Unilateral Retinitis Pigmentosa

Joseph, Ruby

doi:10.1136/bjo.35.2.98

Cited by 10 publications

(11 citation statements)

References 5 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…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 ; Spadea et al. ; Chen et al.…”

Section: Discussionsupporting

confidence: 91%

See 1 more Smart Citation

Unilateral pigmentary retinopathy: a retrospective case series

Errera

Robson

Wong

et al. 2018

Acta Ophthalmologica

View full text Add to dashboard Cite

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: 91%

“…; Farrell ). A familial incidence from 16% to 35.7% has been suggested (Joseph ; Farrell ), but without molecular confirmation. Thus, the term ‘unilateral pigmentary retinopathy (UPR)’ is usually more accurate than unilateral RP.…”

Section: Introductionmentioning

confidence: 99%

Unilateral pigmentary retinopathy: a retrospective case series

Errera

Robson

Wong

et al. 2018

Acta Ophthalmologica

View full text Add to dashboard Cite

show abstract

“…Many of the single case reports emphasized the lack of familial cases and because of this it was thought that unilateral retinitis pigmentosa was unrelated to bilateral retinitis pigmentosa. Joseph1 reported a new case and her review of the world literature identified an additional 45 cases. She eliminated 20 of the cases because there was a possibility that an alternate diagnosis could explain the findings.…”

Section: Discussionmentioning

confidence: 99%

“…Joseph1 reported one case and reviewed the world literature where she found 45 cases. Kolb and Galloway2 reported three cases and found 27 cases reported between 1865 and 1962.…”

Section: Introductionmentioning

confidence: 99%

Unilateral retinitis pigmentosa and cone-rod dystrophy

Farrell¹

2009

OPTH

View full text Add to dashboard Cite

Purpose:The purpose of this paper is to report 14 new cases of unilateral retinitis pigmentosa and three new cases of cone-rod dystrophy and to compare the similarities and dissimilarities to those found in the bilateral forms of these disorders.Methods:A total of 272 cases of retinitis pigmentosa and 167 cases of cone-rod dystrophy were studied by corneal full field electroretinograms and electrooculograms. The student t-test was used to compare categories.Results:The percentage of familial and nonfamilial cases was the same for the bilateral and unilateral forms of the disease. In our series, unilateral retinitis pigmentosa makes up approximately 5% of the total population of retinitis pigmentosa, while unilateral cone-rod dystrophy makes up only about 2% of the total. In the familial forms of unilateral retinitis pigmentosa the most common inheritance pattern was autosomal dominant and all affected relatives had bilateral disease.Conclusion:Unilateral retinitis pigmentosa and cone-rod dystrophy appear to be directly related to the more common bilateral forms of these disorders. The genetic mechanisms which account for asymmetric disorders are not currently understood. It may be a different unidentified mutation at a single loci or it is possible that nonlinked mutations in multiple loci account for this unusual disorder.

show abstract

“…La retinosis pigmentaria unilateral ha sido observada en torno a un centenar de casos desde 1865 [1][2][3][4] . Se propusieron 4 criterios para establecer un diagnóstico correcto: 1) cambios funcionales y oftalmoscópicos de apariencia típica de retinosis pigmentaria, que debían estar presentes en el ojo -niana en el ojo contralateral con un electrorretinograma ojo afectado; 4) el periodo de observación debe ser lo bastante largo como para descartar una aparición tardía del proceso en el ojo contralateral (al menos 5 años).…”

Section: Introductionunclassified

Retinosis pigmentaria unilateral asociada a foseta papilar. Estudio diagnóstico y terapéutico

Echevarría-Lucas

Nievas-Gómez

Peralta-Reyes

et al. 2014

Revista Mexicana de Oftalmología

View full text Add to dashboard Cite

Resumen La retinosis pigmentaria unilateral es una patología relativamente infrecuente, no Por tanto, la asociación con foseta papilar es todavía más infrecuente, no quedando descartado un mecanismo intrínseco común. Presentamos el caso de una paciente de 66 años de edad, seguida desde el año 2000 en nuestro Servicio, con una coincidencia de foseta papilar y retinosis pigmentaria unilateral en el mismo ojo. Como consecuencia de la foseta papilar desarrolló un proceso de desprendimiento seroso macular que no se reabsorbió espontáneamente y que acabó produciendo un agujero lamelar macular. Este tipo de complicaciones actualmente son en algunos casos tratadas con vitrectomía; sólo que la coincidencia en el mismo ojo de retinosis pigmentaria y foseta papilar hizo que se modifoseta papilar, consiguiendo una importante ganancia visual y evitando las variaciones visuales que a lo largo del día experimentaba la paciente, por haberse acumulado líquido en la mácula a lo largo de la noche, frenando el proceso de deterioro macular. Unilateral retinitis pigmentosa with optic disc pit. Diagnosis and therapyAbstract found more than one hundred cases since 1865. Therefore, this pathology in association with optic disc pit is increasingly rare; in this association it is possible to understand a common intrinsic mechanism.

show abstract

Unilateral Retinitis Pigmentosa

Cited by 10 publications

References 5 publications

Unilateral pigmentary retinopathy: a retrospective case series

Unilateral pigmentary retinopathy: a retrospective case series

Unilateral retinitis pigmentosa and cone-rod dystrophy

Retinosis pigmentaria unilateral asociada a foseta papilar. Estudio diagnóstico y terapéutico

Contact Info

Product

Resources

About