Detailed corneal and genetic characteristics of a pediatric patient with macular corneal dystrophy - case report

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.

Frequency of Different Types of Endothelial Corneal Dystrophies by Age, Gender, and Visual Acuity in Punjab, Pakistan

“…The cornea is a dome-shaped front portion of the eye where light is focused [1]. In ophthalmology, corneal dystrophies (CD) are characterized as a group of bilateral, symmetrical inherited disorders that progress slowly with no systemic or environmental factors [2]. Corneal dystrophies can be classified as Phenotypic approaches such as "anatomichistologic", classification based on corneal layers (epithelial layer, epithelial-stromal layer, and stromal layer or endothelial-descemet layer) and another is "anatomic-descriptive" that is based on appearance, which appears in the affected corneal layers (granular, lattice, mosaic, amyloid, etc.)…”