Unilateral pigmentary retinopathy: a retrospective case series

Abstract

Purpose To review the clinical characteristics and address the aetiology in a group of patients presenting with unilateral retinal pigmentary changes, best described as unilateral pigmentary retinopathy (UPR). Methods The cohort of 42 patients was identified retrospectively from the Moorfields Eye Hospital electrophysiology database. All had undergone full‐field [electroretinography (ERG)] and pattern electroretinography (PERG), with 13 additionally having multifocal ERG (mfERG). The clinical findings, fundus photographs and fundus autofluorescence (AF) images were reviewed. Results All index eyes showed ERG evidence of generalized photoreceptor dysfunction with most showing a similar degree of rod and cone involvement. However, although the fellow eyes all had a normal fundus examination, there were bilateral but asymmetrical ERG abnormalities in eight patients and a further four patients had PERG evidence of macular dysfunction in the fellow eye. A relevant medical history or the diagnosis of an ophthalmologic entity that might be related to the unilateral fundus changes was ascertained in 15 cases (~36%) including acute zonal occult outer retinopathy, trauma, systemic malignancy or autoimmune disease, retinal vasculitis, presumed pregnancy‐related choroidal ischaemia and meningitis. Two patients had a family history of retinitis pigmentosa (RP; 4.8%). Conclusion The underlying aetiology in most cases of UPR cannot accurately be identified, but an heritable cause is unlikely. Aspects of the history clearly suggest an acquired disorder in some patients. Twenty‐five patients (60%) with nongenetic UPR did not adhere to the pattern of rod greater than cone dysfunction that occurs in RP (rod–cone dystrophy), and the pattern of rod > cone dysfunction seen in true RP is thus not a feature of most patients with UPR.

Diagnostic Yield of an Inherited Retinal Disease Gene Panel in Retinopathy of Unknown Origin

“…In a recent study by Errera et al 21 on patients with UPR, only 4.8% of patients ultimately received a genetic diagnosis. One patient carried a heterozygous pathogenic variant in RP1 , and another female patient carried a heterozygous pathogenic variant in RPGR .…”

“…6 Considering the available evidence, it seems reasonable to pursue genetic testing when faced with UPR in the presence of a suggestive family history or of strong clinical indicators of possible RP. 21 Absence of these features should lead to investigate alternative etiologies. Regarding APR and AZOOR, no data were available in the literature concerning genetic testing for IRD genes.…”

Diagnostic Yield of an Inherited Retinal Disease Gene Panel in Retinopathy of Unknown Origin

“…In a recent study by Errera et al 21 on patients with UPR, only 4.8% of patients ultimately received a genetic diagnosis. One patient carried a heterozygous pathogenic variant in RP1 , and another female patient carried a heterozygous pathogenic variant in RPGR .…”

“…6 Considering the available evidence, it seems reasonable to pursue genetic testing when faced with UPR in the presence of a suggestive family history or of strong clinical indicators of possible RP. 21 Absence of these features should lead to investigate alternative etiologies. Regarding APR and AZOOR, no data were available in the literature concerning genetic testing for IRD genes.…”

Bilateral Pigmentary Retinopathy in a Pseudophakic Patient With Chronic Pigment Dispersion Syndrome Following Pars Plana Vitrectomy for Vitreous Opacities

“…7 Unilateral pigmentary retinopathy is seen in eyes with acute zonal acute outer retinopathy, trauma, infections like syphilis, and choroidal melanoma. 8,9 While diffuse pigment deposition in the posterior pole occurs in many different diseases, the most common association is retinitis pigmentosa. Since these cases of pigmentary retinopathy result from damage to the choroid, retinal pigment epithelium, and retina, the pigment deposits are usually confined to the outer retina.…”

“…The differential diagnosis of an eye with bilateral pigmentary retinopathy includes inherited retinal diseases with or without systemic disease, infectious chorioretinitis, inflammatory chorioretinitis, chronic subretinal fluid, retinal detachment, and toxic retinopathy 7. Unilateral pigmentary retinopathy is seen in eyes with acute zonal acute outer retinopathy, trauma, infections like syphilis, and choroidal melanoma 8,9. While diffuse pigment deposition in the posterior pole occurs in many different diseases, the most common association is retinitis pigmentosa.…”

Unilateral Retinitis Pigmentosa Associated with Possible Ciliopathy and a Novel Mutation

“…In patient 2 the ffERG was affected in both eyes, demonstrating a bilateral retinal dystrophy. Similarly, Errera et al reported 42 patients with URP, where eight patients had subnormal ffERG findings in the fellow eye [ 4 ]. The chorioretinal atrophic changes in the peripapillary area along with increased autofluorescence in the right eye of patient 2 might indicate an asymmetric presentation of a bilateral RP.…”

Diagnostic Yield of an Inherited Retinal Disease Gene Panel in Retinopathy of Unknown Origin

“…In a recent study by Errera et al 21 on patients with UPR, only 4.8% of patients ultimately received a genetic diagnosis. One patient carried a heterozygous pathogenic variant in RP1 , and another female patient carried a heterozygous pathogenic variant in RPGR .…”

“…6 Considering the available evidence, it seems reasonable to pursue genetic testing when faced with UPR in the presence of a suggestive family history or of strong clinical indicators of possible RP. 21 Absence of these features should lead to investigate alternative etiologies. Regarding APR and AZOOR, no data were available in the literature concerning genetic testing for IRD genes.…”

Bilateral Pigmentary Retinopathy in a Pseudophakic Patient With Chronic Pigment Dispersion Syndrome Following Pars Plana Vitrectomy for Vitreous Opacities

“…7 Unilateral pigmentary retinopathy is seen in eyes with acute zonal acute outer retinopathy, trauma, infections like syphilis, and choroidal melanoma. 8,9 While diffuse pigment deposition in the posterior pole occurs in many different diseases, the most common association is retinitis pigmentosa. Since these cases of pigmentary retinopathy result from damage to the choroid, retinal pigment epithelium, and retina, the pigment deposits are usually confined to the outer retina.…”

“…The differential diagnosis of an eye with bilateral pigmentary retinopathy includes inherited retinal diseases with or without systemic disease, infectious chorioretinitis, inflammatory chorioretinitis, chronic subretinal fluid, retinal detachment, and toxic retinopathy 7. Unilateral pigmentary retinopathy is seen in eyes with acute zonal acute outer retinopathy, trauma, infections like syphilis, and choroidal melanoma 8,9. While diffuse pigment deposition in the posterior pole occurs in many different diseases, the most common association is retinitis pigmentosa.…”

Unilateral Retinitis Pigmentosa Associated with Possible Ciliopathy and a Novel Mutation

“…In patient 2 the ffERG was affected in both eyes, demonstrating a bilateral retinal dystrophy. Similarly, Errera et al reported 42 patients with URP, where eight patients had subnormal ffERG findings in the fellow eye [ 4 ]. The chorioretinal atrophic changes in the peripapillary area along with increased autofluorescence in the right eye of patient 2 might indicate an asymmetric presentation of a bilateral RP.…”

Diagnostic Yield of an Inherited Retinal Disease Gene Panel in Retinopathy of Unknown Origin

“…In a recent study by Errera et al 21 on patients with UPR, only 4.8% of patients ultimately received a genetic diagnosis. One patient carried a heterozygous pathogenic variant in RP1 , and another female patient carried a heterozygous pathogenic variant in RPGR .…”

“…6 Considering the available evidence, it seems reasonable to pursue genetic testing when faced with UPR in the presence of a suggestive family history or of strong clinical indicators of possible RP. 21 Absence of these features should lead to investigate alternative etiologies. Regarding APR and AZOOR, no data were available in the literature concerning genetic testing for IRD genes.…”

Bilateral Pigmentary Retinopathy in a Pseudophakic Patient With Chronic Pigment Dispersion Syndrome Following Pars Plana Vitrectomy for Vitreous Opacities

“…7 Unilateral pigmentary retinopathy is seen in eyes with acute zonal acute outer retinopathy, trauma, infections like syphilis, and choroidal melanoma. 8,9 While diffuse pigment deposition in the posterior pole occurs in many different diseases, the most common association is retinitis pigmentosa. Since these cases of pigmentary retinopathy result from damage to the choroid, retinal pigment epithelium, and retina, the pigment deposits are usually confined to the outer retina.…”

“…The differential diagnosis of an eye with bilateral pigmentary retinopathy includes inherited retinal diseases with or without systemic disease, infectious chorioretinitis, inflammatory chorioretinitis, chronic subretinal fluid, retinal detachment, and toxic retinopathy 7. Unilateral pigmentary retinopathy is seen in eyes with acute zonal acute outer retinopathy, trauma, infections like syphilis, and choroidal melanoma 8,9. While diffuse pigment deposition in the posterior pole occurs in many different diseases, the most common association is retinitis pigmentosa.…”

Unilateral Retinitis Pigmentosa Associated with Possible Ciliopathy and a Novel Mutation

“…In patient 2 the ffERG was affected in both eyes, demonstrating a bilateral retinal dystrophy. Similarly, Errera et al reported 42 patients with URP, where eight patients had subnormal ffERG findings in the fellow eye [ 4 ]. The chorioretinal atrophic changes in the peripapillary area along with increased autofluorescence in the right eye of patient 2 might indicate an asymmetric presentation of a bilateral RP.…”