Table 1.

Ophthalmic Findings in 10 ALPS Patients Referred for Ocular or Visual Complaints

No.	Gender	Age (years)	ALPS Diagnosis	Finding(s) on Ophthalmologic Examination
1	F	4	ALPS-FAS	Panuveitis (bilateral)1
2	M	21	ALPS-U	Posterior uveitis with choroidal infiltrates (bilateral)1
3	M	36	ALPS-FAS	Severe diabetic retinopathy treated with panretinal photocoagulation (type 1 diabetes mellitus)
4	F	48	ALPS-FAS	Inactive chorioretinal scar, mild optic nerve pallor (secondary to prior episode of optic neuritis)1
5	F	19	ALPS-FAS	Megalopapillae2
6	M	15	ALPS-FAS	Strabismus
7	F	66	ALPS-FAS	Bilateral lacrimal gland and extraocular muscle enlargement
8	M	16	ALPS-FAS	Anterior-intermediate uveitis (bilateral)1
9	M	23	ALPS-FASLG	Trichiasis, peripheral corneal scar
10	M	24	ALPS-FAS	Megalopapillae2

¹Evidence of past or currently active intraocular inflammation

²No evidence of ocular hypertension or glaucomatous changes, likely congenital

Abbreviation: ALPS, autoimmune lymphoproliferative syndrome; FASLG, FAS ligand; U, undetermined Of 29 ALPS patients referred to the National Eye Institute for ocular or visual symptoms or for history of prolonged corticosteroid use, 10 patients had findings on ophthalmologic examination. These findings were varied, and a few patients had multiple findings on examination. Three patients had active intraocular inflammation in both eyes. One patient had remote history of optic neuritis and vitreous hemorrhage secondary to immune-mediated thrombocytopenia with an inactive chorioretinal scar.