Table 1.
Clinical features of patients from 21 unrelated families with isolated or complex NNO or MCOP.
| FA# | PT# | Extended ID | Sex | Ethnicity/Consanguinity | Age (year) | Group | Gene | BCVA, logMAR (Snellen) | Posterior segment features | AL (mm) | Posterior coat thickness (mm) | Refraction (diopter) | ERG | Diagnosis | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R | L | Crow-ded discs | Papillo-macular fold | Macular edema | White dots | Perip-heral pigment | R | L | R | L | |||||||||||
| F1 | P1 | B03271 | F | Belgian/Consanguineous | 23 | Ghent | MFRP | 0.6 | 0.3 | + | + | + | + | + | 16.1 | 15.7 | NA | NA |
R + 14,00 /−0,50 × 13 L + 15,50 /−0,25 × 117 |
SN | NNO/RP |
| F2 | P2 | B14785 | M | Moroccan/Consanguineous | 3 | Ghent | MFRP | 0.4 | 0.5 | + | + | - | + | - | 14.5 | 14.4 | NA | NA |
R+12.00 / + 1.00 × 180 L + 12.00/ + 1.00 × 180 |
SN | MCOP |
| F3 | P3 | GC19623 | F | Indian/NA | 29 | London | MFRP | 0.5 | 0.5 | + | - | + | - | - | 13.3 | 12.8 | 2.1 | 2.1 |
R + 15.25/−0.25 × 175 L + 15.25/−0.50 × 155 |
NL | MCOP |
| F4 | P4 | GC19691 | F | British Caucasian/NA | 15 | London | MFRP | 0.2 | 0.3 | + | + | - | + | + | 15.5 | 15.5 | 2.1 | 2.1 |
R + 16.00/−0.5 × 50 L + 16.00/−0.5 × 100 |
SN | MCOP |
| F5 | P5 | B09352 | F | Dagestanian/Consanguineous | 68 | Ghent | MFRP | 0.3 | 0.1 | + | - | + | + | + | 16.5 | 16.5 | NA | NA |
R + 8,50 /−1,00 × 106 L + 8,75 /−0,75 × 113 |
NR | NNO/RP |
| F6 | P6 | GC18886 | M | Kurdish/NA | 31 | London | MFRP | 0.8 | 0.6 | + | - | + | - | + | 16.5 | 16.3 | 1.7 | 1.9 |
R + 17.5/−0.50 × 95 L + 16.00/−0.50 × 90 |
NA | MCOP/RP |
| F7 | P7 | GC20271 | F | Iranian/NA | 51 | London | MFRP | 0.6 | 1.3 | + | - | + | - | + | NA | NA | NA | NA |
R + 15.0/−1.00 × 100 L + 15.5/−0.75 × 110 |
SN | MCOP/RP |
| F8 | P8 | B10315 | M | Italian/NA | 26 | Ghent | MFRP | LP | LP | + | - | + | + | - | 15.7 | 15.7 | NA | NA |
R +15.25/−0.25 × 175 L + 15.25/−0.50 × 155 |
SN | NNO/RP |
| F9 | P9 | B16796 | F | Belgian/NA | 75 | Ghent | MFRP | 0.1 | 0.1 | + | - | + | + | + | NA | NA | NA | NA |
R+17,00/ 0,75 × 15 L + 15,00/ −0,75 × 170 |
SN | MCOP |
| F10 | P10 | B08047 | M | Moroccan/Consanguineous | 8 | Ghent | MFRP | 0.25 | 0.25 | + | - | NA | NA | NA | NA | NA | NA | NA |
R + 13.75 L+13.25 |
NA | NNO |
| F11 | P11 | GC20258 | F | British Caucasian/NA | 18 | London | PRSS56 | 0.6 | 0.3 | + | - | - | + | - | 15.7 | 15.8 | 2.3 | 2.1 | R + 15.00/−0.5 × 180 L + 13.50/−0.75 × 180 | NL | MCOP |
| F12 | P12 | GC18588 | M | Pakistani/NA | 37 | London | PRSS56 | 0.5 | 0.6 | + | + | + | + | - | 15.4 | 15.4 | 1.9 | 1.9 |
R + 2/−1.25 × 180 L + 4.5/−1.5 × 180 |
SN | MCOP |
| F13 | P13 | GC16899 | M | Somalian/NA | 20 | London | PRSS56 | 0.6 | 0.6 | + | + | + | + | - | 16.5 | 16.4 | 1.9 | 2.1 |
R + 15.00/−0.75 × 110 L + 15.50/−0.50 × 75 |
SN | MCOP |
| F14 | P14 | GC19721 | M | Pakistani/NA | 23 | London | PRSS56 | 0.8 | 0.8 | + | + | - | + | - | 15.9 | 15.7 | 2.1 | 2.1 |
R + 9.50/−1.00 × 20 L + 11.00/−1.00 × 40 |
SN | MCOP |
| F15 | P15 | RXK-4624916 | F | Pakistani/Consanguineous | 44 | Birmin-gham | PRSS56 | NA | NA | + | + | - | - | + | 17 | 17 | 2.4 | 2.4 |
R + 15.00 L + 15.50 |
NA | MCOP/RP |
| P16 | RXK-3297132 | M | Pakistani/Consanguineous | 13 | Birmin-gham | PRSS56 | 0.2 | 0.1 | + | + | - | + | + | 15.2 | 15.6 | NA | NA |
R + 14.00 L + 14.50 |
NL | MCOP/RP | |
| P17 | RXK-33447157 | F | Pakistani/Consanguineous | 8 | Birmin-gham | PRSS56 | 0.6 | 0.6 | + | - | - | + | - | 14.0 | 14.2 | NA | NA |
R + 16.00 L + 18.50/−1.00 × 10 |
SN | MCOP | |
| P18 | RXK-3113374 | F | Pakistani/Consanguineous | 12 | Birmin-gham | PRSS56 | 0.5 | 0.5 | + | + | - | - | - | 14.8 | 14.6 | NA | NA |
R + 15.50/−1.50 × 30 L + 14.50/−1.00 × 8 |
SN | MCOP | |
| P19 | RXK-4633376 | F | Pakistani/Consanguineous | 17 | Birmin-gham | PRSS56 | 0.5 | 0.5 | + | - | - | - | - | 14.5 | 14.5 | NA | NA |
R + 16.00/−1.00 × 180 L + 15.00/−1.00 × 180 |
NL | MCOP | |
| F16 | P20 | RXK-4941281 | M | Mirpuri/Consanguineous | 7 | Birmin-gham | PRSS56 | 0.5 | 0.1 | + | + | - | - | - | 16.0 | 16.2 | 2.4 | 2.4 |
R + 16.25/−1.00 × 180 L + 17.25/−1.75 × 180 |
NA | MCOP |
| F17 | P21 | RXK-4985235 | F | Mirpuri/Consanguineous | 10 | Birmin-gham | PRSS56 | 0.5 | 0.5 | + | + | - | - | - | 15.0 | 15.1 | 2.8 | 2.7 |
R + 19.50 L + 19.50 |
NA | MCOP |
| F18 | P22 | B05802 | M | Turkish/Consanguineous | 4 | Ghent | PRSS56 | 0.3 | 0.3 | + | + | + | - | - | 15.3 | 15.1 | NA | NA |
R + 14,25/ −0,50 × 4 L + 15,00 /−0,50 × 174 |
NL | MCOP |
| F19 | P23 | B01921 | M | Bulgarian/NA | 26 | Ghent | PRSS56 | 0.4 | 0.5 | + | + | + | - | - | 14.8 | 14.6 | NA | NA |
R + 15.25/−0.25 × 175 L + 15.25/−0.50 × 155 |
SN | NNO |
| F20 | P24 | B03421 | M | Belgian/NA | 7 | Ghent | / | 0.3 | 0.4 | + | + | + | - | - | 14.5 | 14.5 | NA | NA |
R + 14,25 /−1.00 × 13 L + 15,25 /−1.75 × 173 |
NL | MCOP |
| F21 | P25 | B07457 | M | Belgian/NA | 8 | Ghent | / | 0.2 | 0.2 | + | + | NA | NA | NA | NA | NA | NA | NA |
R NA L NA |
NA | NNO |
Abbreviations used: FA#: family number; PT#: patient number; NR: not-reported; AL: axial length; BCVA: best-corrected visual acuity; ERG: electroretinogram; F: female; L: left eye; M: male; mm: millimeters; NA: not available; NL: normal limit; NR: non-recordable; R: right eye; SN: subnormal; “/”: no mutation identified; + : presence; −: absence; MCOP: isolated posterior microphthalmia; MCOP/RP: posterior microphthalmia with RP; NNO: isolated nanophthalmos; NNO/RP: nanophthalmos with RP; retinitis pigmentosa: RP.