Phenotypic Variation in a Four-Generation Family with Aniridia Carrying a Novel PAX6 Mutation

Table 2

Summary of clinical findings.

Patient	VA	Initial anterior segment findings	Initial posterior segment findings	IOP (mmHg) glaucoma meds	Glaucoma diagnosis (Dx) and glaucoma surgeries	Other ocular surgeries
III-5	OD: 20/150; OS: 20/150; OU: 20/100	Corneal pannuses; Hypoplastic irides; Cortical cataracts	Foveal hypoplasia; Optic nerve Hypoplasia	OD: 23; OS: 19; No meds	No glaucoma	OD: none; OS: none
IV-1	OD: 20/200; OS: 20/200; OU: 20/200	Corneal pannuses; Hypoplastic irides	Foveal hypoplasia; Optic nerve Hypoplasia	OD: 13; OS: 14; No meds	Glaucoma Dx @ 0.3 years; OD: s/p Baerveldt 101-350; OS: s/p Baerveldt 101-350	Strabismus: s/p bilateral medial rectus recessions
III-8	OD: 20/125; OS: 20/200	Corneal epithelial irregularities and pannus with neovascularization; Hypoplastic irides	Foveal hypoplasia; Optic Nerve hypoplasia	OD: 14; OS: 17; Timolol; Dorzolamide	Glaucoma Dx @ 20 years; No glaucoma surgeries	OD: s/p ECCE-IOL; OS: s/p ECCE-IOL; Strabismus: s/p bilateral lateral rectus Recessions, s/p Bilateral Inferior Oblique Recessions, s/p Bilateral Medial Rectus Recessions with Inferior Transpositions, s/p Left Inferior Oblique Anteriorization
IV-4	OD: 20/300; OS: 20/250; OU: 20/200	Corneal pannus; Cortical and posterior subcapsular cataracts	Foveal hypoplasia; Optic nerve Hypoplasia	OD: 14; OS: 17; Timolol; Dorzolamide	Glaucoma Dx @ 5 years; OD: s/p Baerveldt 101-350; OS: s/p Baerveldt 101-350	Strabismus: s/p bilateral medial rectus recessions with half tendon infraplacement, s/p bilateral inferior oblique partial anteriorization
IV-5	OD: 20/380; OS: 20/380; OU: 20/260	Hypoplastic irides; Focal cataract OD	Foveal hypoplasia	OD: 20; OS: 15; Timolol; Dorzolamide	Glaucoma Dx @ 2 years; No glaucoma surgeries	OD: none; OS: none
III-11	OD: CF @ 1 ft; OS: CF @ 1 ft	Peters anomaly; Partial hypoplastic irides	Foveal hypoplasia	OD: 20; OS: 15; Timolol	Glaucoma Dx @ 6 years; OD: none; OS: s/p trabeculectomy with mitomycin C × 2, s/p cyclophotocoagulation × 2	OD: s/p penetrating keratoplasty; OS: s/p ECCE, s/p superficial keratectomy, s/p penetrating keratoplasty
IV-6	OD: 20/150; OS: 20/100	Corneal pannuses; Hypoplastic irides; Posterior subcapsular cataracts	Foveal hypoplasia	OD: unable; OS: unable	No glaucoma	OD: none; OS: none

ECCE: extracapsular cataract extraction; IOL: intraocular lens; CF: counting fingers.