Table 1. Clinical features of Benign Yellow Dot Maculopathy Subjects.
| Subject no, Family no (GC number) | Proband? | Presenting age (years) | Gender | Mode of Presentation | Family history | BCVA LogMAR RE, LE (Age, years) | Past Ocular History |
|---|---|---|---|---|---|---|---|
|
| |||||||
| 1, 1 | Proband | 5 | F | Community | Dominant | 0, 0 (5) | Nil |
| 2, 1 | Mother | 28 | F | FH | Dominant | 0, -0.08 (28) | Nil |
| 3, 1 | Maternal G.mother | 50 | F | FH | Dominant | -0.08, -0.08 (50) | Nil |
| 4, 2 | Proband | 14 | M | Community | Dominant | -0.08, 0 (14) | Hypermet, ET, strab surgery |
| 5, 2 | Mother | 43 | F | FH | Dominant | 0.18, 0.18 (43) | Refractive error |
| 6, 3 | Proband | 45 | F | Community | Dominant | -0.08, -0.08 (45) | Nil |
| 7, 3 | Son | 6 | M | FH | Dominant | -0.08, -0.08 (6) | Nil |
| 8, 4 (GC14302) | Proband | 15 | F | Community | Dominant | 0.78, 0.78 (15) | Non organic visual loss |
| 9, 4 (GC14302) | Sister | 18 | F | Community | Dominant | 0, 0, (18) | Nil |
| 10, 4 (GC14302) | Mother | 45 | F | FH | Dominant | 0.18, 0.18 (45) | Refractive error |
| 11, 4 (GC14302) | Maternal 1st cousin | 10 | M | FH | Dominant | -0.08, -0.08 (10) | Nil |
| 12, 5 (GC16206) | Proband | 22 | F | Community | Dominant | -0.08, -0.08 (22) | Refractive error |
| 13, 5 (GC16206) | Mother | Unr | F | FH | Dominant | 0, 0, (Unr) | Nil |
| 14, 6 | Proband | 7 | F | Community | Dominant | 0, 0 (7) | Nil |
| 15, 6 | Father | Unr | M | FH | Dominant | Unr, Unr (Unr) | Nil |
| 16, 6 | Paternal G.mother | 59 | F | FH | Dominant | Unr, Unr (Unr) | Nil |
| 17, 7 | Proband | 11 | F | Community | Dominant | 0, 0 (11) | Refractive error |
| 18, 7 | Father | Unr | M | FH | Dominant | Unr, Unr (Unr) | Nil |
| 19, 8 | Proband | 7 | F | Community | Dominant | 0, 0 (7) | Refractive error |
| 20, 8 | Mother | 45 | F | FH | Dominant | 0, 0 (45) | Nil |
| 21, 8 | Brother | 13 | M | FH | Dominant | 0, 0 (13) | Nil |
| 22, 9 | Proband | 8 | F | Community | Sporadic | 0, 0 (8) | Nil |
| 23, 10 (GC17650) | Proband | 6 | M | Another Ophthalmologist | Sporadic | 0.7, 0.8 (6) | Hypermet, ET, bilat Ametropic amblyopia |
| 24, 11 (GC19048) | Proband | 10 | F | Community | Sporadic | 0, 0 (10) | Refractive error |
| 25, 12 (GC19084) | Proband | 5 | F | Community | Sporadic | 0, 0 (10) | Bilateral optic neuropathy |
| 26, 13 | Proband | 10 | F | Community | Sporadic | 0, 0 (10) | Nil |
| 27, 14 | Proband | 12 | F | Community | Sporadic | 0.4, 0 (14) | Hypermet, Anisometropic amblyopia |
| 28, 15 | Proband | 14 | M | Community | Sporadic | 0.08, 0.14 (14) | Hypermet, Ametropic amblyopia |
| 29, 16 (GC17091) | Proband | 15 | F | Community | Sporadic | 0, 0 (15) | Refractive error |
| 30, 17 | Proband | 15 | M | Community | Sporadic | 0, 0 (15) | Nil |
| 31, 18 (GC18107) | Proband | 28 | M | Community | Sporadic | 0, 0 (29) | Nil |
| 32, 19 | Proband | 28 | F | Community | Sporadic | -0.08, -0.08 (29) | Refractive error |
| 33, 20 | Proband | 29 | F | Community | Sporadic | 0, 0 (29) | Refractive error |
| 34, 21 | Proband | 8 | F | Community | Sporadic | 0, 0 (8) | Refractive error |
| 35, 22 | Proband | 16 | F | Community | Sporadic | 0, 0 (16) | Nil |
| 36, 23 | Proband | 5.5 | F | Community | Sporadic | 0, 0 (5.5) | Refractive error |
Key: GC number – Genetics Clinic number (Subjects recruited from Moorfields Eye Hospital, UK); BCVA – Best Corrected Visual Acuity; RE – Right Eye; LE – Left Eye; F – Female; FH – Family History; G.mother – Grandmother; M – Male; Hypermet – Hypermetropia; ET – Esotropia; Strab – Strabismus; Unr – Unrecorded; Bilat – Bilateral