Significance: Given that there are few reported cases of lecithin:cholesterol acyltransferase (LCAT) deficiency, recognition of the condition with proper management is notable. Long-term follow-up and contact lens fitting after penetrating keratoplasty provide best possible outcomes.
Purpose: The purpose of this study was to report a case of LCAT deficiency successfully treated with penetrating keratoplasty and longer-term follow-up with contact lens fitting.
Case Report: A 43-year-old white woman of Italian descent presented with corneal clouding and trouble with night vision. The patient had a history of LCAT deficiency, irritable bowel syndrome, gastroesophageal reflux disease, osteoporosis, and hemolytic anemia. Slit-lamp examination demonstrated corneal haze throughout the corneal layers. The corneas had normal pachymetry. Given the opacity of each cornea (right greater than left) and decreased night vision, penetrating keratoplasty was performed on the right eye. At post-operative month 16, the corneal graft remained clear. The patient was able to achieve a best-corrected visual acuity of 20/30+ with a scleral lens.
Conclusions: Penetrating keratoplasty may be necessary to provide better quality of vision in LCAT deficiency patients, specifically to enhance one's contrast sensitivity, despite relatively good Snellen visual acuity.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1097/OPX.0000000000001329 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
A Rare Case of Autoimmune-Mediated Lecithin:Cholesterol Acyltransferase Insufficiency Manifesting as the Acute Onset of Extremely Hypo-High-Density Lipoprotein-Cholesterolemia and Spontaneous Improvement: A Case Report with a Review of the Literature.
J Atheroscler Thromb
December 2024
Division of Endocrinology, Diabetes and Metabolism, Hematology and Rheumatology, Second Department of Internal Medicine, Graduate School of Medicine, University of the Ryukyus.
A 59-year-old Japanese woman was referred for an extremely low level of circulating high-density lipoprotein cholesterol (HDL-C). The serum HDL-C level had long been within the normal range but suddenly decreased asymptomatically to 7 mg/dL. She had no typical symptoms associated with familial lecithin, cholesterol acyltransferase deficiency (FLD), including proteinuria, anemia, and corneal opacity.
View Article and Find Full Text PDFNovel pathogenic variant in the LCAT gene in a compound heterozygous patient with fish-eye disease and a mild phenotype.
J Clin Lipidol
October 2024
Department of Cardiovascular Medicine and Hypertension, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan.
Background And Objective: Low HDL-cholesterol and corneal opacity are associated with fish-eye disease (FED), familial LCAT deficiency (FLD), ApoAI deficiency, and Tangier disease. The differential diagnosis is made by clinical and biochemical tests. Measuring the LCAT activity is the ideal way to distinguish conditions caused by LCAT gene variants (FED and FLD) from the other two diseases.
View Article and Find Full Text PDFGliflozins, sucrose and flavonoids are allosteric activators of lecithin-cholesterol acyltransferase.
Sci Rep
October 2024
Division of Pharmaceutical Biosciences, Faculty of Pharmacy, University of Helsinki, Helsinki, Finland.
Lecithin-cholesterol acyltransferase (LCAT) serves as a pivotal enzyme in preserving cholesterol homeostasis via reverse cholesterol transport, a process closely associated with the onset of atherosclerosis. Impaired LCAT function can lead to severe LCAT deficiency disorders for which no pharmacological treatment exists. LCAT-based therapies, such as small molecule positive allosteric modulators (PAMs), against LCAT deficiencies and atherosclerosis hold promise, although their efficacy against atherosclerosis remains challenging.
View Article and Find Full Text PDFA Novel Symptomatic Lecithin-Cholesterol Acyltransferase Gene Mutation With Corneal Amyloidosis.
Cornea
November 2024
Department of Ophthalmology, Saarland University Medical Center, Homburg/Saar, Germany.
Purpose: To present ocular clinical, histological, systemic, and genetic findings of a patient with familial lecithin-cholesterol acyltransferase (LCAT) deficiency caused by a novel genetic variant of the LCAT gene associated with secondary corneal amyloidosis.
Methods: Case report.
Results: A 74-year-old woman presented with decreased visual acuity (VA), sensitivity to light, and progressive whitening of both corneas for approximately 20 years.
Rescue of Familial Lecithin:Cholesterol Acyltranferase Deficiency Mutations with an Allosteric Activator.
Mol Pharmacol
September 2024
Department of Molecular Pharmacology, University of Michigan, Ann Arbor, Michigan (K.A.M., G.E.T., L.C.); Division of Pharmaceutical Biosciences, Faculty of Pharmacy, University of Helsinki, Helsinki, Finland (A.N., L.G., A.K.); and Departments of Biological Sciences and of Medicinal Chemistry and Molecular Pharmacology, Purdue University, West Lafayette, Indiana (J.J.G.T.)
Lecithin:cholesterol acyltransferase (LCAT) deficiencies represent severe disorders characterized by aberrant cholesterol esterification in plasma, leading to life-threatening conditions. This study investigates the efficacy of Compound 2, a piperidinyl pyrazolopyridine allosteric activator that binds the membrane-binding domain of LCAT, in rescuing the activity of LCAT variants associated with disease. The variants K218N, N228K, and G230R, all located in the cap and lid domains of LCAT, demonstrated notable activity restoration in response to Compound 2.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!