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| Orbit | — | Microphthalmia (110/37%) | Hypotelorism (24/8%) | Hypertelorism (22/7%) | Short axial length (4/1%) | | | | | | |
| Anterior segment | Anterior chamber | Shallow anterior chamber (12/4%) | Deep anterior chambers (2/<1%) | | | | | | | | |
| Cornea | Microcornea (111/38%) | Thick corneas (4/1%) | Corneal opacities (3/1%) | Corneal farinata (1/<1%) | Band keratopathy (1/<1%) | Corneal keratosis (1/<1%) | Abnormal Descemet’s membrane (1/<1%) | Anteriorly deviated Schwalbe’s line (1/<1%) | | |
| Sclera | Blue sclera (1/<1%) | | | | | | | | | |
| Pupil | Persistent pupillary membranes (13/4%) | Eccentric pupils (3/1%) | | | | | | | | |
| Lens | Cataracts (17/6%) | Lens opacities (2/<1%) | White retrolental masses (1/<1%) | | | | | | | |
| Uvea (iris, ciliary body) | Pale/atrophic irides (11/4%) | Uveitis (10/3%) | General iris abnormalities (7/2%) | Synechiae (4/1%) | Hypoplastic anterior iris stroma (3/1%) | Ciliary body cysts (2/<1%) | Flat iris (1/<1%) | Iridoschisis (1/<1%) | Inferior iris coloboma (1/<1%) | Dysplastic iris (1/<1%) |
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| Posterior segment | Uvea (choroid) | Thick choroid (2/<1%) | Thin choroid (1/<1%) | | | | | | | | |
| Vitreous | Vitreous degeneration (1/<1%) | Vitreous membrane attachment to optic nerve and lens (1/<1%) | Persistent hyperplastic primary vitreous (1/<1%) | | | | | | | |
| Retina/fundus | Dysplastic retina/fundus (3/1%) | Pale retina/fundus (2/<1%) | Thread-like retinal vasculature (2/<1%) | Dystrophic retinal epithelium (1/<1%) | Hypoplastic macula (1/<1%) | Absent fundal glow with B-scan ultrasound (1/<1%) | | | | |
| Optic disc | Pale/atrophic optic disc (3/1%) | Dysplastic optic disc (2/<1%) | Ellipsoid optic disc (1/<1%) | Optociliary vein presence (1/<1%) | Optic disc hypervascularity (1/<1%) | | | | | |
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| Ocular adnexa | Eyelid | Short/narrow palpebral fissures (56/19%) | Epicanthus (36/12%) | Telecanthus (11/4%) | Ptosis (7/2%) | Blepharophimosis (1/<1%) | Entropion (1/<1%) | Ectropion (1/<1%) | Epiblepharon (1/<1%) | Mucosal hypertrophy (1/<1%) | |
| Eyebrow/eyelash | Madarosis (19/6%) | Flared eyebrows (3/1%) (2 medially flared) | Synophyrs (1/<1%) | | | | | | | |
| Nasolacrimal duct | Nasolacrimal duct abnormalities (2/<1%) | Hypolacrimation (1/<1%) | | | | | | | | |
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| Other | Refractive errors | Myopia (16/5%) (2 anisometropic) | Hyperopia (8/3%) (2 anisometropic) | Astigmatism (1/<1%) | | | | | | | |
| Eye movement disorders | Strabismus (27/9%) (9 esotropic, 1 exotropic) | Nystagmus (8/3%) | Amblyopia (3/1%) | Duane syndrome (2/<1%) | Brown syndrome (1/<1%) | | | | | |
| Additional eye disorders | Glaucoma (51/17%) (4 closed-angle, 1 open-angle) | Paracentral scotoma (1/<1%) | | | | | | | | |
| ERG/neurological | Abnormal ERG (2/<1%) | Delayed visual evoked responses (2/<1%) | Occipital subcortical white matter changes (1/<1%) | | | | | | | |
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