Corresponding author: Takashi Ono, firstname.lastname@example.org
Received: March 21, 2019
Accepted: July 18, 2019
Advance Publication: September 10, 2019
Key words: Fish-eye disease, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, corneal opacity
A 46-year-old woman presented to the hospital with photophobia. She was afebrile and had no systemic complaints. Ophthalmologic slit-lamp examination showed bilateral diffuse corneal opacity that was denser in the peripheral areas (Figure 1A). Although the corneal opacity progressed after 15 years of observation (Figure 1B), her best-corrected visual acuity remained 1.5 bilaterally. Laboratory findings showed that her serum high-density lipoprotein cholesterol (HDL-C) was 2 mg/dL, and her low-density lipoprotein cholesterol was 105 mg/dL. Her complete blood count and renal function were normal. Both her serum lecithin cholesterol acyltransferase (LCAT) activity (less than 70 nmol/mL/h) and apolipoprotein-A1 level (14 mg/dL) were low. Further examination showed that she had the same mutations in LCAT gene homozygously (c. 440 C>T, p.T147I) as reported (1). She was diagnosed with fish-eye disease. Patients with fish-eye disease show markedly low HDL-C with corneal opacities, and they typically tend to develop cardiovascular disease later in life (2).
Written informed consent was obtained from the subject prior to the collection of any data.
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Schaefer EJ, Anthanont P, Diffenderfer MR, et al. Diagnosis and treatment of high density lipoprotein deficiency. Prog Cardiovasc Dis. 2016;59(2):97-106.