Unilateral retinitis pigmentosa: 30 years follow-up

Abstract

This case report depicts the clinical course of a female patient with unilateral retinitis pigmentosa (RP), who presented first in 1984 at the age of 43 years. At the beginning, there were cells in the vitreous leading to the diagnosis of uveitis with vasculitis. Within 30 years, the complete clinical manifestation of RP developed with bone spicule-shaped pigment deposits, pale optic disc, narrowed arterioles, cystoid macular oedema, posterior subcapsular cataract, concentric narrowing of the visual field and undetectable electroretinogram signal. At the age of 72 years, there are still no signs of retinal dystrophy in the other eye.

Inherited Retinal Degenerations: Current Landscape and Knowledge Gaps

“… 18 Additionally, the identification and characterization of modifier genes, which themselves do not cause disease but “modify” the disease severity caused by other disease causing mutations is in its infancy, but has great potential for identifying new targets and approaches for treatment. Lastly, it may be worthwhile to evaluate patients with unilateral disease for somatic mutations 19 , 20 or other potential causes of retinal degeneration such as posterior uveitis, 21 acute zonal occult outer retinopathy, 22 or medication toxicity. 23 , 24 …”

Lateral thinking – Interocular symmetry and asymmetry in neurovascular patterning, in health and disease

“…Uniocular pigmentary retinopathy is usually caused by either inflammation or trauma. Unilateral retinitis pigmentosa (RP) has long been proposed (Dreisler, 1948) and case reports exist in the literature (Farrell, 2009;Joseph, 1951;Kolb and Galloway, 1964;Mehra, 1962;Spadea et al, 1998;Thakur and Puri, 2010;Weller et al, 2014). Indeed, the prevalence of unilateral disease has been reported to vary between 0.02 and 5% depending on the population studied (Gauvin et al, 2016) but its existence has been a controversial one.…”

Unilateral retinitis pigmentosa: Case report and review of the literature

“…Farrell, et al [12], had two patients who were followed for 8 years and 14 years, respectively, and in both cases the unaffected eye had no signs of RP. Weller, et al [5], had one patient who showed no changes in the unaffected eye over a time span of 30 years. However, Gauvin and colleagues [33], had a patient present with unilateral retinitis pigmentosa who was seen eight separate times over thirty years during which bilateral retinitis pigmentosa developed.…”

“…There are few reports of unilateral retinitis pigmentosa in the literature, and some have complicating factors or represent extremely asymmetric retinitis pigmentosa [1,[5][6][7][8][9][10][11]. In retrospective reviews of those with retinitis pigmentosa, between 0.002 and 5% of the study populations had unilateral retinitis pigmentosa [1,3,12].…”