Unilateral retinitis pigmentosa occurring in an individual with a mutation in the<i>CLRN1</i>gene

Sim, Peng Yong; Jeganathan, V Swetha E; Wright, Alan F.; Cackett, Peter

doi:10.1136/bcr-2017-222045

Cited by 4 publications

(2 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…; Sim et al. ). One recent study described 14 cases of ‘unilateral RP’, bringing the total number of cases in the literature to <100 since 1865, but without genetic confirmation of the diagnosis (Farrell ).…”

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

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: 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

“…Genetic associations with URP have recently been reported, including mutations in RP1 [ 6 ], RPGR [ 4 ], CLRN1 [ 7 ] and USH2A [ 5 ]. These have only been described in a handful of URP cases.…”

Section: Introductionmentioning

confidence: 99%

Unilateral Retinitis Pigmentosa Associated with Possible Ciliopathy and a Novel Mutation

Milibari

Magliyah²,

Semidey

et al. 2022

Clinics and Practice

View full text Add to dashboard Cite

Unilateral retinitis pigmentosa (URP) is a rare retinal dystrophy. We describe the clinical course of two patients with (URP) unilateral retinitis pigmentosa confirmed by genetic testing, indicating ciliary dysfunction. Methods: The methods used in this study included a detailed ophthalmic examination, multimodal retinal imaging, Goldmann visual fields, full-field electroretinography (ffERG) and targeted next-generation sequencing. Results: A 32-year-old female (patient 1) and 65-year-old male (patient 2) were found to have URP. ffERG showed a non-recordable response in the affected eye and a response within normal limits in the fellow eye of patient 1, while patient 2 showed non-recordable responses in the apparently unaffected eye and a profound reduction in the photopic and scotopic responses in the affected eye. Next-generation sequencing revealed novel compound heterozygous c.373 C>T (p.Arg125Trp) and c.730-22_730-19dup variants in AGBL5 in patient 1, and a novel hemizygous c.1286 C>T (p.Pro429Leu) in patient 2; both gene mutations were 0%. Segregation analysis was not possible for either of the mutations. Conclusion: This report expands the clinical and molecular genetic spectrum of URP.

show abstract