Patients with IRE mutation
No. . | Age, y/sex . | Mutation . | Serum ferritin, μg/L* . | Onset of visual symptoms . | Family history of cataract . | Clinical observations . |
|---|---|---|---|---|---|---|
| 1 | 35/F | Del A38C39 | 1845 | Posterior, capsular cataract; operated left eye at 8 y | No family history; de novo deletion? | Liver biopsy: no iron |
| 2 | 40/F | Del T42-G57 | 1220 | Left eye cataract diagnosed at age 30 y | De novo deletion? Son with cataract | |
| 3 | 47/F | 32G>T | 2000 | Childhood; operated at age 40 y | Three generations with cataract | Erythrocyte ferritin × 10; 35% Tf saturation; liver biopsy: no iron; microcytic anemia after 2 phlebotomies (2 × 350 mL) |
| 4 | 30/F | 32G>T | Bilateral cataract | Father with cataract | ||
| 5 | 33/F | 32G>T | 1435 | Cataract over 4 generations | SI, 9.5 μM | |
| 6 | 32/M | 32G>T | 2000-3000 | Microcytic anemia after 3 phlebotomies | ||
| 7 | 51/M | 32G>T | 2400 | Bilateral cataract | Family history | |
| 8 | 8/F | 32G>A | 1400 | Operated at age 8 y | Mother with cataract | |
| 9 | 24/F | 32G>A | 1500 | Bilateral cataract; operated at age 23 y | Two children with cataract | Liver biopsy: no iron |
| 10 | 33/F | 32G>C | 1200 | Bilateral cataract | De novo mutation; child with cataract at age 6 y | |
| 11 | 18/F | 33C>T | Bilateral cataract; operated at age 40 y | Father operated | ||
| 12 | 2/M | 33C>T | 1400 | No family history; de novo mutation? | 9% Tf saturation | |
| 13 | 52/F | 33C>T | 1500 | Bilateral cataract | Cataract over 3 generations | |
| 14 | 52/F | 33C>A | 1000 | Operated at age 30 y | ||
| 15 | 38/F | 34T>C | 1000 | Cortical lens opacifications | Mother and aunt with cataract | Liver biopsy: no iron |
| 16 | 45/F | 36C>A | 1660 | Operated at 7 y | Liver MRI: no iron; SI, 9.9 μM | |
| 17 | 63/F | 39C>T | 2800 | 9 y; operated at age 57 y | Father and brother with cataract | |
| 18 | 35/F | 39C>T | > 800 | Asymptomatic cataract; slow evolution | Liver biopsy: no iron; SI, 18 μM | |
| 19 | 81/F | 39C>T | 1800 | Late diagnostic; bilateral cataract | No family history | |
| 20 | 53/M | 40A>G | 1000-5000 | Childhood | Three children with operated bilateral cataract | |
| 21 | 34/F | 40A>G | ||||
| 22 | 38/M | 40A>G | 1550 | |||
| 23 | 43/F | 40A>G | 1298 | Bilateral cataract | Cataract over 3 generations | |
| 24 | 43/F | 47G>A | 2140 | Bilateral cataract diagnosed at age 12 y | Father and brother with cataract |
No. . | Age, y/sex . | Mutation . | Serum ferritin, μg/L* . | Onset of visual symptoms . | Family history of cataract . | Clinical observations . |
|---|---|---|---|---|---|---|
| 1 | 35/F | Del A38C39 | 1845 | Posterior, capsular cataract; operated left eye at 8 y | No family history; de novo deletion? | Liver biopsy: no iron |
| 2 | 40/F | Del T42-G57 | 1220 | Left eye cataract diagnosed at age 30 y | De novo deletion? Son with cataract | |
| 3 | 47/F | 32G>T | 2000 | Childhood; operated at age 40 y | Three generations with cataract | Erythrocyte ferritin × 10; 35% Tf saturation; liver biopsy: no iron; microcytic anemia after 2 phlebotomies (2 × 350 mL) |
| 4 | 30/F | 32G>T | Bilateral cataract | Father with cataract | ||
| 5 | 33/F | 32G>T | 1435 | Cataract over 4 generations | SI, 9.5 μM | |
| 6 | 32/M | 32G>T | 2000-3000 | Microcytic anemia after 3 phlebotomies | ||
| 7 | 51/M | 32G>T | 2400 | Bilateral cataract | Family history | |
| 8 | 8/F | 32G>A | 1400 | Operated at age 8 y | Mother with cataract | |
| 9 | 24/F | 32G>A | 1500 | Bilateral cataract; operated at age 23 y | Two children with cataract | Liver biopsy: no iron |
| 10 | 33/F | 32G>C | 1200 | Bilateral cataract | De novo mutation; child with cataract at age 6 y | |
| 11 | 18/F | 33C>T | Bilateral cataract; operated at age 40 y | Father operated | ||
| 12 | 2/M | 33C>T | 1400 | No family history; de novo mutation? | 9% Tf saturation | |
| 13 | 52/F | 33C>T | 1500 | Bilateral cataract | Cataract over 3 generations | |
| 14 | 52/F | 33C>A | 1000 | Operated at age 30 y | ||
| 15 | 38/F | 34T>C | 1000 | Cortical lens opacifications | Mother and aunt with cataract | Liver biopsy: no iron |
| 16 | 45/F | 36C>A | 1660 | Operated at 7 y | Liver MRI: no iron; SI, 9.9 μM | |
| 17 | 63/F | 39C>T | 2800 | 9 y; operated at age 57 y | Father and brother with cataract | |
| 18 | 35/F | 39C>T | > 800 | Asymptomatic cataract; slow evolution | Liver biopsy: no iron; SI, 18 μM | |
| 19 | 81/F | 39C>T | 1800 | Late diagnostic; bilateral cataract | No family history | |
| 20 | 53/M | 40A>G | 1000-5000 | Childhood | Three children with operated bilateral cataract | |
| 21 | 34/F | 40A>G | ||||
| 22 | 38/M | 40A>G | 1550 | |||
| 23 | 43/F | 40A>G | 1298 | Bilateral cataract | Cataract over 3 generations | |
| 24 | 43/F | 47G>A | 2140 | Bilateral cataract diagnosed at age 12 y | Father and brother with cataract |
Tf indicates total ferritin; MRI, magnetic resonance imaging.
Normal values for serum ferritin are 50-350 μg/L and for serum iron (SI) are 8-24 μM.