Unilateral retinitis pigmentosa with amblyopia in the fellow eye

Chen, Hongling; Wu, Dinghao; Huang, Shizhou; Jiang, Fei

doi:10.1007/s00417-006-0313-7

Cited by 8 publications

(9 citation statements)

References 6 publications

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“…There was difficulty in establishing an aetiology in many patients but, importantly, a family history suggesting a heritable cause was present in only two of the patients. The observation that a genetic diagnosis could be reached in only two cases is consistent with previous studies of atypical that have suggested a high incidence of acquired disease (Joseph 1951;Spadea et al 1998;Chen et al 2006). Detailed electrophysiological testing showed generalized retinal dysfunction in the eye with pigmentary changes that varied in severity.…”

Section: Discussionsupporting

confidence: 90%

“…; Chen et al. ). Detailed electrophysiological testing showed generalized retinal dysfunction in the eye with pigmentary changes that varied in severity.…”

Section: Discussionmentioning

confidence: 99%

“…; Chen et al. ; Farrell ). A familial incidence from 16% to 35.7% has been suggested (Joseph ; Farrell ), but without molecular confirmation.…”

Section: Introductionmentioning

confidence: 99%

“…However, there are several acquired retinal disorders with fundoscopic features that mimic RP, including those arising on a post-traumatic or postinflammatory basis and unilateral 'pseudo RP' has previously been reported in association with choroidal melanoma (Lommatzsch et al 1988); ocular trauma (Bastek et al 1981); forceps related birth trauma (Mann 1957); drug toxicity (chloroquine (Thaler et al 1973)); cephaloridine (Turut & Malthieu 1980); oral contraceptive (Giovannini & Consolani 1979); diffuse unilateral subacute neuroretinitis (Raymond et al 1978); and ocular toxoplasmosis (Silveira et al 1989). It is a long-standing concept that unilateral RP is a diagnosis of exclusion (Francois & Verriest 1952) and most reported cases show no evidence or suggestion of inheritance (Kolb & Galloway 1964;Cordier et al 1966;Kandori et al 1968;Bozin & Stangos 1972;Carr & Siegel 1973;Pearlman et al 1976;Thaler et al 1980;Contestabile et al 1992;Spadea et al 1998;Chen et al 2006;Farrell 2009). A familial incidence from 16% to 35.7% has been suggested (Joseph 1951;Farrell 2009), but without molecular confirmation.…”

Section: Introductionmentioning

confidence: 99%

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Unilateral pigmentary retinopathy: a retrospective case series

Errera

Robson

Wong

et al. 2018

Acta Ophthalmologica

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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.

show abstract

Section: Discussionsupporting

confidence: 90%

“…; Chen et al. ). Detailed electrophysiological testing showed generalized retinal dysfunction in the eye with pigmentary changes that varied in severity.…”

Section: Discussionmentioning

confidence: 99%

“…; Chen et al. ; Farrell ). A familial incidence from 16% to 35.7% has been suggested (Joseph ; Farrell ), but without molecular confirmation.…”

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Unilateral pigmentary retinopathy: a retrospective case series

Errera

Robson

Wong

et al. 2018

Acta Ophthalmologica

View full text Add to dashboard Cite

show abstract

“…Unilateral retinitis pigmentosa is a rare degeneration of the photoreceptors involving retinitis pigmentosa‐like changes in one eye with the other eye completely unaffected. The criteria 6 for diagnosis of unilateral retinitis pigmentosa are:…”

Section: Discussionmentioning

confidence: 99%