Spheroidal Degeneration in H626R TGFBI Variant Lattice Dystrophy

Abstract

The presence of spheroidal deposits in a subset of affected patients, variability in presentation within an individual and between family members, predominant anterior corneal stromal location and nonimmunoreactivity of deposits for keratoepithelin suggest that these deposits are degenerative in nature. The deposits may arise from ultraviolet light-altered proteins diffused from the limbus, which form a nidus for keratoepithelin deposition.

Advanced spheroidal degeneration

“…These spherules have histological similarities to elastic fibers of pingueculae, suggesting the presence of degenerate collagen, but differences between the two suggest the presence of an additional noncollagenous protein as well. 9 The findings obtained by histopathological staining of corneal tissues in spheroidal degeneration are consistent. 4 Immunoperoxidase staining has located droplets in areas with the greatest concentration of plasma proteins, such as albumin and immunoglobulins G and A, supporting the postulate that additional noncollagenous proteins are implicated in the disease pathophysiology.…”

Trauma-induced exacerbation of epithelial-stromal TGFBI lattice corneal dystrophy

“…Genetic testing revealed a sequence variation (H626R c.1877A4G) in exon 14 of the TGFBI gene. 4 RT-PCR analysis confirmed the presence of the H626R variant.…”

Detection of Secondary Corneal Lactoferrin Amyloidosis Based on Histologic Biopsies Combined with Mass Spectrometry: A Case Report

“…2012). After that, as gene sequencing and protein mass spectrometry techniques matured, people found many genes or proteins are as direct drivers or main compositions of corneal amyloidosis, such as TACSTD2, TGFBI and lactoferrin (Suesskind et al 2006;Kinoshita et al 2012;Lai et al 2014). Then experts from the association of amyloidosis tend to classify amyloidosis by the proteins or genes mainly involved, such as Alac, amyloidosis with lactoferrin (Picken et al 2020).…”