Clinical and Genetic Aspects of the TGFBI -associated Corneal Dystrophies

• Published in: The ocular surface Vol. 12; no. 4; pp. 234 - 251
• Main Authors: Lakshminarayanan, R., PhD, Chaurasia, Shyam S., PhD, Anandalakshmi, Venkatraman, MSc, Chai, Shu-Ming, FRCS(Ed), Murugan, Elavazhagan, PhD, Vithana, Eranga N., PhD, Beuerman, Roger W., PhD, Mehta, Jodhbir S., FRCS(Ed)
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01-10-2014
• Subjects: amyloid; Cornea - metabolism; Corneal Dystrophies, Hereditary - genetics; Corneal Dystrophies, Hereditary - metabolism; corneal dystrophy; DNA - genetics; DNA Mutational Analysis; Extracellular Matrix Proteins - genetics; Extracellular Matrix Proteins - metabolism; granular corneal dystrophy; Humans; IC3D classification; lattice corneal dystrophy; Mutation; Ophthalmology; TGFBI; Transforming Growth Factor beta - genetics; Transforming Growth Factor beta - metabolism; transforming growth factor β; ALK; transforming growth factor β; PTK; Anterior lamellar keratoplasty; Mitomycin-C; IC3D classification; Thiel-Behnke corneal dystrophy; Photodynamic Laser Therapy; TGFBIp; PLT; Gelsolin; International Committee for Classification of Corneal Dystrophies; Laser epithelial keratomeileusis; LCDI; MMC; GSN; Phototherapeutic keratectomy; GCD1; TBCD; corneal dystrophy; GCD; IC3D; LASEK; GCD2; LCD; LASIK; Laser-assisted in situ keratomeileusis; Transforming growth factor β induced protein; Lattice corneal dystrophy type 1; amyloid; Penetrating keratoplasty; Transmission electron microscopy; RBCD; Granular corneal dystrophy type 1; granular corneal dystrophy; TGFBI; Granular corneal dystrophy type 2; PK; lattice corneal dystrophy; Reis-Bücklers corneal dystrophy; TEM
• ISSN: 1542-0124; 1937-5913
• DOI: 10.1016/j.jtos.2013.12.002

Abstract Corneal dystrophies are a group of inherited disorders localized to various layers of the cornea that affect corneal transparency and visual acuity. The deposition of insoluble protein materials in the form of extracellular deposits or intracellular cysts is pathognomic. Mutations in TGFBI are responsible for superficial and stromal corneal dystrophies. The gene product, transforming growth factor β induced protein (TGFBIp) accumulates as insoluble deposits in various forms. The severity, clinicopathogenic variations, age of the onset, and location of the deposits depend on the type of amino acid alterations in the protein. Until 2006, 38 different pathogenic mutants were reported for the TGFBI -associated corneal dystrophies. This number has increased to 63 mutants, reported in more than 30 countries. There is no effective treatment to prevent, halt, or reverse the deposition of TGFBIp. This review presents a complete mutation update, classification of phenotypes, comprehensive reported incidents of various mutations, and current treatment options and their shortcomings. Future research directions and possible approaches to inhibiting disease progression are discussed.