Anna Nowińska1,2, Edyta Chlasta-Twardzik3,4, Michał Dembski3,4, Ewa Wróblewska-Czajka3,4, Klaudia Ulfik-Dembska3,4, Edward Wylęgała3,4. 1. Chair and Clinical Department of Ophthalmology, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, ul. Panewnicka 65, 40-760, Katowice, Poland. anna.nowinska@sum.edu.pl. 2. Ophthalmology Department, Railway Hospital in Katowice, Katowice, Poland. anna.nowinska@sum.edu.pl. 3. Chair and Clinical Department of Ophthalmology, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, ul. Panewnicka 65, 40-760, Katowice, Poland. 4. Ophthalmology Department, Railway Hospital in Katowice, Katowice, Poland.
Abstract
BACKGROUND: Corneal dystrophies are a group of rare, inherited disorders that are usually bilateral, symmetric, slowly progressive, and not related to environmental or systemic factors. The majority of publications present the advanced form of the disease with a typical clinical demonstration. The initial signs and symptoms of different epithelial and stromal corneal dystrophies are not specific; therefore, it is very important to establish the early characteristic corneal features of these disorders that could guide the diagnostic process. CASE PRESENTATION: The main purpose of this study was to report the differential diagnosis of a pediatric patient with bilateral anterior corneal involvement suspected of corneal dystrophy. An 8-year-old male patient presented with asymptomatic, persistent, superficial, bilateral, diffuse, anterior corneal opacities. Slit lamp examination results were not specific. Despite the lack of visible stromal involvement on the slit lamp examination, corneal analysis based on confocal microscopy and optical coherence tomography revealed characteristic features of macular corneal dystrophy (MCD). The diagnosis of MCD was confirmed by CHST6 gene sequencing. The early corneal characteristic features of MCD, established based on the findings of this case report, include corneal astigmatism (not specific), diffuse corneal thinning without a pattern of corneal ectasia (specific), and characteristic features on confocal microscopy (specific), including multiple, dark, oriented striae at different corneal depths. CONCLUSIONS: The clinical examination should be complemented with corneal imaging techniques, such as confocal microscopy and optical coherence tomography. In patients suspected of corneal dystrophy, genetic testing plays an important role in establishing the final diagnosis.
BACKGROUND:Corneal dystrophies are a group of rare, inherited disorders that are usually bilateral, symmetric, slowly progressive, and not related to environmental or systemic factors. The majority of publications present the advanced form of the disease with a typical clinical demonstration. The initial signs and symptoms of different epithelial and stromal corneal dystrophies are not specific; therefore, it is very important to establish the early characteristic corneal features of these disorders that could guide the diagnostic process. CASE PRESENTATION: The main purpose of this study was to report the differential diagnosis of a pediatric patient with bilateral anterior corneal involvement suspected of corneal dystrophy. An 8-year-old male patient presented with asymptomatic, persistent, superficial, bilateral, diffuse, anterior corneal opacities. Slit lamp examination results were not specific. Despite the lack of visible stromal involvement on the slit lamp examination, corneal analysis based on confocal microscopy and optical coherence tomography revealed characteristic features of macular corneal dystrophy (MCD). The diagnosis of MCD was confirmed by CHST6 gene sequencing. The early corneal characteristic features of MCD, established based on the findings of this case report, include corneal astigmatism (not specific), diffuse corneal thinning without a pattern of corneal ectasia (specific), and characteristic features on confocal microscopy (specific), including multiple, dark, oriented striae at different corneal depths. CONCLUSIONS: The clinical examination should be complemented with corneal imaging techniques, such as confocal microscopy and optical coherence tomography. In patients suspected of corneal dystrophy, genetic testing plays an important role in establishing the final diagnosis.
Authors: Jayne S Weiss; Hans Ulrik Møller; Anthony J Aldave; Berthold Seitz; Cecilie Bredrup; Tero Kivelä; Francis L Munier; Christopher J Rapuano; Kanwal K Nischal; Eung Kweon Kim; John Sutphin; Massimo Busin; Antoine Labbé; Kenneth R Kenyon; Shigeru Kinoshita; Walter Lisch Journal: Cornea Date: 2015-02 Impact factor: 2.651
Authors: N P Liu; S Dew-Knight; M Rayner; F Jonasson; T O Akama; M N Fukuda; W Bao; J R Gilbert; J M Vance; G K Klintworth Journal: Mol Vis Date: 2000-12-13 Impact factor: 2.367
Authors: T O Akama; K Nishida; J Nakayama; H Watanabe; K Ozaki; T Nakamura; A Dota; S Kawasaki; Y Inoue; N Maeda; S Yamamoto; T Fujiwara; E J Thonar; Y Shimomura; S Kinoshita; A Tanigami; M N Fukuda Journal: Nat Genet Date: 2000-10 Impact factor: 38.330
Authors: J M Vance; F Jonasson; F Lennon; J Sarrica; K F Damji; J Stauffer; M A Pericak-Vance; G K Klintworth Journal: Am J Hum Genet Date: 1996-04 Impact factor: 11.025