Table 2 Clinical features of affected individuals from KC families with VSX1 coding variants
Family ID | BCVA | Scisorrs’ retinoscopic reflex | Location of corneal thinning | Corneal topography | Thinnest | Fleisher's ring | Apical corneal scarring | KC |
|---|---|---|---|---|---|---|---|---|
Pachymetry | ||||||||
(μm) | ||||||||
KC–01_II:2 | 0.15/ 0.1 | + | RE: Central | RE, LE: Infero-superior, asymmetry Inferior cone, steepening corresponds with anterior, and posterior elevation. | RE: 447 | BE: + | RE: + | Both eyes |
LE: Inferior | LE : 450 | |||||||
KC–01_II:1 | 0/ 0 | + | RE: Central | RE: Infero-superior, asymmetry, Infero nasal cone. | RE: 482 | RE: + | - | RE: + |
LE: Normal | LE: 493 | LE: Normal | ||||||
LE: Normal | ||||||||
KC–01_I:2 | 0.47/0 | + | RE: Infero temporal cone | RE: Inferior-Superior, asymmetry, Infero temporal cone, central cone with skewing of axis of 40° | RE: 404 | RE: + | - | RE: + |
LE: 440 | LE: Normal | |||||||
LE: Normal | ||||||||
LE: Normal | ||||||||
KC–02_II:1 | 0.15/0.15 | - | RE: Central | RE: Posterior elevation | RE: 490 | BE: + | - | Both eyes |
LE: Central | LE: Central corresponds with thinnest pachymetry and posterior elevation | LE: 414 | ||||||
KC–02_I:2 | 0/ 0 | - | RE: Normal | RE: Normal | RE: 506 | - | - | RE: Normal |
LE: Infero- temporal | LE: Posterior elevation, | LE: 488 | ||||||
Infero-temporal cone | LE: + | |||||||
KC–03_II:2 | 0.47/ 0.15 | - | RE: Central | RE: Advanced KC, | RE: 333 | + | - | Both eyes |
LE: Central | central cone with gross posterior elevation | LE: 443 | ||||||
LE: Central cone | ||||||||
KC–03_II:1 | 0/0 | RE: Central | RE: Posterior elevation, | RE: 526 | - | - | Both eyes | |
LE: Inferior | Central cone LE: Infero nasal cone | LE: 532 | ||||||
KC–03_I:2 | 0.15/0.15 | - | RE: Central | BE: Inferior cone, inferior- superior asymmetry with similar involvement in both eyes | RE: 419 | - | - | Both eyes |
LE: Central | LE: 421 |