T14484C-F128

**Figure 1\. Pedigree diagram for family T14484C\-F128\.**

![](/media/202606/20260630180342051854.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14484 | m.14484T\>C | T14484C\-F128 | Australia | Leber hereditary optic neuropathy | 0 | 1 | 2016 | [27741086](https://pubmed.ncbi.nlm.nih.gov/27741086/) |  |

The **m.14484T\>C** variant in MT\-ND6 was reported in family T14484C\-F128 from Australia with leber hereditary optic neuropathy. The pedigree record reported 0 unaffected and 1 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was lhon with acute bilateral central vision loss, type 1 diabetes, recovery to od 20, 40\+ os 20, 50\+ by 16 months, lhon with sudden severe permanent vision loss, no significant recovery, va 20 years post\-neuropathy od 20\.

# Carrier Information

| **No.** | **Position** | **Variant** | **Family ID** | **Carrier ID** | **Type (Fam/De novo/Uninf)** | **Gender (F/M)** | **Proband (Y/N)** | **Affected (Y/N)** | **Die/Alive(D/A)** | **Age** | **Blood Mutant Level** | **Muscle Mutant level** | **Urine Mutant level** | **Other Mutant level** | **Clinical Features** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14484 | m.14484T\>C | T14484C\-F128 | T14484C\-F128\-III1 | Fam | M | Y | Y | A | 16 | / | / | / | Positive (ND) | LHON with acute bilateral central vision loss; Type 1 diabetes; recovery to OD 20/40\+ OS 20/50\+ by 16 months |  |
| 2 | 14484 | m.14484T\>C | T14484C\-F128 | T14484C\-F128\-II1 | Fam | M | N | Y | A | 20 y onset | / | / | / | Pedigree mt14484: affected; load NR | LHON with sudden severe permanent vision loss; no significant recovery; VA 20 years post\-neuropathy OD 20/400 OS 20/100 |  |

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