Unilateral Pigmentary Retinopathy

From EyeWiki


Unilateral Pigmentary Retinopathy (UPR, sometimes also referred as unilateral retinitis pigmentosa) refers to a rare, sporadic disorder that involves degeneration and atrophy of the retina in one eye, specifically at the level of the photoreceptors. It can mimic the appearance of Retinitis Pigmentosa (RP); however, UPR typically presents in one eye with a normal fellow eye whereas RP presents bilaterally.[1] [2][3] [4][5] Prevalence is approximately 1 in 4000 with less than 100 cases reported in the literature.[6]


The exact etiology of UPR is unknown. It is thought that somatic mutation during embryogenesis involves cells forming the retina and RPE (retinal pigment epithelium). Due to the mutation occurring early in embryogenesis, it has the potential to also affect germ cell lines and thus poses minimal risk to passing on the mutation to subsequent offspring.[7] [8]

UPR can be inherited in an autosomal dominant, autosomal recessive or X-linked recessive pattern.[9] Cases have been reported with p.R677X germline mutation in the RP1 gene,[10] USH2AW4149R mutation,[7] and PDE6B mutation.[11]

Risk Factors

Genetic predisposition is a risk factor for UPR; however, there are no other known risk factors. Mutations usually involve the rhodopsin gene.


The nature of the pigmentary changes may not reliably predict the diagnosis or functional phenotype. Intraretinal pigmentary deposition, RPE depigmentation, disc pallor, and vessel attenuation can occur in UPR depending on the stage of the disease but are not pathognomonic.[12][13]

Mechanisms for the fundal appearance seen in RP of bone-spicules has been studied in mouse models. [14] The pathophysiology of bone spicule formation seen in UPR occurs due to photoreceptor cell death by apoptosis. This eventually leads to the degeneration of outer retina, causing direct contact with the inner retinal vessels and migration of the RPE cells. Extracellular matrix deposits form as a result of the mislocalized RPE cells that partially seal the contacting vessels.[12] [14]


The criteria of Francois and Verriest for unilateral pigmentary retinopathy (i.e., idiopathic form) are the following: [15]

- functional changes and fundoscopic appearance typical for a primary pigmentary degeneration must be present in the affected eye;

- symptoms retinal degeneration must be absent in the fellow eye with a normal ERG;

- an inflammatory, infectious, vascular cause in the affected eye must be excluded;

- the period of observation must be long enough (over 5 years) to rule out the possibility of asymmetric inherited PR (pigmentary retinopathy) .


In order to establish the diagnosis, it is important to get a history regarding the patient’s subjective visual perception, specifically any issues with seeing peripherally or at night. It is also important to ask about any head or eye trauma, infection, inflammation, and cancer to help rule out other retinopathies with similar fundal presentations.

Physical examination

Figure 1. Fundus photograph of the left eye with UPR [8]. A. Fundus photograph of left eye B. Fundus photograph of the periphery of the left eye. Waxy disc pallor, markedly attenuated retinal arterioles and clumps of bone-spicule pigments scattered in the mid periphery, in all the quadrants of the retina

Visual acuity: Patients present with decreased visual acuity at night (nyclopia); however, visual acuity can be variable, as cases have been reported where visual acuity has ranged from 20/15 to counting fingers.

Fundus exam may reveal mottling of the retinal pigment epithelium (RPE), bone-spicule formations, granular pigmentary disturbances or punched out atrophic RPE lesions, attenuated retinal vessels, and waxy pallor of the optic disc (Figure 1).

Visual field examination: Peripheral visual field loss is common.


Initial symptoms of UPR include nyctalopia, peripheral visual field constriction, and occasionally loss of central visual acuity or loss of visual field.

Diagnostic Imaging

Figure 2. Fundus autofluorescence in UPR [16]. (A) Right eye: decreased autofluorescence in the affected areas of the retina, consistent with chorioretinal atrophy and shadowing by proliferations of the pigment epithelium. (B) Left eye: irregularities of the fundus autofluorescence due to pigmentary changes and drusen of the macula.

Fundus autofluorescence (FAF): Previous cases have presented with a high-density parafoveal ring of increased autofluorescence, marked loss of autofluorescence along the arcades and peripapillary area, and foci of low-density autofluorescence outside the arcades (Figure 2). Other findings have included, streak-like areas of decreased autofluorescence in the macular region. [16]

Ultrasound B-scan: Some cases have been reported to show optic nerve drusen.

OCT (optical coherence tomography): OCT can show cystoid macular edema, which can present as an associated condition.

Electroretinographic (ERG): ERG can be helpful to distinguish UPR from other infectious retinopathies. ERG may show generalized retinal dysfunction in eyes with pigmentary changes. Errera et al.,[12] showed that ERG a-waves ranged from undetectable to mildly reduced in the abnormally pigmented eye with UPR. Additionally in UPR, the b-wave latency and amplitudes are pathological, distinguishing it from syphilitic retinopathy where only amplitudes are reduced.[16]

Laboratory test

Genetic testing and analysis can be useful to investigate the most common mutations involved in inherited retinopathies.

Differential diagnosis

There are several acquired retinal disorders with fundoscopic features that mimic RP, including those arising on a post-traumatic or postinflammatory basis. Unilateral ‘pseudo RP’ has previously been reported in association with choroidal melanoma, [17] ocular trauma, [18] forceps related birth trauma, [19] drug toxicity (chloroquine), [20] cephaloridine, [21] oral contraceptive, [22] diffuse unilateral subacute neuroretinitis, [23] and ocular toxoplasmosis. [24]

- Trauma

o Foreign body (ie, siderosis)

o Blunt trauma (ie, commotion retinae, retinal detachment)

- Drug toxicity

o Chloroquine

o Hydroxychloroquine

o Phenothiazine

o Thioridazine

- Post-infectious states:

o Secondary to syphilis, toxoplasmosis, cytomegalovirus, Lyme disease, rubella, measles, tuberculosis

- Post-inflammatory states

o Secondary to retinal vasculitis, old posterior uveitis, diffuse unilateral subacute neuroretinitis, acute zonal occult outer retinopathy (AZOOR)[24][25]

- Autoimmunity:

o Autoimmune Retinopathy

- Malignancy

o Carcinoma related retinopathy (CAR)[15] [16][26]


General treatment

There is no gold standard or definite treatment for patients with UPR. Supportive treatment is the standard of care. Commonly utilized treatments have included antioxidants, vitamins, and nutritional supplements but have not shown true benefit. Associated conditions, such as cystoid macular edema (CME), should be managed with appropriate medical therapy – typically, carbonic anhydrase inhibitors. However, CME due to intraocular inflammation does not improve with this treatment which might respond to intravitreal, periocular, or oral steroids.[8] [27]

Medical follow up

Medical follow-up should be done to monitor the progression of the disease in the affected eye as well as monitor the fellow eye to ensure the patient is not presenting with an asymmetric form of RP. Annual ocular examinations are recommended to monitor visual acuity and Goldmann visual field.


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