A novel TGFBI phenotype with amyloid deposits and Arg124Leu mutation.

AIM: To report a unique transforming-growth-factor-ß-induced (TGFBI) gene phenotype with Arg124Leu mutation in an Indian family. METHODS: A family with 5 affected members presented to our hospital and were clinically diagnosed as suffering from Bowman layer dystrophy after examination. Peripheral blood samples were collected in EDTA from all for genomic DNA isolation. Keratoplasty was performed in 2 patients followed by histopathological evaluation of the cornea. DNA was subjected to PCR amplification of TGFBI and tumor-associated calcium signal transducer 2 (TACSTD2) genes followed by direct sequencing of all coding exons to identify the causative mutations. RESULTS: Slitlamp examination of the cornea revealed superficial reticular opacities with diffuse anterior stromal haze suggestive of Bowman layer dystrophy but histopathological examination revealed the presence of both hyaline and amyloid deposits in the cornea. TGFBI sequencing revealed a heterozygous mutation, Arg124Leu (c.418 G→T) in all the affected members while TACSTD2 did not show any changes. CONCLUSIONS: Molecular analysis established the diagnosis of a novel TGFBI variant with Arg124Leu mutation. The presence of lattice- like lines clinically and histopathological demonstration of both amyloid and hyaline deposits with the occurrence of Arg124Leu mutation in all the affected family members are an unusual phenomenon and are here described for the first time.

Corneal collagen cross-linking with and without simultaneous intrastromal corneal ring segment implantation: One-year pilot study.

AIM: The aim of this study was to assess and compare the visual, refractive, and topographic outcomes of keratoconic eyes treated with corneal collagen cross-linking combined with and without same day intrastromal corneal ring segment over the first 12 months. METHODS: This prospective randomized study analyzed 38 eyes of 30 consecutive keratoconus patients aged 26.21 ± 6.97 (range = 15-41) years. A total of 20 eyes were treated with collagen cross-linking alone, and 18 eyes underwent collagen cross-linking combined with simultaneous femtosecond laser-assisted intrastromal corneal ring segment. Visual acuity, manifest refraction, and corneal topography (using a rotating Scheimpflug topographer) were assessed and compared between the two groups at baseline, 6, and 12 months. RESULTS: On an average follow-up duration of 12.2 ± 0.50 (range = 11-13) months, both collagen cross-linking alone and collagen cross-linking with simultaneous intrastromal corneal ring segment implantation were effective. However, collagen cross-linking plus intrastromal corneal ring segment resulted in an additional improvement of uncorrected distance visual acuity of 0.16 (95% confidence interval = 0.01 to 0.32) logarithm of the minimum angle of resolution units (p = 0.035), cylindrical power by 1.16 D (95% confidence interval = 0.25 to 2.06, p = 0.014), and spherical equivalent by 1.40 D (95% confidence interval = -2.71 to -0.08, p = 0.038) at 1 year. During the study period, no serious intraoperative or postoperative complications were noted in either group. CONCLUSION: One-year follow-up results suggest that collagen cross-linking with simultaneously combined intrastromal corneal ring segment implantation could yield an additive visual and refractive outcome. The combined procedure is safe and merits consideration for the treatment of progressive keratoconus to achieve better visual rehabilitation.