The Physiological Significance of Gerontoxon

Transforming growth factor beta‐induced p.(L558P) variant is associated with autosomal dominant lattice corneal dystrophy type IV in a large cohort of Spanish patients

“…In line with our finding, it has been reported that non-classical TGFBI variants, like p.(L558P), often produce variant, overlapping or mixed CD that can be called variant LCD following IC3D conventions. 4 Interestingly, this patient presented hyperlipidaemia and gerontoxon, a perilimbal abnormality involving both cornea and sclera, 16 which is a clinical sign for underlying chronic hyperlipidaemia. 17 Therefore, it can be speculated that hyperlipidaemia may act as a modifier factor this type of CD, although this hypothesis requires further confirmation.…”

Transforming growth factor beta‐induced p.(L558P) variant is associated with autosomal dominant lattice corneal dystrophy type IV in a large cohort of Spanish patients

“…In line with our finding, it has been reported that non-classical TGFBI variants, like p.(L558P), often produce variant, overlapping or mixed CD that can be called variant LCD following IC3D conventions. 4 Interestingly, this patient presented hyperlipidaemia and gerontoxon, a perilimbal abnormality involving both cornea and sclera, 16 which is a clinical sign for underlying chronic hyperlipidaemia. 17 Therefore, it can be speculated that hyperlipidaemia may act as a modifier factor this type of CD, although this hypothesis requires further confirmation.…”

Significance of corneal arcus

“…There was no correlation between the thickening of the peripheral arteries or increased diastolic blood pressure with the incidence of arcus. [ 3 ] Thirty-nine percent of patients had associated cataract that was comparable to the control group which had 37% [ Table 3 ].…”

Transforming growth factor beta‐induced p.(L558P) variant is associated with autosomal dominant lattice corneal dystrophy type IV in a large cohort of Spanish patients

“…In line with our finding, it has been reported that non-classical TGFBI variants, like p.(L558P), often produce variant, overlapping or mixed CD that can be called variant LCD following IC3D conventions. 4 Interestingly, this patient presented hyperlipidaemia and gerontoxon, a perilimbal abnormality involving both cornea and sclera, 16 which is a clinical sign for underlying chronic hyperlipidaemia. 17 Therefore, it can be speculated that hyperlipidaemia may act as a modifier factor this type of CD, although this hypothesis requires further confirmation.…”

Significance of corneal arcus

“…There was no correlation between the thickening of the peripheral arteries or increased diastolic blood pressure with the incidence of arcus. [ 3 ] Thirty-nine percent of patients had associated cataract that was comparable to the control group which had 37% [ Table 3 ].…”

Transforming growth factor beta‐induced p.(L558P) variant is associated with autosomal dominant lattice corneal dystrophy type IV in a large cohort of Spanish patients

“…In line with our finding, it has been reported that non-classical TGFBI variants, like p.(L558P), often produce variant, overlapping or mixed CD that can be called variant LCD following IC3D conventions. 4 Interestingly, this patient presented hyperlipidaemia and gerontoxon, a perilimbal abnormality involving both cornea and sclera, 16 which is a clinical sign for underlying chronic hyperlipidaemia. 17 Therefore, it can be speculated that hyperlipidaemia may act as a modifier factor this type of CD, although this hypothesis requires further confirmation.…”

Significance of corneal arcus

“…There was no correlation between the thickening of the peripheral arteries or increased diastolic blood pressure with the incidence of arcus. [ 3 ] Thirty-nine percent of patients had associated cataract that was comparable to the control group which had 37% [ Table 3 ].…”