Table 1 Molecular diagnosis, clinical and biochemical findings in a cohort of 18 patients with gyrate atrophy
From: Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy
Patient No | Gender | Age Range at Last Ophthalmic Examination (years) | Visual Acuity (LogMAR) | Presenting Ophthalmic Symptom(s) (Age at Diagnosis [years]) | Presence of Macular Oedema (Y/N) | Presence of Cataracts (Y/N) | Plasma Ornithine Levels at Diagnosis (μmol/L) [NR: 40–150 µmol/L] | Average Plasma Ornithine in Last 5 Years (μmol/L) | Average Plasma Lysine in Last 5 Years (μmol/L) [NR: 100–160 μmol/L] | Genetic Diagnosis, Pathogenic/Likely Pathogenic Variant | |
|---|---|---|---|---|---|---|---|---|---|---|---|
Right eye | Left eye | ||||||||||
1 | M | 31–35 | 0.4 | 1.0 | Increasing myopia (14) | Y | Y | 1120 | 1067 | 87 | c.520 + 1G > A (homozygous) |
2 | M | 21–25 | 0.68 | 0.54 | Increasing myopia (9) | Y | Y | 1018 | 1342 | 73 | c.520 + 1G > A (homozygous) |
3 | F | 26–30 | 0.22 | 0.24 | Increasing myopia (11) | N | Y | 1007 | 863 | 72 | c.520 + 1G > A (homozygous) |
4 | M | 15–20 | 0.32 | 0.44 | Asymptomatic (2) | Y | N | 458 | 868 | 84 | p.(Arg398Ter) (homozygous) |
5 | F | 26–30 | 0.42 | 0.3 | Asymptomatic (5) | Y | Y | 695 | 564 | 87 | p.(Arg398Ter) (homozygous) |
6 | F | 21–25 | 0.34 | 0.34 | Increasing myopia (6) | N | Y | 1244 | N/A | N/A | p.(Arg398Ter) (homozygous) |
7 | F | 5–14 | 0.1 | 0.1 | Increasing myopia (8) | N | N | 576 | 528 | 150 | p.(Pro241Leu) (homozygous) |
8 | M | 5–14 | 0.38 | 0.3 | Asymptomatic (4) | N | N | 754 | 597 | 130 | p.(Pro241Leu) (homozygous) |
9 | F | 21–25 | 0.5 | 0.64 | Nyctalopia, Reduced peripheral vision (8) | Y | N | 775 | 640 | 106 | p.(Pro241Leu) (homozygous) |
10 | F | 31–35 | 0.94 | 0.9 | Increasing myopia, Nyctalopia, Reduced peripheral vision (7) | N | Y | 826 | 572 | 76 | p.(Pro241Leu) (homozygous) |
11 | F | 26–30 | 0.5 | 0.6 | Increasing myopia, Nyctalopia, Cataracts (26) | Y | Y | 800 | 718 | 204 | p.(Pro241Leu) (homozygous) |
12 | F | 26–30 | 0.3 | 0.4 | Increasing myopia, Nyctalopia (14) | N | Y | 734 | 641 | 103 | p.(Gly51Asp) (homozygous) |
13 | M | 21–25 | 0.16 | 0.3 | Asymptomatic (0.83) | N | Y | 458 | 392 | 169 | p.(Arg398Ter) (homozygous) |
14 | M | 0–4 | 0.0 | 0.0 | Asymptomatic (1) | N | N | 1232 | 879 | 195 | p.(Pro241Leu); (heterozygous) p.(Gly353Asp) (heterozygous) |
15 | F | 21–25 | 0.22 | 0.4 | Increasing myopia (14) | N | Y | 742 | 716 | 108 | p.(Arg250Ter); (heterozygous) p.(Ile314Ser) (heterozygous) |
16 | F | 41–45 | 0.0 | -0.1 | Increasing myopia, Nyctalopia, Cataracts (33) | N | Y | 917 | N/A | N/A | p.(Tyr209Ter); (heterozygous) p.(Pro417Leu) (heterozygous) |
17 | M | 15–20 | 0.22 | 0.5 | Increasing myopia, Floaters (14) | N | N | N/A | 458 | 247 | p.(Leu403Pro); (heterozygous) (Leu337ArgfsTer2) (heterozygous) |
18 | M | 26–30 | 0.48 | 0.6 | Asymptomatic (5) | N | Y | 920 | N/A | N/A | p.(Pro300LeufsTer13) (homozygous) |