Table.

Clinical Data From the 2 Probands With CRD and Mutations in the RAB28 Gene

Family	Age at Diagnosis/Last Visit, y	Refractive Error at Last Visit	BCVA^a	Observations
MD-0448; Spanish ancestry	8/17	RE: 0.3 with −8.75 (−1 to 50); LE: 0.2 with −10.25 (−1 to 160)	0.2 (20/100) (stable at 17 y); 0.2 (20/100) (12 y); 0.3 (20/65) (9 y); 0.5 (20/40) (8 y)	Biomicroscopy: normal; funduscopy: bull’s eye maculopathy, peripapillary atrophy, optic pallor, thin vessels, tigroid fundus, no signs of peripheral involvement; color vision (Ishihara test): dyschromatopsia; electroretinogram, photopic response: absent; scotopic response: residual; visual-evoked potentials; pathologic: low amplitude of P100 wave, enlarged latency (implicit time); other: magna myopia, diplopia
MD-0312; Spanish ancestry	12/22	RE: −1 (−1.50 × 35°); LE: −0.50 (−1.25 × 140°)	RE: 0.1 (20/200); LE: 0.3 (20/65) (22 y); RE: 0.3 (20/65); LE: 0.4 (20/80) (21 y); RE: 0.5 (20/40); LE: 0.5 (20/40) (20 y)	Biomicroscopy: normal; funduscopy: loss of foveal reflex, atrophic areas in the macula, optic pallor, no flecks; fluorescein angiography: hyperfluorescent area at central and peripapillary areas, no choroidal silence; color vision (Ishihara test): dyschromatopsia (deuteranopia); visual field (Goldmann perimetry): central scotoma, development of peripheral field involvement; electroretinogram: photopic response absent, scotopic response diminished; visual-evoked potentials; diminished amplitude of P100 wave, enlarged latency (implicit time); other: intense photophobia

Abbreviations: BCVA, best-corrected visual acuity; CRD, cone-rod dystrophy; LE, left eye; NA, not available; RE, right eye.

Best-corrected visual acuity is reported as the Snellen equivalent on a decimal scale (Snellen equivalent).