Table 1.

Clinical History and sdOCT & FA Findings

Patient No.	1	2	3	4	5

MRI	Not done	Thin corpus callosum and patchy subcortical and periventricular white matter disease	No MRI, normal neurologic examination	Immature myelination consistent with age, otherwise normal	Not done

IKBKG/NEMO mutation	+ ⁱ	Not done	Not done	Not done	Not done

BCVA (age)	(13 mos)	(2 yrs)	(21 mos)	(5 yrs)	(12 mos)
OD	Fix & Follow	Unmaintained Fixation	Fix & follow	20/60	Fix & follow
OS	Fix & Follow	Fix & Follow	Fix & follow	20/100	Fix & follow

Strabismus & amblyopia	Not noted	Present	Not noted	Present with nystagmus	Not noted

Foveal hypoplasia
OD	None	Present	None	Abnormal	None
OS	None	None	None	Present	None

Extraretinal neovascularization
OD	None	Present	Appeared as	Present	None
OS	None	Present	regressed OU	Present	None

Vascular abnormalities noted on fluorescein angiography	FAZ normal OU; Peripheral retina vascularized OU	irregular FAZ with vessel entering FAZ OD, nl FAZ OS; peripheral nonperfusion OU; extraretinal NV OU	FAZ normal OU; peripheral nonperfusion OU; extraretinal NV OD	Irregular FAZ OS>OD; peripheral nonperfusion OU; extraretinal NV OU	FAZ normal OU; Peripheral retina vascularized OU

Laser treatment	None	OU	OD	OU	None

Follow-up (mos)	11	31	17	61	<1

Features on sdOCT

Central foveal thickness	6 months	3 months	25 months	28 months
OD	128 um	162 um	210 um	656 um	ND
OS	132 um	125 um	190 um	808 um
	15 months	18 months	ND	54 months	ND
OD	144 um	228 um		270 um
OS	145 um	180 um		191 um

Foveal/parafoveal ratio	6 months	3 months	25 months	28 months	ND
OD	0.48	0.26	0.65	0.98
OS	0.53	0.40	0.60	0.96
	15 months	18 months	ND	54 months	ND
OD	0.51	0.81		0.86
OS	0.52	0.63		1.00

IS/OS junction
OD	Normal	Normal	Normal	Normal	ND
OS	Normal	Normal	Normal	Normal

Choroidal thickness	6 months	3 months	25 months	28 months	ND
OD	361 um	197 um	Unable ⁱⁱ	633 um
OS	265 um	241 um	Unable	607 um
	15 months	18 months		54 months
OD	441 um	166 um	ND	317 um
OS	259 um	233 um		184 um

ⁱ

Done at Casey Eye Institute – OHSU

ⁱⁱ

Unable to discern posterior aspect of choroid to obtain accurate measurement

FAZ- foveal avascular zone; BCVA – best-corrected visual acuity;

NV - neovascularization