Table 1.
Defects of the Anterior Eye.
| Ocular Disease | Reference | Model | Zebrafish Features * | Human Features * |
|---|---|---|---|---|
| Cataracts (congenital or age-related) | Morris, 2011 [30] | Extensive review | ||
| Li et al., 2012 [31] | Mutation of crygc | Embrionic lens defects | Congenital cataract phenotype | |
| Wu, Zou, Mishr & Mchaourab, 2018 [32] | Mutation of cryga and crygb | |||
| Mishra et al., 2018 [33] | Mutation of crygb | |||
| Vorontsova, Gehring, Hall, & Schilling, 2018 [34] | Mutation of aqp0a and aqp0b | |||
| Zhang et al., 2020 [35] | dnase1l1l knockout | Lens denucleation defect and cataract | Not described | |
| Anophthalmia (A) | Yin et al., 2014 [19] | Mutation of rx3 | Anophthalmia and expanded forebrain | Microphthalmia and anophthalmia |
| Synophthlamia/cyclopia | Santos-Ledo et al., 2013 [20] | six3a, rx3 and rx1 disruption | Cyclopia | Holoprosencephaly and cyclopia |
| Swartz et al., 2013 [36] | vangl2, plk1, hinfp, mars, and foxi1 disruption | Synophthalmia and narrowing of the palatal skeleton | Not described | |
| Coloboma (C) | Pillai-Kastoori et al., 2014 [21] | Mutation of sox11 | Delayed and abnormal lens formation, coloboma, and reduction in rod photoreceptors | Coloboma phenotype |
| Weaver, Piedade, Meshram, & Famulski, 2018 [22] | pax2a depletion | Optic fissure (OP) failure | Not described | |
| Ouyang et al., 2022 [37] | Loss-of-funtion of hnrnph1 | Coloboma | High myopia | |
| Corneal opacities | Reis et al., 2019 [38] | Mutation of wdr37 | Cataract, microphthalmia, glaucoma, corneal clouding | Corneal opacity, coloboma, microcornea |
| Iris hypoplasia | Chawla, Swain, Williams, & Bohnsack, 2018 [23] | Increase/decrease in retinoic acid modulating myoc and pitx2 | Changes in the ventral iridocorneal angle and decreased aqueous outflow | Corneal, iris, and trabecular meshwork abnormalities |
| Aniridia | Seese et al., 2021 [24] | Loss-of-function of mab21l1 | Congenital glaucoma aphakia, malformed retina, and abnormally thick cornea, severe microphthalmia, disorganized retinal lamination, abnormal anterior structures | Microphthalmia, variable aniridia, coloboma, microcornea, lens defects (microspherophakia, cataracts) and nystagmus |
| Peter’s anomaly | Shi et al., 2005 [25] | Mutation of pitx3 | Lens or other anterior segment defects | Anterior segment dysgenesis, Peter’s anomaly, and cataracts. |
| Axenfeld–Rieger syndrome | Reviewed by French, 2021 [39] | Extensive review | ||
| Microphthalmia (M) | Casey et al., 2011 [40] | Mutation of stra6 | Congenital eye malformations | Non-syndromic anophthalmia |
| Aphakia | Gath & Gross, 2019 [26] | Loss-of-function of mab21l2 | Lens and retina defects, coloboma | Defects of lens development |
| Corneal dystrophies | Oliver et al., 2015 [41] | Mutation of col17a1a | Not described | Epithelial recurrent erosion dystrophy (ERED) |
| Human congenital nystagmus (HCN)/infantile nystagmus syndrome (INS) | Huang et al., 2006 [27] | Defective retinotectal projections | Strong spontaneous eye oscillations | Congenital nystagmus |
| Maurer, Huang, & Neuhauss, 2011 [28] | ||||
| Huber-Reggi et al., 2011 [29] | ||||
* Features specifically related to eye disorders.