Unilateral Retinitis pigmentosa: Clinical and Electrophysiological Report of Four Cases

Spadea, Leopoldo; Magni, R.; Rinaldi, Giorgio; Dragani, Tommaso A.; Bianco, Guido

doi:10.1159/000027324

Cited by 17 publications

(17 citation statements)

References 12 publications

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“…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 ; Spadea et al. ; Chen et al. ).…”

Section: Discussionsupporting

confidence: 91%

“…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%

“…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.

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Section: Discussionsupporting

confidence: 91%

Section: Discussionsupporting

confidence: 90%

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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“…Unilateral retinitis pigmentosa (URP) is a rare degeneration of the photoreceptors involving retinitis pigmentosa-like changes in one eye with the other eye completely unaffected [3]. The criteria for diagnosis of URP are:…”

Section: Introductionmentioning

confidence: 99%

Unilateral retinitis pigmentosa with amblyopia in the fellow eye

Chen

Huang

et al. 2006

Graefe's Arch Clin Exp Ophthalmol

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“…Contudo, nesses casos, o ERG já apresenta alterações em ambos os olhos desde o início da doença (6) . O tempo ideal de acompanhamento do paciente para o diagnostico de RPU ainda é controverso.…”

Section: A B Discussãounclassified

Retinose pigmentar unilateral ou pseudorretinose pigmentar?: relato de caso

Rios

Carneiro

Cunha

et al. 2013

Arq. Bras. Oftalmol.

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Relato de Caso | Case RepoRt INTRODUÇÃOA retinose pigmentar é um termo utilizado para um grupo de doenças que são caracterizadas pela hereditariedade, bilateralidade, disfunção progressiva, perda celular e eventual atrofia retiniana. A perda dos fotorreceptores leva a posterior deterioração das camadas internas da retina, com atrofia difusa de todas as camadas. Os sinais característicos são: aglomerados pigmentares com aspecto de "espículas ósseas" na periferia da retina, atenuação dos vasos e palidez "cérea" do nervo óptico. As primeiras descrições de retinose pigmentar unilateral (RPU) datam de meados do século XIX (1) . Desde então, vários outros foram relatados. Em 1948, Dreisler sugeriu que essas condições representavam uma rara forma de manifestação assimétrica da doença bilateral (2) e em 1951, Joseph concluiu que muitos destes eram secundários a outras doenças (3) . Ainda hoje persiste a discussão sobre a existência da RPU como entidade clínica isolada, sua relação com a retinose pigmentar bilateral (RPB) e, principalmente, sua associação com outras doenças adquiridas. Estas incertezas podem confundir o médico oftalmologista especialmente quando não é encontrada uma causa para as alterações apresentadas ao exame clínico. RELATO DE CASOPaciente do sexo masculino, 24 anos, procedente de Belo Horizonte foi admitido na unidade de urgência da Clínica de Olhos do Hospital Santa Casa de Belo Horizonte, com relato de diminuição da acuidade visual no olho direito (OD) com evolução de dois dias. Negou dor, trauma ocular recente ou prévio. Informou passado de varicela aos 19 anos. Sua história familiar evidenciou mãe com hipertensão arterial sistêmica. Ao exame oftalmológico apresentou acuidade visual corrigida de 0,4 (20/50) no OD e 1,0 (20/20) no olho esquerdo (OE). A biomicroscopia do segmento anterior não revelou alterações e a medida da pressão intraocular pela tonometria de aplanação (Goldmann) foi de 16 mmHg em ambos os olhos. O mapeamento de retina do OD evidenciou vítreo claro, retina aplicada, atenuação arteriolar difusa, disco óptico corado com contornos regulares e relação escavação/disco fisiológica, rarefação de epitélio pigmentar da retina (EPR) e aglomerados pigmentares similares à "espículas ósseas" 360 0 poupando a região macular. O exame do OE demonstrou vítreo claro, retina aplicada, vasos retinianos com relação artéria/veia de 2/3, disco óptico corado, com contornos regulares e relação escavação/disco fisiológica, brilho macular preservado sem qualquer alteração retiniana.O campo visual manual (CVM) realizado com o campímetro manual (Goldmann) mostrou padrão tubular no OD e exame sem alterações no OE (Figura 1A). A retinografia colorida utilizando o equipamento Spectralis (Heidelberg Engineering) evidenciou atenuação dos vasos e aglomerados pigmentares além das arcadas vasculares no OD, não observadas no OE (Figura 1B). Angiografia fluorescente realizada com o mesmo aparelho demonstrou áreas de hipofluorescência por efeito máscara devido aos acúmulos pigmentares, hiperfluorescência por efeito j...

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Unilateral Retinitis pigmentosa: Clinical and Electrophysiological Report of Four Cases

Cited by 17 publications

References 12 publications

Unilateral pigmentary retinopathy: a retrospective case series

Unilateral pigmentary retinopathy: a retrospective case series

Unilateral retinitis pigmentosa with amblyopia in the fellow eye

Retinose pigmentar unilateral ou pseudorretinose pigmentar?: relato de caso

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