(The American Journal of Human Genetics 99, 777–784; September 1, 2016)
Main Text
In the original article, Table 1 included multiple editing errors. The corrected table has been included here and online. The authors regret the error.
Table 1.
Clinical Data of Individuals with Bi-allelic CEP78 Mutations
| Individual Number (Age)a | Genotype | Onset of Visual Impairment (Age) | Best Corrected Visual Acuity (Age) | Refraction (Age) |
Full-Field ERG Resultsb,c |
EOG (%)d(Age) |
Hearing Impairment |
|||
|---|---|---|---|---|---|---|---|---|---|---|
| 30 Hz Cone Flicker, AMP/IT (Age) | Mixed Cone-Rod Response (Age) | Rod Response (Age) | Onset (Age) | Frequencies | ||||||
| MOL0679 III:1 (37) | c.893–1G>A / c.893–1G>A | 10 | 0.08 | −3.00 | ND | a = 172, b = 175 | 110 | – | – | – |
| 0.08 (44) | – | ND (44) | a = 50, b = 43 (44) | 47 (44) | 122 (44) | 45 | high | |||
| MOL0679 III:2 (30) | c.893–1G>A / c.893–1G>A | 10 | 0.15 | – | – | – | – | – | – | – |
| LP (47) | −0.25 (47) | ND | ND | ND | NA | 11 | medium and high | |||
| MOL0773 II:1 (29) | c.893–1G>A / c.893–1G>A | 20 | 0.08 | −2.50 | NA | a = 127, b = 287 | 180 | 135 | – | – |
| – | – | 25/42 (33) | a = 91, b = 229 (33) | 75 (33) | – | – | – | |||
| 0.03 (43) | – | 15/43 (43) | a = 65, b = 94 (43) | ND (43) | – | 42 | bilateral flat curve | |||
| HM (48) | −1.25 (48) | ND (48) | ND (48) | ND (48) | 131 (47) | – | – | |||
| MOL1310 II:1 (38) | c.534delT / c.534delT | 35 | 0.4 | −8.25 | NA | NA | NA | NA | 36 | NA |
| TB279 II:1 (47) | c.534delT / c.534delT | 30 | 0.03 | plano | ND | a = 41, b = 31 | 4 | 110 | 20 | medium and high |
| TB365 II:1 (38) | c.893–1G>A / c.534delT | 28 | 0.12 | −2.50 | 20/38 | a = 134, b = 91 | 4 | 98 | 10 | medium and high |
ND, nondetectable; NA, not available. Data represent average between both eyes. Best-corrected visual acuity is given as a decimal ratio; if numbers on ETDRS chart could not be identified even at a distance of 1 meter, residual vision described as hand movements (HM) or light perception (LP). Refraction is given as mean spherical equivalent of both eyes in diopters.
The age at the time of first ERG testing is written in parenthesis in the Individual Number column. When additional clinical tests were performed at other ages, the age of testing is provided in parenthesis in the appropriate column. All ages are in years.
Full-field electroretinography (ERG) results include the following details: light-adapted (LA) cone flicker amplitude (normal 60–144 μV) and implicit time (IT, normal 27–33 ms); dark-adapted (DA) rod response b-wave amplitude (normal range 200–500 μV); dark-adapted mixed cone-rod a- and b-wave amplitudes (normal a-wave 90–350 μV, normal b-wave 380–630 μV).
Tel Aviv Sourasky Medical Center ERG normal ranges (applicable to individuals TB279 II:1 and TB365 II:1): LA cone flicker amplitude (65–190 μV) and implicit time (IT, ms, normal 24–30); DA rod response b-wave amplitude (normal 60–250 μV); Dark-adapted mixed cone-rod a- and b-wave amplitudes (normal a-wave 80–340 μV, normal b-wave 260–600 μV).
Electro-oculography (EOG) results are provided as the Arden ratio (light peak/dark trough) in percent (normal > 185%).
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