Unilateral retinitis pigmentosa associated with exfoliation syndrome

Abstract

A case of a 71-year-old woman showing pigmentary degeneration of the retina associated with posterior subcapsular cataract in one eye, with a normal fellow eye, is presented. Clinical examinations of the patient were performed in order to rule out the various causes which are known to produce funduscopic features that mimic retinitis pigmentosa. Since these investigations were all negative, the fundus changes were interpreted as a unilateral retinitis pigmentosa. One year later, the patient was re-examined and an exfoliation syndrome was discovered in the affected eye, while the fellow eye was unchanged. An association of unilateral retinitis pigmentosa and exfoliation syndrome in the same eye can be regarded as exceptional. The possibility of a correlation of the pathogenetic mechanisms involved in the development of both conditions is discussed.

Unilateral Retinitis pigmentosa: Clinical and Electrophysiological Report of Four Cases

“…The absence of blood relationship and above all the sporadic occurrence of the unilateral form were explained by the hypothesis that it represents an exceptional recessive gene at the heterozygote state whose appearance would be favored by genetic factors, like altered genes, of a changed unilateral circulatory situation in the area of the ophthalmic artery [9, 10]. Although a large number of bilateral cases have been reported, truly unilateral cases are very rare because the disease often has a different progression in the two eyes [3, 11, 12]. Taking into consideration the rarity of this disease (about 50 cases reported in the literature up to now), this work gives us the possibility to evidence the importance of electrofunctional examination, actually performed and evaluated according to the ISCEV standard [4, 5], in the correct framing of the atypical forms of RP.…”

Unilateral retinitis pigmentosa and cone-rod dystrophy

“…Unilateral retinitis pigmentosa has been reported, associated with a number of other conditions including, heterochromia iridis,7 exfoliation syndrome,8 pit of optic disc,9 temporal arteritis,10 and glaucoma 11. It is not clear whether these conditions are related to the unilateral retinal disease or if they are incidental findings, as only one case each has been reported it is more likely to be the latter.…”