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Knowles, Jacob A., BSc; Dimopoulos, Ioannis S., MD; MacDonald, Ian M., MD, CM

Retinal Cases and Brief Reports: July 2019 - Volume 13 - Issue 3 - p 279–282
doi: 10.1097/ICB.0000000000000579
Case Report

Purpose: To report the retinal phenotype of a rare case of long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD)/trifunctional protein (TFP) deficiency diagnosed in his late 40s with ocular findings of diffuse chorioretinal atrophy and bilateral retinoschisis.

Methods: An acylcarnitine profile assay revealed LCHAD/TFP deficiency in a 45-year-old man with a history of high myopia, bilateral decreased vision, episodic rhabdomyolysis, and peripheral neuropathy. Ocular findings were evaluated with spectral domain optical coherence tomography (Spectralis OCT; Heidelberg Engineering, Heidelberg, Germany) and color fundus photography.

Results: Spectral domain optical coherence tomography revealed severe bilateral macular retinoschisis. Subretinal fibrosis was noted in the left temporal macula with an associated lamellar macular hole. Fundus photographs demonstrated diffuse, symmetric chorioretinal atrophy characteristic of end-stage retinopathy, as previously reported in younger patients. Myopic staphylomas were evident in the posterior pole of both eyes. A trial of topical dorzolamide for 3 months resulted in no change in the retinal profile.

Conclusion: We report the retinal phenotype of a patient with LCHAD/TFP deficiency diagnosed later in life. To date, this is the oldest patient reported with LCHAD/TFP–associated retinopathy. Macular retinoschisis may represent a feature of the end-stage retinopathy due to the progressive myopia. The diagnosis of LCHAD/TFP deficiency should be considered in adult patients with a history rhabdomyolysis, neuropathy, and retinopathy, as they would not have undergone routine newborn screening before the late 90s.

The authors briefly present the retinal phenotype of a case of 3-hydroxyacyl-CoA dehydrogenase/trifunctional protein deficiency diagnosed later in life.

Department of Ophthalmology and Visual Sciences, University of Alberta, Edmonton, Alberta, Canada.

Reprint requests: Ian M. MacDonald, MD, CM, Department of Ophthalmology and Visual Sciences, 7-030 Katz Building University of Alberta, Edmonton, Alberta T6G 2E1, Canada; e-mail:

None of the authors has any financial/conflicting interests to disclose.

© 2019 by Ophthalmic Communications Society, Inc.