Table 2

Summary of MRI/MRA findings for individuals with PITX2-related ARS and FOXC1-related ARS

ID	Gene/variant	Study	Age (years)	Development	Cerebellum	White matter	Ventricles	Corpus callosum	Arachnoid cyst	Other	Ocular abnormalities
Ind 4	PITX2- PTC	MRI	40–45	WNL	Normal	Normal	Normal	Normal	None	–	Possible mild staphyloma
Ind 7	PITX2- PTC	MRI	45–50	WNL	Normal	WMH: few punctate foci in frontal and parietal subcortical WM	Normal	Normal	None	–	None
Ind 25	FOXC1- DEL	MRI	30–35	LD/delays*	Normal	WMH: few punctate foci in frontal subcortical WM	Normal	Normal	None	–	Enhancing lesion in L extraconal space
Case 282		MRI	50–55	WNL	Low lying cerebellar tonsils	WMH: numerous ill-defined lesions in PV and deep WM	Indwelling R shunt catheter	Normal	None	–	None
Ind 29		MRI	<1	WNL	Normal	WMH: numerous ill-defined lesions in PV, deep and subcortical WM; enlarged perivascular spaces	Mild colpocephaly	Normal	None	–	None
Ind 32		MRI	60–65	WNL	Normal	WMH: numerous ill-defined lesions in PV, deep and subcortical WM	Mild colpocephaly	Normal	None	–	B staphyloma
Ind. 33		MRI	<1	CI	DWM	WMH: ill-defined lesions in the PV and deep WM	Moderate ventriculomegaly	CC dysgenesis	Large posterior fossa cyst	–	B staphyloma. R PHPV
Ind 34		MRI	10–11	Early delays resolved	Normal	WMH: ill-defined faint lesions in PV WM, prominent perivascular spaces, stable at 1.5 years later	Mild colpocephaly	Normal	None	–	None
Ind 23		MRI	40–45	WNL		WMH: stable, non-specific foci in PV and subcortical WM	Normal	Abnl inferior splenium border	None	Prominent sella	Enlarged R globe
Ind 37	FOXC1- PTC	MRI	10–15	WNL	Normal	Normal	Normal	Normal	None	Possible small heterotopia	None
Ind 41		MRI	5–10	CI*	Normal	WMH: numerous ill-defined lesions in PV, deep and subcortical WM; stable at 1 y later	Mild colpocephaly	Mild posterior volume loss	Small L anterior temporal	–	B staphyloma
Ind 45		MRI	1–2	Early delays	Normal	WMH: ill-defined lesions in PV and deep WM	Mild colpocephaly	Normal	Suprasellar interpeduncular cisterns	Small Rathke cleft cyst	None
Ind 46		MRI/MRA	<1	WNL	Normal	WHM: lesions in parietal PV WM	Mild colpocephaly	Normal	None	–	None
Ind 47		MRI	20–25	WNL	Normal	WMH: few punctate foci in frontal and parietal PV and subcortical WM	Mild ventriculomegaly with colpocephaly	Mild volume loss	L anterior temporal and anterior to cerebellum	–	None
Ind 48		MRI	50–55	WNL	Normal	WMH: numerous ill-defined lesions in PV, deep and subcortical WM	Mild ventriculomegaly with colpocephaly	Mild volume loss	B anterior temporal and L cerebellopontine angle	–	None
Ind 54		MRI/MRA	1–2	Early delays resolved	Normal	WMH: ill-defined lesions in PV WM	Mild colpocephaly	Normal	None	R cavernous internal carotid tortuosity	Small non-enhancing lesions in the orbits
Ind 55		MRI	10–15	WNL	Low lying cerebellar tonsils	WMH: several punctate foci in subcortical WM, stable since first MRI at 1 year	Mild ventriculomegaly	Mild volume loss	Suprasellar arachnoid cyst	Circle of Willis distortion; cystic encephalomalacia in SEZ	None
Ind 76	FOXC1- MIS	MRI	<1	DD/CI		Too young to evaluate					B very shallow anterior chamber
Ind 76	FOXC1- MIS	MRI	5–10	DD/CI	Normal	WMH: numerous ill-defined lesions in PV and deep WM	Mild colpocephaly	Normal	None	–	B intraocular lens removed. R microphthalmia

Bold features are shown in figure 3.
*Delayed treatment.
†Review of report only.
ARS, Axenfeld-Rieger syndrome; B, bilateral; CC, corpus callosum; CI, cognitive impairment; DD, developmental delay; DEL, deletion; DWM, Dandy-Walker malformation; Ind, individual; L, left; MIS, missense; MRA, MR angiography; PHPV, persistent hyperplastic primary vitreous; PTC, premature termination codon; PV, periventricular; R, right; SEZ, subependymal zone; WM, white matter; WMH, white matter hyperintensity; WNL, within normal limit.