Mutations of the CYP1B1 gene in congenital anterior staphylomas

Figures & data

Figure 1 Patient 1.

Notes: Top: note the bilateral opacified, ectatic corneas, with protrusion of the globe and limbal staphylomas. Bottom left: UBM showing iris adherent to the posterior corneal surface (arrow) and absence of the crystalline lens (horizontal axial scan). Bottom right: T2 MRI bilateral large globes with dislocated lenses in the vitreous cavity (arrowheads). Dilation of the optic nerve sheath in the peripapillary region, suggestive of optic nerve hydrops, is noted.
Abbreviations: MRI, magnetic resonance imaging; UBM, ultrasound biomicroscopy.

Figure 2 Patient 2.

Notes: Top: color photograph of the right eye, showing an ectatic vascularized cornea, with corneal/limbal staphylomas. Bottom left: UBM showing the iris adherent to the posterior corneal surface (arrow) and absence of the crystalline lens (radial scan with angle at 9 o’clock). Bottom right: T2 MRI showing bilateral enlarged globes with aphakia. Dilation of the optic nerve sheath in the peripapillary region, suggestive of optic nerve hydrops, is noted.
Abbreviations: MRI, magnetic resonance imaging; UBM, ultrasound biomicroscopy.

Table 1 Clinical features and course of patients with congenital anterior staphylomas

Age at presentation/sex	Family history	IOP at presentation/last visit (mmHg)	Clinical features	Condition at last visit at 6 yrs of age	Genetic studies
Patient 1
Birth/male	Parents first cousins; no other affected family members	18/18	VA: fixes and follows both eyes Buphthalmia OU Cloudy, ectatic corneas with ill-defined limbus; corneal diameters approximately 15 mm OD and 14 mm Os Iris adherent to cornea Circumferential limbal staphylomas; dislocated lens in vitreous	VA: HM OD, CF 1 foot s; eye exam unchanged since birth Treated with 0.5% timolol maleate OU	p450 (CYP1B1) gene: Homozygous misssense mutation g.3987G>A (p.G61E) in patient The same mutation in both parents in a heterozygous state
Patient 2
Birth/male	Parents not related; no other affected family members	16.5 OD; 16 OS/16 OD; 20 OS	VA: fixes and follows; left eye more severely affected Enlarged ectatic corneas with scarring and vascularization OU Ill-defined staphylomatous limbus OU Iris adherent to cornea OU Congenital aphakia OU	VA: HM OU; condition unchanged since first presentation Treated with 0.5% timolol maleate and 0.5% apraclonidine OU	P450 (CYP1B1) gene: Compound heterozygous misssense mutations [g.4160 G>T (p.A119S) and g.8131 C>G (p.L432V)] Father had g.8131 C>G mutation in a heterozygous status. DNA not available from the mother for genetic testing

Abbreviations: CF, counting fingers; DNA, deoxyribonucleic acid; HM, hand motions; IOP, intraocular pressure; OD, right eye; OS, left eye; OU, both eyes; VA, visual acuity.