Unilateral pigmented paravenous retinochoroidal atrophy with acute angle-closure glaucoma: a case report

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Abstract

Background

Pigmented paravenous retinochoroidal atrophy (PPRCA) is an uncommon fundus disease characterized by perivenous aggregations of pigment clumps and retinochoroidal atrophy distributed along the retinal veins. We report a Chinese female case of unilateral PPRCA with acute angle-closure glaucoma (AACG).

Case presentation

A 50-year-old Chinese female presented with vision loss and elevated intraocular pressure (IOP) in the right eye and then underwent trabeculectomy. She referred to our clinic for further evaluation and treatment. The funduscopic examination revealed grayish retinochoroidal atrophy and osteocyte-like pigment clumping lesions along the retinal veins and peripapillary preretinal hemorrhage in the right eye. The patient also presented with AACG in the same eye on the basis of past medical history of acute attack, shallow anterior chamber depth (ACD), narrow angle showed by ultrasound biomicroscopy (UBM) and glaucomatous neuropathy identified by optical coherence tomography (OCT). Other examinations like fluorescein fundus angiography (FFA), electroretinogram (ERG) and electrooculography (EOG) all confirmed the aforementioned diagnose.

Conclusion

PPRCA is a rare disease, uncommon in females and symmetrical in both eyes. We present a rare case of unilateral PPRCA accompanied with AACG.

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Most cited references 15

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Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene.

David Simpson, Giuliana Silvestri, Jamie G. McKay … (2004)

Pigmented paravenous chorioretinal atrophy (PPCRA) is an unusual retinal degeneration characterized by accumulation of pigmentation along retinal veins. The purpose of this study was to describe the phenotype of a family with PPCRA, determine the mode of inheritance, and identify the causal mutation. Ophthalmic examination was performed on seven family members and serially detailed in the proband over a 3-year period. Blood samples were collected and DNA extracted. All 12 coding exons and the 5' promoter region of the crumbs homologue 1 (CRB1) gene were PCR amplified and DNA sequenced. In silico homology modeling was performed on the mutated protein domain. Subtle symmetrical chorioretinal atrophy in the inferior quadrant was the earliest clinical sign detectable within this family. Paravenous pigmentation occurred initially in the far periphery, progressing centrally, with atrophy later becoming more widespread, involving the nasal, then the temporal, and finally the upper quadrant. A novel, dominant Val162Met mutation within the fourth EGF-like domain of CRB1 cosegregates with the PPCRA phenotype. It is thought to affect domain structure, because codon 162 is involved in hydrogen bonding between the antiparallel beta-strands of the major beta-sheet, causing sufficient perturbation of the backbone that the domain-stabilizing hydrogen bond does not form or is weakened. PPCRA was dominantly inherited in this family, but exhibited variable expressivity. Males are more likely to exhibit a severe phenotype, whereas females may remain virtually asymptomatic even in later years. The PPCRA phenotype is associated with a Val162Met mutation in CRB1 which is likely to affect the structure of the CRB1 protein.

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Pigmented paravenous retinochoroidal atrophy (Review)

HOU-BIN HUANG, Yi-Xin Zhang (2014)

Pigmented paravenous retinochoroidal atrophy (PPRCA) is an uncommon disease characterized by perivenous aggregations of pigment clumps associated with peripapillary and radial zones of retinochoroidal atrophy that are distributed along the retinal veins. Patients are usually asymptomatic and the disease process is non-progressive or slow and subtly progressive. It is commonly bilateral and symmetric. The cause of the condition may be unknown or idiopathic, although a dysgenetic, degenerative, hereditary etiology or even an inflammatory cause has been hypothesized. A non-inflammatory cause is referred to as primary, while inflammation-associated PPRCA is referred to as secondary or pseudo PPRCA. The present study reviewed and summarized the features of PPRCA.

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RETINO-CHOROIDITIS RADIATA.

Matthew Brown (1937)

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Author and article information

Contributors

Huijuan Wu:

ORCID: http://orcid.org/0000-0002-3349-986X

dr_wuhuijuan@126.com

Journal

Journal ID (nlm-ta): BMC Ophthalmol

Journal ID (iso-abbrev): BMC Ophthalmol

Title: BMC Ophthalmology

Publisher: BioMed Central (London )

ISSN (Electronic): 1471-2415

Publication date (Electronic): 8 May 2023

Publication date PMC-release: 8 May 2023

Publication date Collection: 2023

Volume: 23

Electronic Location Identifier: 202

Affiliations

[1 ]GRID grid.411634.5, ISNI 0000 0004 0632 4559, Department of Ophthalmology, , Peking University People’s Hospital, ; Beijing, China

[2 ]GRID grid.11135.37, ISNI 0000 0001 2256 9319, Eye Diseases and Optometry Institute, Beijing Key Laboratory of Diagnosis and Therapy of Retinal and Choroid Diseases, College of Optometry, , Peking University Health Science Center, ; Beijing, China

Author information

Huijuan Wu http://orcid.org/0000-0002-3349-986X

Article

Publisher ID: 2922

DOI: 10.1186/s12886-023-02922-4

PMC ID: 10169484

PubMed ID: 37158871

SO-VID: db19510d-be49-450f-9e2b-4bb463f821ae

License:

Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

History

Date received : 21 December 2022

Date accepted : 14 April 2023

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ScienceOpen disciplines: Ophthalmology & Optometry

Keywords: pigmented paravenous retinochoroidal atrophy,acute angle-closure glaucoma,unilateral

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ScienceOpen disciplines: Ophthalmology & Optometry

Keywords: pigmented paravenous retinochoroidal atrophy, acute angle-closure glaucoma, unilateral

Unilateral pigmented paravenous retinochoroidal atrophy with acute angle-closure glaucoma: a case report

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Abstract

Background

Case presentation

Conclusion

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Karger: Ophthalmology

Most cited references 15

Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene.

Pigmented paravenous retinochoroidal atrophy (Review)

RETINO-CHOROIDITIS RADIATA.

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