TABLE 1.
Overview of clinical findings in CEP78-associated CRDHL.
| Age/sex | Origin | Age at onset | BCVA (RE/LE) | Goldmann visual fields | Fundus imaging | BAF | OCT | ERG | Hearing impairment | Other findings reported | |
| F1 II:1 | 45 y/F | Belgian | 22 y | 0.1/0.1 | Small central island of less than 5°, surrounded by large absolute (mid)peripheral scotoma (100° horizontal, 70° vertical) and normal peripheral limits | Normal optic disk, normal veins, narrowing of the arteries, perimacular grayish mottling around the vascular arcades and midperiphery, absence of bone spiculae | Mottled hypofluo rescence around the large vascular arcades, perifoveal hyperfluo rescent ring | Loss of outer retinal layers with sparing of subfoveal region with foveal swelling and blending | Maximum tendency toward electronegativity, scotopic function flat, cone function: both 30-Hz flicker and single flash present but delayed and reduced | Present since the age of 12 y, hearing aids | No fertility problems, balance disorder |
| F2 II:1 | 52 y/F | Danish | 30 y | 0.25/0.2 (49 y) | Paracentral scotomas, normal outer borders (49 y) | Normal optic disk, attenuated vessels, absence of hyperpigme ntations (49 y) | Mottled appearance midperiphery (49 y) | Attenuation of outer retinal layers (49 y) | Reduced cone and rod responses (39 y) | Congenital progressive hearing loss, hearing aids | None |
| F3 II:1 | 25 y/F | Belgian | 24 y | 0.3/0.2 | Pericentral concentric scotoma | Discrete macular mottling | Unremarkable | Wide foveal depression | Lowered cone and rod responses, but worse for cones | High frequencies | Subtle mottling in central macula on infrared |
| F4 II:1 | 57 y/M | Turkish | NA | 0.08/0.08 | Small central island less than 5°, currently stable | Pale optic disk, narrow blood vessels, grayish discoloration, some bone spiculae in midperiphery | Mottled hypoautoflu orescence around the large vascular arcades and nasally, perifoveal hyperflu orescent ring | Attenuation of outer retina | Extinguished responses of cones and rods | Present since childhood, not progressive | None |
BAF, blue-light autofluorescence imaging; BCVA, best-corrected visual acuity; CF, counting fingers; ERG, full-field flash electroretinography; F, female; HM, hand movements; M, male; NA, not available; OCT, spectral-domain optical coherence tomography; RE, right eye; LE, left eye.