SUMMARY OF PATIENTS
| ID | FAMILY | AGE | SEX | BCVA | REFRACTION | GOLDMANN VISUAL FIELD | ERG BOTH EYES | LID/EOM SURGERY | COMMENTS |
|---|---|---|---|---|---|---|---|---|---|
| 1 | BD (2) | 5 | M | 20/40 20/40 |
+3.50+0.50×090 +3.50+0.50×090 |
--- --- |
--- | no | --- |
| 2 | BD | 8 | F | 20/60 20/60 |
−4.50+2.00×060 +3.00+1.50×180 |
--- --- |
--- | no | --- |
| 3 | BD | 5 | F | HM 20/70 |
+1.00+1.50×020 −1.50+0.75×120 |
--- --- |
--- | no | --- |
| 4 | BD | 8 | M | 20/125 LP |
−1.25+0.50×100 +0.50+1.00×150 |
--- --- |
--- | no | --- |
| 5 | BB (4) | 20 | M | 20/50 HM |
−3.00 −8.00 |
nasal step --- |
delayed & depressed rod & cone |
yes | developing keratoconus |
| 6 | BB (5) | 13 | M | 20/30 20/50 |
+1.00+1.00×090 plano+2.00×090 |
--- --- |
delayed & depressed rod & cone |
yes | --- |
| 7 | BB (6) | 7 | M | 20/50 20/70 |
plano+1.50×180 +0.75+1.50×180 |
--- --- |
delayed & depressed rod & cone |
yes | --- |
| 8 | BB (7) | 5 | M | HM 20/60 |
+2.25 +1.50 |
--- --- |
delayed & depressed rod & cone |
yes | resolved childhood seizures; nystagmus right eye |
| 9 | BB (9) | 14 | M | 20/50 HM |
plano plano |
slight constriction inferotemporal island | delayed & depressed rod |
yes | --- |
| 10 | BB (10) | 6 | M | 20/200 20/30 |
+2.50+2.00×080 +1.50+1.00×040 |
--- | --- | yes | --- |
| 11 | BB (11) | 33 | M | HM 20/50 |
plano plano |
--- nasal step (HVF) |
delayed & depressed rod & cone |
yes | MRI suggests small optic nerves |
| 12 | BB (12) | 11 | F | LP 20/40 |
−7.00 −0.50+1.50×105 |
--- --- |
--- | no | --- |
| 13 | BB | 26 | M | CF CF |
−17.00 −17.00 |
--- --- |
delayed & depressed rod & cone |
no | --- |
| 14 | BB | 62 | M | 20/160 20/80 |
−4.50+5.00×095 −17.50+3.00×180 |
--- --- |
delayed & depressed rod & cone |
yes | high myope (30mm axial length); intraocular lens right eye |
| 15 | BB | 11 | M | 20/60 20/100 |
−5.50+1.00×175 −4.50+4.50×170 |
--- --- |
delayed & depressed rod |
no | query retinal arteriolar attenuation and abnormal macular reflex |
| 16 | Z (13) | 21 | F | CF 20/50 |
−8.50+1.50×105 −2.00−1.50×170 |
superior arcuate island slight constriction |
--- | no | hypoplastic right optic nerve; question of frontal atrophy by CT |
| 17 | Z (14) | 7 | M | 20/100 20/80 |
+4.00+2.50×090 +1.50+3.00×125 |
slight constriction superonasal arcuate defect |
delayed & depressed rod & cone |
yes | idiopathic scleritis left eye |
| 18 | AL | 9 | F | LP 20/80 |
+6.50 +4.50 |
--- --- |
--- | yes | --- |
BCVA: best-corrected visual acuity; ERG: electroretinography; EOM: extraocular muscle; M: male; F: female; HM: hand motion; CF: count fingers; LP: light perception; HVF: Humphrey visual field rather than Goldmann; MRI: magnetic resonance imaging scan; CT: computed tomography scan; “---”: not available
“rod” refers to testing under scotopic conditions; “cone” refers to testing under photopic conditions
Where relevant, for a given patient top line refers to right eye and bottom line refers to left eye
For FAMILY column, number in parenthesis refers to patient identification in reference 3