IllnessCorneal dystrophy, differential diagnosis

NGS +

Corneal dystrophies (CDs) are genetically heterogeneous diseases characterized by the gradual accumulation of deposits in different layers, leading to changes in the transparency and refractive index of the cornea. Clinically, these diseases are divided into anatomic categories depending on which corneal layer is affected. Accordingly, CDs are divided into 4 categories: epithelial/subepithelial, epithelial-stromal, stromal and endothelial. CD patients may be asymptomatic, but if symptoms occur, there is typically bilateral visual acuity loss, usually in the form of irregular astigmatism. Symptoms can occur at any age, depending on the diagnosis. Depending on which corneal layer is affected, patients also present with photophobia, dry eyes, corneal edema and recurrent corneal erosions, especially in epithelial-based CDs, causing significant pain. Defects in the endothelial cell layer lead to scarring, vascularization and consequent loss of vision. For the majority of CDs, a correlation between phenotype and genotype has not been established. CDs are inherited in an autosomal dominant, recessive or X. chromosomal manner. Since the diagnostic yield by molecular genetics is limited (~70%), a negative DNA test result does not exclude the ophthalmologic diagnosis.

References: https://pubmed.ncbi.nlm.nih.gov/31301286/

https://www.ncbi.nlm.nih.gov/books/NBK2690/

https://www.ncbi.nlm.nih.gov/books/NBK91457/

https://www.ncbi.nlm.nih.gov/books/NBK1304/

• Alias: Bietti crystalline corneoretinal dystrophy
• Alias: Cornea Dystrophie
• Alias: Corneal dystrophy, Fuchs endothelial,
• Alias: Corneal dystrophy, congenital stromal
• Allelic: Amyloidosis, Finnish type (GSN)
• Allelic: Anterior segment dysgenesis 2, multiple subtypes (FOXE3)
• Allelic: Aortic aneurysm, familial thoracic 11, susceptibility to (FOXE3)
• Allelic: Cataract 34, multiple types (FOXE3)
• Allelic: Craniofacial anomalies + anterior segment dysgenesis syndrome (VSX1)
• Allelic: Deafness, autosomal dominant 28 (GRHL2)
• Allelic: Deafness, autosomal recessive 77 (LOXHD1)
• Allelic: Ectodermal dysplasia/short stature syndrome (GRHL2)
• Allelic: Epidermolysis bullosa, junctional, localisata variant (COL17A1)
• Allelic: Epidermolysis bullosa, junctional, non-Herlitz type (COL17A1)
• Allelic: Pitt-Hopkins syndrome (TCF4)
• Bietti crystalline corneoretinal dystrophy (CYP4V2)
• Brittle cornea syndrome 1 (ZNF469)
• Brittle cornea syndrome 2 (PRDM5)
• Corneal dystrophy, Avellino type (TGFBI)
• Corneal dystrophy, Fuchs endothelial, 1 (COL8A2)
• Corneal dystrophy, Fuchs endothelial, 3 (TCF4)
• Corneal dystrophy, Fuchs endothelial, 4 (SLC4A11)
• Corneal dystrophy, Fuchs endothelial, 6 (ZEB1)
• Corneal dystrophy, Fuchs endothelial, 8 (AGBL1)
• Corneal dystrophy, Groenouw type I (TGFBI)
• Corneal dystrophy, Reis-Bucklers type (TGFBI)
• Corneal dystrophy, Schnyder type (UBIAD1)
• Corneal dystrophy, Thiel-Behnke type (TGFBI)
• Corneal dystrophy, congenital stromal (DCN)
• Corneal dystrophy, epithelial basement membrane (TGFBI)
• Corneal dystrophy, gelatinous drop-like (TACSTD2)
• Corneal dystrophy, lattice type I, IIIA (TGFBI)
• Corneal dystrophy, posterior polymorphous, 1 (OVOL2)
• Corneal dystrophy, posterior polymorphous, 2 (COL8A2)
• Corneal dystrophy, posterior polymorphous, 3 (ZEB1)
• Corneal dystrophy, posterior polymorphous, 4 (GRHL2)
• Corneal endothelial dystrophy + perceptive deafness (SLC4A11)
• Corneal endothelial dystrophy, AR (SLC4A11)
• Corneal fleck dystrophy (PIKFYVE)
• Epithelial recurrent erosion dystrophy (COL17A1)
• Keratoconus 1 (VSX1)
• Macular corneal dystrophy (CHST6)
• Meesmann corneal dystrophy 1 (KRT12)
• Meesmann corneal dystrophy 2 (KRT3)