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Clinical phenotypes of affected individuals with homozygous TLCD3B mutations.
| Affected Individual | Age at Diagnosis | Diagnosis | TLCD3B Variant | Visual Acuity (Right) | Visual Acuity (Left) | Central Vision Loss | Additional Notes |
|---|---|---|---|---|---|---|---|
| A.II.1 | 16 | Maculopathy | c.166G>A p.Gly56Ser | 5/200 | 5/100 | + | Photophobia |
| A.II.2 | 8 | Maculopathy | c.166G>A p.Gly56Ser | 5/100 | 5/100 | + | Photophobia |
| B.II.1 | 24 | CRD | c.166G>A p.Gly56Ser | 5/60 | 5/60 | + | Photophobia |
| C.IV.3 | 45 | CRD | c.234delG p.Gln79Asnfs*43 | 2/60 | 2/60 | + | Ishihara Nil, Photophobia |
