Researchers from Spain presented the case of a 4-year-old patient who was diagnosed with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, a type of long-chain fatty acid oxidation disorder (LCFAOD), at birth through newborn screening. Their report was published in Archivos de la Sociedad Española de Oftalmología.

The disease clinically started as pigmentary retinosis. However, there was no alteration in the patient’s visual acuity as observed in the fundus images and optical coherence tomography of the retina.

The researchers stated, “The ophthalmological knowledge of this disease is of vital importance because, although ocular compromise is very rarely the first finding . . . we could have a less privileged population . . . where these screening programs are not available.”

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They stressed the importance of the ophthalmologist’s role in detecting underlying systemic conditions such as LCHAD, which may have an impact on a patient’s life expectancy. “For this purpose, a correct and complete anamnesis is essential in every pediatric patient with retinitis pigmentosa,” they said.

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The team led by J. Escudero Gómez also conducted a literature review to highlight the main pathological and clinical features of LCHAD.

“At the ocular level, LCHAD deficits clinically manifested in the form of retinopathy of the pigment retinosis type,” the researchers wrote. They said that the retina is normal at disease onset but as the disease progresses, chorioretinal atrophy develops, finally reaching the fovea. Some studies also describe the appearance of staphylomas in the posterior pole, as well as myopia and cataracts. 

LCHAD deficiency is caused by a mutation in the HADHA gene, which encodes one of the enzymes in the trifunctional protein (TFP) complex that plays a role in the last 3 steps of long-chain fatty acid breakdown in the mitochondria. The mutation leads to long-chain fatty acid buildup inside cells, causing damage.


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. Arch Soc Esp Oftalmol. 2021;96(9):496-499. doi:10.1016/j.oftal.2020.07.018