Table. Ocular Anomalies in Patients With EPAS1 Gain-of-Function Mutation Syndrome.

Variable	Patient
	1a,b	2a,b	3a
Age at onset of diagnosed condition, y
Polycythemia	2	Birth	Birth
PGL/PHEO	15	14	18
Ampullary somatostatinoma	17	29	22
First evidence of eye disease	3	5	18
Mutation analysis: tumors and circulating leukocytes
EPAS1 gain-of-function mutation	P531S	A530T	A530V
EPOR, HIF-1α, JAK2, PHD1/2, SDHB/C/D, VHL	Negative	Negative	Negative
Clinical characteristics, Snellen
Visual acuity at presentation to the NIH
OD	20/400	20/20	20/16
OS	20/20	20/25	20/16
Pertinent family history	None	None	None
Ophthalmic evaluation
Age at time of ophthalmic evaluation, y	15	32	24
Ophthalmoscopic imaging
Fibrosis over the optic disc
OD	Negative	Positive	Positive
OS	Positive	Positive	Positive
Optic disc edema
OD	Positive	Negative	Negative
OS	Negative	Negative	Negative
Retinal vessel tortuosity
OD	Positive	Positive	Positive
OS	Positive	Negative	Positive
Dilated veins
OD	Positive	Positive	Positive
OS	Negative	Positive	Positive
Morning glory anomaly
OD	Positive	Negative	Negative
OS	Negative	Negative	Negative
Retinal exudate
OD	Positive	Negative	Negative
OS	Negative	Negative	Negative
RPE changes
OD	Positive	Negative	Positive
OS	Negative	Negative	Positive
Fluorescein angiography
Leakage from veins
OD	Positive	Positive	NA
OS	Positive	Positive	NA
Peripheral retinal neovascularization
OD	Negative	Positive	NA
OS	Negative	Positive	NA
Hemangiomatous lesions
OD	Negative	Negative	NA
OS	Negative	Positive	NA
Optical coherence tomography
Choroid thickness (reference range: 274 μm16), μm
OD	415	396	504
OS	307	447	623

Abbreviations: EPOR, erythropoietin receptor; HIF-1α, hypoxia-inducible factor 1a; JAK2, janus kinase 2; NA, not applicable; NIH, National Institutes of Health; OD, right eye; OS, left eye; PGL/PHEO, paraganglioma or pheochromocytoma; PHD1/2, prolyl hydroxylase 1 and 2; RPE, retinal pigment epithelium; SDHB/C/D, succinate dehydrogenase B, C, and D; VHL, von Hippel-Lindau syndrome.

^aSee also Därr et al.²

^bSee also Pacak et al.¹⁷