Macular involvement in a pigmented paravenous retinochoroidal atrophy

Aim: To describe the multimodal imaging findings of pigmented paravenous retinochoroidal atrophy. Methods: A 23-year-old female presented to us for a routine ocular examination. She had a best-corrected visual acuity of 6/6 in both eyes. Anterior segment examination was unremarkable. Fundus examination showed pigmentary changes along the retinal vasculature extending from mid periphery to post-equatorial retina suggesting a diagnosis of pigmented paravenous retinochoroidal atrophy. Swept-source optical coherence tomography of the macula showed choriocapillaris thinning at the mid periphery whereas coherence tomography angiography at the mid periphery showed a relatively normal choriocapillaris vasculature in the early stage of the disease. Conclusion: A relatively normal choriocapillaris structure was seen on ocular coherence tomography angiography which could have been due to a milder form of the disease in a young patient.

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Concurrent retinitis pigmentosa and pigmented paravenous retinochoroidal atrophy phenotypes in the same patient

Indian Journal of Ophthalmology ◽

10.4103/0301-4738.195009 ◽

2016 ◽

Vol 64 (10) ◽

pp. 775 ◽

Cited By ~ 7

Author(s):

Dhanashree Ratra ◽

DhileeshP Chandrasekharan ◽

P Aruldas ◽

Vineet Ratra

Keyword(s):

Retinitis Pigmentosa ◽

Pigmented Paravenous Retinochoroidal Atrophy

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Pigmented paravenous retinochoroidal atrophy associated with unilateral cystoid macular oedema

BMJ Case Reports ◽

10.1136/bcr-2019-230633 ◽

2019 ◽

Vol 12 (8) ◽

pp. e230633 ◽

Cited By ~ 1

Author(s):

Ricardo Figueiredo ◽

Tiago Morais Sarmento ◽

João Garrido ◽

António Ramalho

Keyword(s):

Macular Oedema ◽

Intravitreal Bevacizumab ◽

Cystoid Macular Oedema ◽

Visual Response ◽

Blurred Vision ◽

Visual Field Test ◽

Pigmented Paravenous Retinochoroidal Atrophy ◽

Funduscopic Examination ◽

Electrophysiological Examination ◽

Topical Dorzolamide

A 65-year-old man was referred to our department with complaints of blurred vision in the left eye. Funduscopic examination revealed areas of retinochoroidal atrophy along the retinal veins bilaterally and bone spicule pigmentation along the nasal and superior temporal venous branches, as well as macular oedema in the left eye. Fluorescein angiography, visual field test, optical coherence tomography and electrophysiological examination were performed, and results were compatible with the diagnosis of pigmented paravenous retinochoroidal atrophy (PPRCA). Treatment with topical dorzolamide and intravitreal bevacizumab in the left eye resulted in poor anatomical and visual response. There is scarce documentation of macular involvement with non-inflammatory unilateral cystoid macular oedema in PPRCA in the literature. Further investigation is required to elucidate the pathogenesis of PPRCA and to properly manage these patients.

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A mutation in CRX causing pigmented paravenous retinochoroidal atrophy

European Journal of Ophthalmology ◽

10.1177/1120672120957599 ◽

2020 ◽

pp. 112067212095759

Author(s):

Jin Kyun Oh ◽

Yan Nuzbrokh ◽

Winston Lee ◽

Jose Ronaldo Lima de Carvalho ◽

Nan Kai Wong ◽

...

Keyword(s):

Vision Loss ◽

Retinal Dystrophy ◽

Cone Dystrophy ◽

Full Field ◽

Inherited Retinal Dystrophy ◽

History Of ◽

Pigmented Paravenous Retinochoroidal Atrophy ◽

Retinal Thinning ◽

Bull's Eye ◽

Sd Oct

Introduction: Mutations in the cone-rod homeobox ( CRX) gene, a known cause of inherited retinal dystrophy, are characterized by extensive phenotypic heterogeneity. We describe a novel presentation of rod-cone dystrophy (RCD) phenocopying pigmented paravenous retinochoroidal atrophy associated with a mutation in CRX. Case description: A 53-year-old man and his 48-year-old brother presented with a history of progressive vision loss and nyctalopia. Fundus examination revealed a bull’s eye lesion with chorioretinal atrophy and intraretinal pigment migration, while spectral-domain optical coherence tomography (SD-OCT) demonstrated retinal thinning with outer retinal atrophy. On short-wavelength autofluorescence (SW-AF) imaging, an atypical paravenous pattern of atrophy with a surrounding hyperautofluorescent border was observed. Full-field electroretinogram (ffERG) revealed a rod-cone pattern of dysfunction. A heterozygous pathogenic variant, c.119G>A:p.(Arg40Gln), in the CRX gene was identified in both brothers and segregated in their family. Conclusion: This case report broadens the currently known phenotypic presentations of CRX-associated retinopathy and suggests that mutations in CRX may be associated with pigmented paravenous retinochoroidal atrophy.

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