Patient | Sex/age | Initial symptom, age (y) | Visual acuity | Spherical equivalent | Lens status | Ophthalmoscopy results | ERG | Goldmann perimetry | |||
RE | LE | RE | LE | Scot | Phot | ||||||
A-II:1 | M/38 | Night blindness (8) | 20/40 | 20/50 | −4.38 | −5.25 | Cortical cataracts | Severely attenuated retinal vessels, RPE atrophy with bone spicule and nummular pigmentation in the periphery, preserved posterior pole and absence of optic disc pallor. | NP | NP | NP |
A-II:2 | F/53 | Night blindness (28) | 20/400 | 20/400 | −6.50* | −7.25 | Pseudophakia | Attenuated retinal vessels, severe RPE atrophy BE, with recognisable foveal island, moderate optic disc pallor, bone spicule and nummular pigmentations, white epiretinal changes and old Coats-like exudative vasculopathy inferior quadrants BE. | NR† | NR† | Constricted VF, central residue <5° (age 48 y). |
B-II:1 | M/54 | Night blindness (~45) | 20/60 | 20/20 | −2.00 | −2.13 | Clear | Attenuated vessels, midperipheral bone spicule and nummular pigmentation, waxy pallor of the optic discs, and CMO (RE>LE). | SR | MR | RE: midperipheral ring scotoma, LE: partial midperipheral ring scotoma. VF affected temporal >nasal BE. |
*Prior to cataract surgery.
†ERG performed at the age of 32 years.
BE, both eyes; CMO, cystoid macular oedema; ERG, electroretinography; F, female; LE, left eye; M, male; MR, moderately reduced; NP, not performed; NR, non-recordable; phot, photopic; RE, right eye; scot, scotopic; SR, severely reduced; VF, visual field; y, years.