Table 2.

Summary of Six Families with LCA

Family	Affected individuals	Unaffected individuals	Clinical features
KKESH2	1	6	At age 5 months, nystagmus was recorded “shortly after birth,” increasing in amplitude. A nonrecordable ERG was observed at age 10 months old. The patient was noted at 2 years old to have very sluggish pupils. No visual responses were elicited.
KKESH72	6	29	The patients show irregular horizontal nystagmus, anterior and posterior cuneiform spoke-like cataracts, and mild cortical haze. Patients’ fundus shows vertically oval discs, waxy orange pallor, 3+/4 vascular attenuation, pigmentary maculopathy with central ellipse of gray silvery atrophy, and coarse granular diffuse RPE peripheral atrophy.
KKESH24	1	4	The patient has nystagmus, hyperopic discs, vascular attenuation, no retinal pigmentation, diffuse RPE atrophy, and nonrecordable ERG.
KKESH28	1	4	The patient shows nystagmus and eye rubbing. The eyes also have trouble in fixation and following movements. The ERG of the patient is nonrecordable.
KKESH88	1	6	The patient shows midfacial hypoplasia, enophthalmos, horizontal and rotary nystagmus, variable LET, and LIO overaction. Furthermore, he has hypermetropic discs with hyperemia, moderate vascular attenuation, and sandy RPE throughout. The ERG is nonrecordable. In addition to eye phenotypes, he also shows psychomotor delay.
KKESH34	4	11	All patients of KKESH34 have poor vision from birth. They all show nystagmus and neuroepithelial atrophy. The ERG of all patients is nonrecordable.

All affected individuals from these KKESH families present with typical LCA phenotypes.

LET, left esotropia; LIO, left inferior oblique.