unilateral retinitis pigmentosa: 30 years follow-up

“…Farrell18 found a rate of unilateral RP of 5% in their study population. This rate is quite high compared with the single case reports in the literature.…”

Retinose pigmentada unilateral secundária a trauma: relato de caso

“…Na entidade genética a atrofia coriorretiniana pigmentada paravenosa é descrita manifestação unilateral e está bem caracterizada mutação genômica no gene CRB1 (3) . Mecanismos genéticos ainda não bem estabelecidos poderiam causar expressões diferentes entre os dois olhos (8,9) . A discussão sobre diferentes hipóteses diagnósticas e condutas a serem tomadas é fundamental para o esclarecimento do prognóstico do paciente em casos como o apresentado, direcionando adequadamente seu acompanhamento.…”