Optical coherence tomography angiography of choroidal neovascularization in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)

Nida Wongchaisuwat; Jie Wang; Paul Yang; Lesley Everett; Ashley Gregor; Jose Alain Sahel; Ken K Nischal; Mark E Pennesi; Melanie B Gillingham; Yali Jia

doi:10.1016/j.ajoc.2023.101958

Optical coherence tomography angiography of choroidal neovascularization in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)

Am J Ophthalmol Case Rep. 2023 Nov 20:32:101958. doi: 10.1016/j.ajoc.2023.101958. eCollection 2023 Dec.

Authors

Nida Wongchaisuwat^{1

2}, Jie Wang¹, Paul Yang¹, Lesley Everett^{1

3}, Ashley Gregor³, Jose Alain Sahel⁴, Ken K Nischal^{4

5}, Mark E Pennesi^{1

3}, Melanie B Gillingham³, Yali Jia¹

Affiliations

¹ Casey Eye Institute, Department of Ophthalmology, Oregon Health & Science University, Portland, OR, USA.
² Department of Ophthalmology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
³ Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.
⁴ Vision Institute, University of Pittsburgh Medical Center and School of Medicine, Pennsylvania, USA.
⁵ UPMC Children's Hospital, Pennsylvania, USA.

Abstract

Purpose: To report the clinical utility of optical coherence tomography angiography (OCTA) for demonstrating choroidal neovascularization (CNV) associated with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) retinopathy.

Methods: Thirty-three participants with LCHADD (age 7-36 years; median 17) were imaged with OCTA and the Center for Ophthalmic Optics & Lasers Angiography Reading Toolkit (COOL-ART) software was implemented to process OCTA scans.

Results: Seven participants (21 %; age 17-36 years; median 25) with LCHADD retinopathy demonstrated evidence of CNV by retinal examination or presence of CNV within outer retinal tissue on OCTA scans covering 3 × 3 and/or 6 × 6-mm. These sub-clinical CNVs are adjacent to hyperpigmented areas in the posterior pole. CNV presented at stage 2 or later of LCHADD retinopathy prior to the disappearance of RPE pigment in the macula.

Conclusion: OCTA can be applied as a non-invasive method to evaluate the retinal and choroidal microvasculature. OCTA can reveal CNV in LCHADD even when the clinical exam is inconclusive. These data suggest that the incidence of CNV is greater than expected and can occur even in the early stages of LCHADD retinopathy.

Keywords: CNV; Choroidal neovascularization; LCHADD retinopathy; Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency; OCT angiography.

Abstract

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