Helicoid Peripapillary Chorioretinal Degeneration Complicated by Choroidal Neovascularization

Triantafylla, Magdalini; Panos, Georgios D; Dardabounis, Doukas; Nanos, Panagiotis; Konstantinidis, Aristeidis

doi:10.5301/ejo.5000695

Cited by 3 publications

(5 citation statements)

References 6 publications

(9 reference statements)

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“…The condition is secondary to TEAD1 mutations and is largely seen in patients of Icelandic origin. 11 Genetic testing was negative for TEAD1 mutation in our patient.…”

Section: Discover Increased Tear Production With Cequa ™mentioning

confidence: 67%

An Uncommon Presentation of Pigmented Paravenous Retinochoroidal Atrophy

Bhakhri,

Patel

2024

CJO

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Pigmented paravenous retinochoroidal atrophy is a rare diagnosis of exclusion as it can mimic many hereditary retinal (namely retinitis pigmentosa), infectious, and inflammatory disorders. Once diagnosed, it carries a favorable prognosis due to the macula being spared with slow to no progression and lack of symptoms. However, rare cases have noted macula involvement and symptoms including nyctalopia. Clinicians should be aware of presentations of pigmented paravenous retinochoroidal atrophy, beyond the typical findings noted in the literature, as these cases could be misdiagnosed. This case presents a rare presentation of pigmented paravenous retinochoroidal atrophy. A review of common and uncommon findings, potential pathophysiology, differential diagnoses, and multimodal imaging results is also presented.

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“…The condition is secondary to TEAD1 mutations and is largely seen in patients of Icelandic origin. 11 Genetic testing was negative for TEAD1 mutation in our patient.…”

Section: Discover Increased Tear Production With Cequa ™mentioning

confidence: 67%

An Uncommon Presentation of Pigmented Paravenous Retinochoroidal Atrophy

Bhakhri,

Patel

2024

CJO

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“…On FA, at transitional zone between affected and normal retina, leakage of fluorescein may be seen. 137,138 OCT shows thin-atrophic RPE-Bruch complex in the affected areas are seen with well-preserved posterior pole. 137 CNV may rarely develop.…”

Section: Helicoid Peripapillary Chorioretinal Degeneration (Sveinsson Chorioretinal Atrophy)mentioning

confidence: 98%

“…HPCRP is an AD, slowly progressive disorder with bilateral, well-defined, atrophic retina and choroid lesions extending from the optic nerve to the peripheral retina. [137][138][139] These lesions can be present at birth and manifest throughout the life. In some eyes, central vision can be effected.…”

Section: Helicoid Peripapillary Chorioretinal Degeneration (Sveinsson Chorioretinal Atrophy)mentioning

confidence: 99%

“…Symetrical, wing-shaped atrophy starting from optic nerve and gradually extending to the peripheral retina and preserved retinal vasculature are the typical retinal findings of the patients. 137,138 Seperate, small peripheral circular atrophic lesions may also be present.…”

Section: Helicoid Peripapillary Chorioretinal Degeneration (Sveinsson Chorioretinal Atrophy)mentioning

confidence: 99%

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Imaging in inherited retinal disorders

Müftüoğlu¹,

Al-Sheikh

Sushma

et al. 2021

European Journal of Ophthalmology

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Inherited retinal diseases, which results from mutations in over 260 identified genes, affect more than 2 million people globally. The diseases mostly cause severe vision loss in young working population and have severe impact on social economic status of the population. Advances in retinal imaging techniques along with developments in gene identification and cell biology techniques have yielded to a better understanding of the genetic and biochemical mechanisms causing these diseases. Retinal imaging along with through ophthalmological examination is essential to make an accurate diagnosis, to decrease the burden of unneccessary anciliary tests and to select the potential patients that can get benefit from the gene treatment. The purpose of the review is to yield an update on inherited retinal diseases by highlighting microstructural changes in retina and to summarize the retinal changes detected by currently available multimodal imaging techniques.

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“…• Dégénérescence choriorétinienne péripapillaire hélicoïde : il s'agit d'une maladie héréditaire rare qui se caractérise par une dégénérescence choriorétinienne atrophique rayonnant du nerf optique vers la périphérie de la rétine. Cette maladie est secondaire à des mutations du gène TEAD1 et s'observe principalement chez les patients d'origine islandaise 11 . Le test génétique s'est révélé négatif pour la mutation TEAD1 chez notre patient.…”

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Étude de cas : présentation inhabituelle d’une atrophie rétinochoroïdienne

Bhakhri,

Patel

2024

CJO

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L’atrophie rétinochoroïdienne paraveineuse pigmentée (ARPP) est un diagnostic d’exclusion rare, car elle peut passer pour de nombreux troubles rétiniens héréditaires (notamment la rétinite pigmentaire), infectieux et inflammatoires. Une fois diagnostiquée, elle présente un pronostic favorable, car la macula est épargnée, la progression est lente, voire nulle, et il n’y a pas de symptômes. Cependant, de rares cas ont montré une atteinte maculaire et des symptômes tels que la nyctalopie. Les cliniciens doivent être attentifs aux présentations de l’ARPP, au-delà des résultats typiques décrits dans la littérature, car ces cas peuvent être mal diagnostiqués. Ce rapport de cas présente en détail une rare présentation de l’ARPP avec atteinte maculaire et nyctalopie. Un examen des constatations courantes et rares, de la pathophysiologie potentielle, des diagnostics différentiels et des résultats d’imagerie multimodale est également présenté.

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Helicoid Peripapillary Chorioretinal Degeneration Complicated by Choroidal Neovascularization

Abstract: Helicoid peripapillary chorioretinal degeneration is rarely complicated by CNV as the fundus lacks the trigger factors that would sustain this process. Although rare, HPCD complicated by CNV can be seen bilaterally, but responds well to few ranibizumab injections.

Cited by 3 publications

References 6 publications

An Uncommon Presentation of Pigmented Paravenous Retinochoroidal Atrophy

An Uncommon Presentation of Pigmented Paravenous Retinochoroidal Atrophy

Imaging in inherited retinal disorders

Étude de cas : présentation inhabituelle d’une atrophie rétinochoroïdienne

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