Néovascularisation choroïdienne au cours d’un déficit en Long-Chain 3-Hydroxyacyl CoA Dehydrogenase (LCHAD)

Stopek, D; Lala, E.; Labarthe, François; Majzoub, S.; Castelnau, Pierre; Pisella, Pj

doi:10.1016/s0181-5512(08)74746-6

Cited by 5 publications

(6 citation statements)

References 10 publications

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“…Alternatively, this pigmented lesion may result from accumulation of inwardly migrating, diseased RPE cells from surrounding tissue; or an idiopathic gliosis. Two prior reports described the development of a similar subfoveal scar, 27,28 one with an active CNVM. 20 Although we did not detect any active CNVM, the finding of a subfoveal scar in 17% of our patients calls for close monitoring of central acuity in affected eyes, perhaps with Amsler grid testing.…”

Section: Discussionmentioning

confidence: 95%

Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders

et al. 2016

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Objective To assess long-term effects of genotype on chorioretinopathy severity in subjects with mitochondrial trifunctional protein (MTP) disorders. Design Retrospective case series. Participants Consecutive patients with MTP disorders evaluated at a single center from 1994 to 2015, including 18 subjects with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) and 3 subjects with trifunctional protein deficiency (TFPD). Methods Local records from all visits were reviewed. Every subject underwent complete ophthalmic examination and was evaluated by a metabolic physician and dietitian. Nine subjects underwent ancillary fundoscopic imaging including optical coherence tomography (OCT) and OCT angiography. Main Outcome Measures The primary outcome measure was best-corrected visual acuity (logMAR) at the final visit. Secondary outcome measures included spherical equivalent refraction, electroretinogram (ERG) b-wave amplitudes, and qualitative imaging findings. Results Subjects were followed for a median of 5.6 years (range 0.3–20.2). The median age of LCHADD subjects at initial and final visits was 2.3 and 11.9 years, while the median age for TFPD subjects at initial and final visits was 4.7 and 15.5 years. Four long-term survivors over the age of 16 years were included (three subjects with LCHADD and one subject with TFPD). LCHADD subjects demonstrated a steady decline in visual acuity from an average logMAR of 0.23 (Snellen equivalent 20/34) at baseline to 0.42 (Snellen equivalent 20/53) at the final visit, whereas TFPD patients maintained excellent acuity throughout follow up. Subjects with LCHADD, but not TFPD, showed an increasing myopia with a mean decrease in spherical equivalent refraction of 0.24 diopters per year. Multimodal imaging demonstrated progressive atrophy of the outer retina in LCHADD, often preceded by the formation of outer retinal tubulations and choriocapillaris dropout. ERG findings support the more severe clinical profile of LCHADD subjects compared with TFPD; the function of both rods and cones are diffusely attenuated in LCHADD but within normal limits for TFPD subjects. Conclusions Despite improved survival with early diagnosis, medical management, and dietary treatment, subjects with the LCHADD subtype of MTP disorder continue to develop visually disabling chorioretinopathy. Multimodal imaging is most consistent with choriocapillaris loss exceeding photoreceptor loss.

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Section: Discussionmentioning

confidence: 95%

Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders

et al. 2016

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“…Ainsi un acyl-CoA à 20 atomes de carbone va-t-il générer 10 molécules d'acétyl-CoA. La production de chaque acétyl-CoA requiert l'intervention de quatre enzymes qui agissent successivement [Stopek et al, 2008] : une acyl-CoA déshydrogénase (1) puis une protéine trifonctionnelle qui catalyse les trois étapes suivantes (2), (3), (4) [Uchida et al, 1992] (figure VII-3-2).…”

Section: La Béta-oxydation Des Ag à Longue Chaîneunclassified

“…En parallèle avec la synthèse d'acétyl-CoA, chaque tour d'oxydation produit une molécule de FADH 2 et une molécule NADH (essentiellement par le cycle de Krebs). L'électron du NADH intègre la chaîne respiratoire au niveau du complexe I. Celui du FADH 2 est transporté par l'ETF (Electron-Transfer Flavoprotein) et l'ETF-DF (Electron-Transfer Flavoprotein DeHydrogenase) jusqu'au coenzyme Q10 de la chaîne respiratoire (figure VII-3-1) [Stopek, et al, 2008], [Zschocke J., Hoffmann GF., 2005]. L'oxydation mitochondriale des acides gras est en permanence source d'énergie pour de nombreux organes en particulier le myocarde et les muscles squelettiques, mais aussi le foie, le tissu adipeux.…”

Section: La Béta-oxydation Des Ag à Longue Chaîneunclassified

“…Ils ne sont pas encore élucidés avec certitude. La rétinopathie affecte précocement l'épithélium pigmentaire puis la choriocapillaire [Tyni et al, 1998b], [Tyni et al, 2002], [Tyni et al, 2004], [Stopek, et al, 2008].…”

Section: Mécanismes Possibles De La Rétinopathie Du Lchad-dunclassified

“…D'autres facteurs semblent participer à la survenue et l'évolution de la rétinopathie du LCHAD-D comme le déficit énergétique important par manque d'ATP [Stopek, et al, 2008]. Ce facteur pourrait expliquer la dissociation entre le dysfonctionnement du système des cônes plus précoce que celui des bâtonnets, comme cela est illustré par l'exemple que nous présentons et commentons ci-dessous.…”

Section: Déficience Des Photorécepteursunclassified

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Néovascularisation choroïdienne au cours d’un déficit en Long-Chain 3-Hydroxyacyl CoA Dehydrogenase (LCHAD)

Cited by 5 publications

References 10 publications

Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders

Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders

VII-3 : DYSFONCTIONNEMENTS VISUELS ASSOCIÉS À QUELQUES MALADIES PÉDIATRIQUES MÉTABOLIQUES, SYSTÉMIQUES et NEUROLOGIQUES. Apport du bilan électrophysiologique Première partie

LCHAD Deficiency

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