# Quantitative Assessment of Visual Function in Japanese Patients With Lecithin-Cholesterol Acyltransferase Gene Abnormalities: A Case-Control Study

## TL;DR

This study compares visual function in Japanese patients with LCAT gene abnormalities to healthy controls, finding subtle visual impairments despite normal visual acuity.

## Contribution

The study provides the first quantitative assessment of visual function in Japanese patients with LCAT abnormalities using contrast sensitivity and light scattering.

## Key findings

- Patients with LCAT abnormalities had significantly higher forward light scattering than controls.
- Contrast sensitivity was significantly reduced in patients with LCAT abnormalities.
- Visual acuity and corneal astigmatism were similar between groups.

## Abstract

Introduction

Fish-eye disease (FED) and familial lecithin-cholesterol acyltransferase (LCAT) deficiency (FLD) are rare. The aim of this study was to compare visual function between patients with LCAT abnormalities - namely, FED and FLD - and healthy controls.

Methods

This retrospective, comparative case-control study included four patients with FLD or FED (LCAT group) who presented with cloudy corneas at Miyata Eye Hospital between 2018 and 2024. Four age- and sex-matched individuals with normal results on ophthalmic examination were included as controls. We reviewed medical records for best-corrected visual acuity (BCVA), corneal astigmatism, forward light scattering, and contrast sensitivity. The parameters were compared between the groups.

Results

Sixteen eyes of eight women were included, including eight eyes of four patients with cloudy corneas in the LCAT group (two with FLD and six with FED) and eight eyes of four controls. The mean BCVA and corneal astigmatism revealed no significant intergroup differences. However, forward scattering was significantly higher in the LCAT group than in the control group (p = 0.007). The area under the log-contrast sensitivity function was significantly lower in the LCAT group than in the control group (p = 0.017).

Conclusions

Despite normal BCVA, patients with LCAT abnormalities (FLD and FED) showed considerably increased forward light scattering and decreased contrast sensitivity compared with the controls, indicating subtle but substantial visual functional impairment.