Pedigree and clinical characteristics in a Chinese family with lattice corneal dystrophy

Authors: Peng Shiming,  Zhao Jun,  Zhu Tianhui,  Huang Xiaosheng,  Chen Wenjie,  Mei Shaoyi,  Wang Yan

DOI: 10.3760/cma.j.issn.2095-0160.2017.08.007
Published 2017-08-10
Cite as Chin J Exp Ophthalmol, 2017,35(8): 704-708.

Abstract

Background

Lattice corneal dystrophy (LCD) is a progressive disease, whose clinical features are varied in different stages.It is rarely be reported that clinical findings of different stages and factors of promoting the occurrence and development on LCD in a family.

Objective

The aim of this study was to identify the characteristics of the pedigree and clinical features of different stages in a LCD family, and further to discuss its influence factors.

Methods

A cross-sectional study was performed in this study.A Chinese family with LCD was enrolled in Shenzhen Eye Hospital from 2015 to 2016.Questionnaires for disease-related history, visual acuity measurement, ocular anterior segment examination and color photography were carried out for all the members of the family.In addition, anterior segment OCT (AS-OCT), laser scanning confocal microscope and corneal endothelium microscope were used to observe the morphology of corneal stroma and changes of corneal endothelial cells.The pedigree chart was drawn by Cyrillic2.1 software and analyzed based on Mendel law.

Results

This family included 5 generations of 73 members.Patients with LCD were found in each generation with similar morbidity in different gender, which followed the law of autosomal dominant inheritance.Eleven patients were found in 49 members related with Ⅲ1 of this family with the prevalence rate of 22.45% and onset age at 21-50 years old, and the course of disease was 3-34 years.All of the members had no systemic disease except for two patients (Ⅲ1 and Ⅲ5) with hypertension.In the early stage of LCD, some bifurcate striolae appeared in the patients’ corneal stroma without symptoms for many years.In the progressive stage, there was corneal irritation symptom accompanying with vision’s decrease in the eyes with LCD.The bifurcate striolae were increased, widened and interwoven into lattice lines that the boundaries gradually became fuzzy, then corneal macula was formed because of recurrent corneal infiltration, and eventually resulted in corneal leucoma.High reflection corresponding to the pathologic region was showed by laser scanning confocal microscope and AS-OCT.No significant differences were found in corneal endothelial cell density and the percentage of hexagonal cells between LCD patients and normal phenotype families (t=1.887, P=0.075; t=-0.719, P=0.481). Penetrating keratoplasty was performed in a patient with corneal opacity and serious corneal opacity occurred near the surgical incision one year after the surgery.One patient was diagnosed as LCD 2 years after laser assisted in-situ keratomileusis.One patient was a welder.

Conclusions

LCD is autosomal dominant inheritance in the family.The clinical manifestations of LCD in the early, progressive and late stage can be seen in the pedigree, which offers a reference for ophthalmologists.Corneal surgery and lesion may induce the onset or aggravation of LCD.

Key words:

Corneal dystrophies, hereditary/pathology; Pedigree/genetics; Autosomal-dominant heritance; Phenotype; Environmental exposure; Disease progression; Lattice corneal dystrophy

Contributor Information

Peng Shiming
Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen 518040, China
Zhao Jun
Zhu Tianhui
Huang Xiaosheng
Chen Wenjie
Mei Shaoyi
Wang Yan
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Updated: September 4, 2019 — 1:34 pm