Vision with impaired fat metabolism

Vision with impaired fat metabolism

a) Vision in case of insufficiency of long – chain 3-hydroxyacyl-CoA dehydrogenase . The long – chain 3-hydroxyacyl-CoA dehydrogenase enzyme is involved in mitochondrial β-oxidation of fatty acids; autosomal recessive disease long – chain 3-hydroxyacyl-CoA dehydrogenase deficiency can manifest hypoglycemia, lack of weight gain, lack of appetite, cholestatic liver disease and hypotension in infancy. 

Treatment consists in limiting alimentary long chain fatty acids, supplementation with vitamins and minerals and avoiding starvation.

Lack of long – chain 3-hydroxyacyl-CoA dehydrogenase causes chorioretinal degeneration of varying severity, accompanied by visual impairment, and progressive myopia.

Opacities of the lens can develop and progress. Adequate nutritional control can slow the progression of chorioretinopathy .

b) Sjogren-Larsson syndrome 

(A, B) Peripapillary and perimacular granular pigment changes in an 11-year-old girl with long – chain 3-hydroxyacyl-CoA dehydrogenase deficiency ;
The diagnosis was made in the neonatal period during the first days of life.
Visual acuity of 0.1 logMAR of the right and left eyes with correction of myopia and astigmatism of small severity.
The amplitude of ERG subnormal (provided Kristina Tear Fahnehjelm St Erik Eye Hospital Stockholm ). (B, D) Bilateral areolar chorioretinopathy in a 21-year-old woman with long – chain 3-hydroxyacyl-CoA dehydrogenase deficiency The diagnosis was made at the age of eight months. At the age of three years, bilateral retinopathy pigmentosa, exotropia, and myopia developed, and to achieve a young age due to chorioretinal fibrosis, visual acuity worsened to <1.0 logMAR with myopic correction.

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