LCHADD-associated chorioretinopathy (case study)

Pomytkina N.V.; Sorokin E.L.; Kashura O.I.

doi:https://doi.org/10.17116/oftalma202514103148

Pomytkina N.V.

Khabarovsk branch of the S.N. Fedorov National Medical Research Centre “MNTK “Eye Microsurgery”;
Far-Eastern State Medical University

ORCID: 0000-0003-3757-8351

Sorokin E.L.

Khabarovsk branch of S.N. Fedorov National Medical Research Center “MINK “Eye Microsurgery”;
Far-Eastern State Medical University

ORCID: 0000-0002-2028-1140

Kashura O.I.

Khabarovsk branch of the S.N. Fedorov National Medical Research Center “MNTK “Eye Microsurgery”

ORCID: 0000-0002-1604-1742

LCHADD-associated chorioretinopathy (case study)

Authors:

Pomytkina N.V., Sorokin E.L., Kashura O.I.

More about the authors

Journal: Russian Annals of Ophthalmology. 2025;141(3): 48‑53

DOI: 10.17116/oftalma202514103148

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To cite this article:

Pomytkina NV, Sorokin EL, Kashura OI. LCHADD-associated chorioretinopathy (case study). Russian Annals of Ophthalmology. 2025;141(3):48‑53. (In Russ.)
https://doi.org/10.17116/oftalma202514103148

Подписка 2026 Вестник офтальмологии (Russian Annals of Ophthalmology)

Использование инфографики авторами научных работ

Abstract:

This article presents a clinical case of pigmentary chorioretinopathy associated with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD-associated retinopathy) in a 5-year-old female patient. The condition manifested clinically as localized retinal pigment epithelium (RPE) hyperplasia in the foveal region, areas of localized chorioretinal atrophy with RPE hyperplasia in the posterior pole, as well as retroequatorial and equatorial regions. In the left eye, a localized area of subretinal fibrosis was observed in the fovea as a consequence of prior focal chorioretinitis, resulting in reduced visual acuity to 0.03 sc and decreased cone-mediated retinal electrical activity as evidenced by electroretinography. In the right eye, uncorrected visual acuity remained high at 0.8 sc; visual evoked potentials showed no abnormalities, and both full-field and multifocal electroretinography yielded values within normal limits. Optical coherence tomography (OCT) data are presented, illustrating specific structural retinal changes associated with LCHADD-associated retinopathy.

Keywords:

long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)

LCHADD-associated pigmentary chorioretinopathy

Authors:

Pomytkina N.V.

Khabarovsk branch of the S.N. Fedorov National Medical Research Centre “MNTK “Eye Microsurgery”;
Far-Eastern State Medical University

ORCID: 0000-0003-3757-8351

Sorokin E.L.

Khabarovsk branch of S.N. Fedorov National Medical Research Center “MINK “Eye Microsurgery”;
Far-Eastern State Medical University

ORCID: 0000-0002-2028-1140

Kashura O.I.

Khabarovsk branch of the S.N. Fedorov National Medical Research Center “MNTK “Eye Microsurgery”

ORCID: 0000-0002-1604-1742

Received:

12.11.2024

Accepted:

12.12.2024

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References:

García García LC, Zamorano Martín F, Rocha de Lossada C, García Lorente M, Luque Aranda G, Escudero Gómez J. Retinitis pigmentosa as a clinical presentation of LCHAD deficiency: A clinical case and review of the literature. Archivos de la Sociedad Española de Oftalmología. 2021;96(9):496-499. https://doi.org/10.1016/j.oftale.2020.07.013
Nedoszytko B, Siemińska A, Strapagiel D, Dąbrowski S, Słomka M, Sobalska-Kwapis M, Marciniak B, Wierzba J, Skokowski J, Fijałkowski M, Nowicki R, Kalinowski L. High prevalence of carriers of variant c.1528G>C of HADHA gene causing long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) in the population of adult Kashubians from North Poland. PLOS One. 2017;12(11):e0187365. https://doi.org/10.1371/journal.pone.0187365
Pechatnikova NL, Polyakova NA, Kakaulinina VS, Potekhin OE, Semenova LP, Baydakova GV, Bullih AV, Vitkovskaya IP, Petryaykina EE, Koltunov IE. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the importance of early diagnosis. Pediatria. Journal n.a. GN Speransky. 2017;96:(4):121-127. (In Russ.). https://doi.org/10.24110/0031-403X-2017-96-4-121-127
Wanders RJ, Duran M, Ijlst L, de Jager JP, van Gennip AH, Jakobs C, Dorland L, van Sprang FJ. Sudden infant death and long-chain 3-hydroxyacyl-CoA dehydrogenase. Lancet. 1989;2(8653):52-53. https://doi.org/10.1016/s0140-6736(89)90300-0
Rigaudière F, Delouvrier E, Le Gargasson JF, Milani P, Ogier de Baulny H, Schiff M. Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and progressive retinopathy: one case report followed by ERGs, VEPs, EOG over a 17-year period. Documenta Ophthalmologica. 2021;142(3): 371-380. https://doi.org/10.1007/s10633-020-09802-y
Tyni T, Immonen T, Lindahl P, Majander A, Kivelä T. Refined staging for chorioretinopathy in long-chain 3-hydroxyacyl coenzyme a dehydrogenase deficiency. Ophthalmic Research. 2012;48(2):75-81. https://doi.org/10.1159/000334874.
Wongchaisuwat N, Gillingham MB, Yang P, Everett L, Gregor A, Harding CO, Sahel JA, Nischal KK, Scanga HL, Black D, Vockley J, Arnold G, Pennesi ME. A proposal for an updated staging system for LCHADD retinopathy. Ophthalmic Genetics. 2024;45(2):140-146. https://doi.org/10.1080/13816810.2024.2303682
Khramova EB, Khorosheva EYu, Perfilova OV. Long-chain 3-hydroxyacyl-coa dehydrogenase deficiency: a case report. Problems of Endocrinology. 2018;64(3):160-162. (In Russ.). https://doi.org/10.14341/probl8636
Al-Thihli K, Sinclair G, Sirrs S, Mezei M, Nelson J, Vallance H. Performance of serum and dried blood spot acylcarnitine profiles for detection of fatty acid β-oxidation disorders in adult patients with rhabdomyolysis. Journal of Inherited Metabolic Disease. 2014;37(2):207-213. https://doi.org/10.1007/s10545-012-9578-7
Oliveira SF, Pinho L, Rocha H, Nogueira C, Vilarinho L, Dinis MJ, Silva C. Rhabdomyolysis as a presenting manifestation of very long-chain acyl-coenzyme a dehydrogenase deficiency. Clinics and Practice. 2013;3(2):e22. https://doi.org/10.4081/cp.2013.e22
Berardo A, DiMauro S, Hirano M. A diagnostic algorithm for metabolic myopathies. Current Neurology and Neuroscience Reports. 2010;10(2):118-126. https://doi.org/10.1007/s11910-010-0096-4
Diekman EF, van Weeghel M, Wanders RJ, Visser G, Houten SM. Food withdrawal lowers energy expenditure and induces inactivity in long-chain fatty acid oxidation-deficient mouse models. The FASEB Journal. 2014; 28(7):2891-2900. https://doi.org/10.1096/fj.14-250241
Tenopoulou M, Chen J, Bastin J, Bennett MJ, Ischiropoulos H, Doulias PT. Strategies for correcting very long chain acyl-CoA dehydrogenase deficiency. Journal of Biological Chemistry. 2015;290(16):10486-10494. https://doi.org/10.1074/jbc.M114.635102
Sdobnikova SV, Troitskaya NA, Surnina ZV, Pateyuk LS. General and ophthalmic manifestations of herpes virus infections. Ophthalmology. 2016;13(4): 228-234. (In Russ.). https://doi.org/10.18008/1816-5095-2016-4-228-234
Liesegang TJ. Herpes zoster ophthalmicus natural history, risk factors, clinical presentation, and morbidity. Ophthalmology. 2008;115(2):S3-12. https://doi.org/10.1016/j.ophtha.2007.10.009
Wickremasinghe SS, Stawell R, Lim L, Pakrou N, Zamir E. Non-necrotizing herpetic vasculitis. Ophthalmology. 2009;116(2):361. https://doi.org/10.1016/j.ophtha.2008.09.043
Dulz S, Atiskova Y, Engel P, Wildner J, Tsiakas K, Santer R. Retained visual function in a subset of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). Ophthalmic Genetics. 2021;42(1):23-27. https://doi.org/10.1080/13816810.2020.1836658
Knowles JA, Dimopoulos IS, MacDonald IM. Retinal phenotype in a case of LCHAD/TFP deficiency with late-stage diagnosis. Retinal Cases and Brief Reports. 2019;13(3):279-282. https://doi.org/10.1097/ICB.0000000000000579