Preserved para-arteriole retinal pigment epithelium (PPRPE) in retinitis pigmentosa.

Heckenlively, John R.

doi:10.1136/bjo.66.1.26

Cited by 56 publications

(30 citation statements)

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“…CRB1 mutations have been found in patients with retinitis pigmentosa (RP) type 12 [den Hollander et al, 1999;Bernal et al, 2003;Khaliq et al, 2003], a specific form of RP characterized by a preserved paraarteriolar retinal pigment epithelium (PPRPE), an early onset and progressive loss of the visual field, optic nerve head drusen, vascular sheathing, nystagmus, and hyperopia (MIM# 600105) [Heckenlively, 1982;van den Born et al, 1994]. CRB1 mutations have also been detected in patients with early onset RP without PPRPE but with other RP12 characteristics [Lotery et al, 2001b;Bernal et al, 2003], and in RP patients who had developed Coats-like exudative vasculopathy, a relatively rare complication of RP characterized by vascular abnormalities (retinal telangiectasia and choroid to retina anastomoses), yellow extravascular lipid depositions, and in severe cases retinal detachment [den Hollander et al, 2001a].…”

Section: Introductionmentioning

confidence: 99%

CRB1 mutation spectrum in inherited retinal dystrophies

Hollander¹,

et al. 2004

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Mutations in the Crumbs homologue 1 (CRB1) gene have been reported in patients with a variety of autosomal recessive retinal dystrophies, including retinitis pigmentosa (RP) with preserved paraarteriolar retinal pigment epithelium (PPRPE), RP with Coats-like exudative vasculopathy, early onset RP without PPRPE, and Leber congenital amaurosis (LCA). We extended our investigations of CRB1 in these retinal dystrophies, and identified nine novel CRB1 sequence variants. In addition, we screened patients with "classic" RP and classic Coats disease (without RP), but no pathologic sequence variants were found in the CRB1 gene. In total, 71 different sequence variants have been identified on 184 CRB1 alleles of patients with retinal dystrophies, including amino acid substitutions, frameshift, nonsense, and splice site mutations, in-frame deletions, and large insertions. Recent studies in two animal models, mouse and Drosophila, and in vivo high-resolution microscopy in patients with LCA, have shed light on the role of CRB1 in the pathogenesis of retinal dystrophies and its function in the photoreceptors. In this article, we provide an overview of the currently known CRB1 sequence variants, predict their effect, and propose a genotype-phenotype correlation model for CRB1 mutations.

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Section: Introductionmentioning

confidence: 99%

CRB1 mutation spectrum in inherited retinal dystrophies

Hollander¹,

et al. 2004

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“…Mutations in the CRB1 gene have been associated with RP12, a distinct form of RP characterized by preservation of para-arteriolar retinal pigment epithelium, progressive visual field (VF) loss starting from the first decade of life, and early macular involvement. 4 Other common features are hyperopia and optic disc drusen, previously described in a Dutch genetic isolate (GI). 5 Classic forms of early-onset RP, without preservation of para-arteriolar retinal pigment epithelium, also have been associated with mutations in the CRB1 gene.…”

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confidence: 99%

Genotypic and Phenotypic Characteristics of CRB1 -Associated Retinal Dystrophies

et al. 2017

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Purpose: To describe the phenotype, long-term clinical course, clinical variability, and genotype of patients with CRB1-associated retinal dystrophies.Design: Retrospective cohort study. Participants: Fifty-five patients with CRB1-associated retinal dystrophies from 16 families. Methods: A medical record review of 55 patients for age at onset, medical history, initial symptoms, bestcorrected visual acuity, ophthalmoscopy, fundus photography, full-field electroretinography (ffERG), Goldmann visual fields (VFs), and spectral-domain optical coherence tomography.Main Outcome Measures: Age at onset, visual acuity survival time, visual acuity decline rate, and electroretinography and imaging findings.Results: A retinitis pigmentosa (RP) phenotype was present in 50 patients, 34 of whom were from a Dutch genetic isolate (GI), and 5 patients had a Leber congenital amaurosis phenotype. The mean follow-up time was 15.4 years (range, 0e55.5 years). For the RP patients, the median age at symptom onset was 4.0 years. In the RP group, median ages for reaching low vision, severe visual impairment, and blindness were 18, 32, and 44 years, respectively, with a visual acuity decline rate of 0.03 logarithm of the minimum angle of resolution per year. The presence of a truncating mutation did not alter the annual decline rate significantly (P ¼ 0.75). Asymmetry in visual acuity was found in 31% of patients. The annual VF decline rate was 5% in patients from the genetic isolate, which was significantly faster than in non-GI patients (P < 0.05). Full-field electroretinography responses were extinguished in 50% of patients, were pathologically attenuated without a documented rod or cone predominance in 30% of patients, and showed a rodecone dysfunction pattern in 20% of RP patients. Cystoid fluid collections in the macula were found in 50% of RP patients.Conclusions: Mutations in the CRB1 gene are associated with a spectrum of progressive retinal degeneration. Visual acuity survival analyses indicate that the optimal intervention window for subretinal gene therapy is within the first 2 to 3 decades of life. Ophthalmology 2017;124:884-895 ª 2017 by the American Academy of Ophthalmology Supplemental material available at www.aaojournal.org.Mutations in the CRB1 gene are associated with a wide variety of severe retinal dystrophies with variable phenotypes, including panretinal dystrophies such as retinitis pigmentosa (RP), Leber congenital amaurosis (LCA), and coneerod dystrophy, as well as central phenotypes such as isolated macular dystrophy and foveal retinoschisis. Retinitis pigmentosa is a clinically and genetically heterogeneous disorder. Mutations in the CRB1 gene have been associated with RP12, a distinct form of RP characterized by preservation of para-arteriolar retinal pigment epithelium, progressive visual field (VF) loss starting from the first decade of life, and early macular involvement. 4 Other common features are hyperopia and optic disc drusen, previously described in a Dutch genetic isolate (GI). 5Classic forms of earl...

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“…38 Affected children have been reported. 39,40 Affected siblings and consanguinity has been noted. The gene location has been confirmed by others.…”

Section: Case Reports Pigmented Fundus Lesions Primarily Involving Cementioning

confidence: 96%

“…36 Occasionally, an RP patient with apparent preservation of the para-arteriole RPE is identified ( Figure 5. 37 Patients with this form of RP usually are hyperopic rather than myopic although the mode of transmission is that of AR inheritance.…”

Section: Case Reports Pigmented Fundus Lesions Primarily Involving Cementioning

confidence: 99%

Selected Pigmented Fundus Lesions of Children

Ellis

2005

Journal of American Association for Pediatric Ophthalmology and

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Preserved para-arteriole retinal pigment epithelium (PPRPE) in retinitis pigmentosa.

Cited by 56 publications

References 9 publications

CRB1 mutation spectrum in inherited retinal dystrophies

CRB1 mutation spectrum in inherited retinal dystrophies

Genotypic and Phenotypic Characteristics of CRB1 -Associated Retinal Dystrophies

Selected Pigmented Fundus Lesions of Children

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