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초록
Purpose:
To investigate the clinical characteristics of first-degree relatives with primary open-angle glaucoma (POAG).
Methods:
Forty-four POAG patients (22 pairs of eyes from 2 first-degree relatives) were followed for an average of 3.3 years. Baseline characteristics and follow-up data were analyzed. Baseline data consisted of baseline intraocular pressure (IOP), central corneal thickness (CCT), spherical equivalent, visual field mean deviation (VF MD) and average retinal nerve fiber layer (RNFL) thickness measured using optical coherence tomography (OCT). Follow-up data consisted of mean follow-up IOP, mean IOP reduction from baseline (%) and progression rates determined by linear regression analysis of either VF MD value or OCT RNFL thickness. Mean data of both eyes and the worse eye were compared between first-degree relatives of the same family.
Results:
Among the 22 families, 16 pairs of eyes were from parent/offspring and 6 from siblings. No difference in mean baseline IOP and CCT were found between first-degree relatives. The older patients in parent-offspring families showed significantly more advanced glaucoma in terms of both VF and RNFL thickness, but were less myopic; however, no differences in variables were found between relatives in the 6 families composed of siblings. Among the 22 families, worse baseline VF MD was observed in younger patients compared with the older patients in 4 families. Mean follow-up IOP, mean IOP reduction from baseline, and progression rate did not differ between the older and the younger patient in each family.
Conclusions:
In our study, similar characteristics in terms of baseline IOP, IOP response to medication, and glaucoma progression rate were found in members of the same family. However, in some of the families, the younger patient had poorer baseline severity and more aggressive characteristics compared with the older patient, suggesting the clinical course of the disease may vary among first-degree relatives.
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Figure 1.
A 54-year-old man showed a mild RNFL defect in the supeotemporal and inferotemporal area of the right eye and the superotemporal area of the left eye (A), and an early VF defect in his right eye, with no definite VF change in the left eye (B). In contrast, his 24-year-old daughter showed more severe RNFL defects (C), and advanced VF defects in both eyes (D). RNFL = retinal nerve fiber layer; VF = visual field.
Figure 2.
A 30-year-old woman who did not show progression in her optic disc/RNFL/VF exams during follow-up period (baseline (A) and 3 years later (B)); however, her younger brother showed significant progression in the right eye during the same follow-up period (baseline (C) and 3 years later (D)). RNFL = retinal nerve fiber layer; VF = visual field.
Table 1.
Comparison of baseline characteristics between older and younger patients within the same family
| Older patient (n = 22) | Younger patient (n = 22) | p-value* | |
|---|---|---|---|
| Age (years) | 62.4 ± 12.7 | 40.9 ± 14.2 | 0.003 |
| SE (mean of both eyes, diopter) | -1.09 ± 2.36 | -4.03 ± 3.50 | 0.008 |
| SE (worse eye, diopter) | -1.38 ± 2.56 | -4.21 ± 3.57 | 0.014 |
| Baseline IOP (mean of both eyes, mm Hg) | 19.7 ± 7.5 | 17.7 ± 3.7 | 0.246 |
| Baseline IOP (worse eye, mm Hg) | 21.4 ± 10.3 | 18.8 ± 6.6 | 0.328 |
| Baseline CCT (mean of both eyes, micron) | 528.6 ± 34.8 | 546.9 ± 31.7 | 0.167 |
| Baseline CCT (worse eye, micron) | 525.5 ± 36.1 | 544.7 ± 31.8 | 0.165 |
| Baseline VF MD (mean of both eyes, decibel) | -7.0 ± 7.2 | -4.3 ± 4.0 | 0.045 |
| Baseline VF MD (worse eye, decibel) | -9.4 ± 9.6 | -6.3 ± 6.1 | 0.129 |
| OCT RNFL thickness (mean of both eyes, micron) | 66.9 ± 18.0 | 78.0 ± 12.8 | 0.014 |
| OCT RNFL thickness (worse eye, micron) | 64.1 ± 18.5 | 74.2 ± 13.6 | 0.036 |
| Antiglaucoma medication (mean of both eye, number) | 1.1 ± 0.8 | 0.7 ± 0.6 | 0.331 |
| Axial length (mean of both eyes, mm) | 23.91 ± 1.34 | 25.13 ± 2.27 | 0.111 |
Table 2.
Comparison of baseline characteristics between older and younger patients within the same family according to subgroup (parent-offspring group and sibling group)
|
Parent– offspring relationship (n = 16) |
Sibling relationship (n = 6) |
|||||
|---|---|---|---|---|---|---|
| Parent | Offspring | p-value* | Older sibling | Younger sibling | p-value* | |
| Age (years) | 65.3 ± 5.3l | 36.8 ± 12.8 | <0.001 | 54.8 ± 13.8 | 51.7 ± 12.7 | 0.026 |
| SE (mean of both eyes) | -0.49 ± 0.49 | -4.68 ± 4.68 | 0.001 | -2.90 ± 3.48 | -2.09 ± 2.63 | 0.686 |
| SE (myopic one between two eyes) | -0.77 ± 0.77 | -4.88 ± 3.66 | 0.002 | -3.20 ± 3.93 | -2.20 ± 2.63 | 0.686 |
| Baseline IOP (mean of both eyes) | 20.9 ± 0.9 | 17.6 ± 7.6 | 0.083 | 16.7 ± 4.5 | 18.1 ± 6.1 | 0.753 |
| Baseline IOP (higher one between two eyes) | 23.0 ± 3.0 | 18.0 ± 8.0 | 0.073 | 17.0 ± 4.6 | 21.0 ± 12.5 | 0.752 |
| Baseline CCT (mean of both eyes) | 515.3 ± 34.8 | 549.2 ± 49.2 | 0.020 | 558.6 ± 13.2 | 541.8 ± 51.1 | 0.465 |
| Baseline CCT (less one between two eyes) | 512.2 ± 33.2 | 546.8 ± 46.8 | 0.028 | 555.3 ± 16.6 | 540.0 ± 51.1 | 0.465 |
| Baseline VF MD (mean of both eyes) | -7.0 ± 7.9 | -3.7 ± 3.0 | 0.140 | -7.3 ± 5.5 | -5.9 ± 6.2 | 0.500 |
| Baseline VF MD (worse one between two eyes) | -9.5 ± 9.5l | -5.1 ± 5.1 | 0.177 | -9.2 ± 7.4 | -9.5 ± 9.0 | 0.893 |
| OCT RNFL thickness (mean of both eyes) | 66.2 ± 16.6 | 80.5 ± 13.0 | 0.007 | 68.7 ± 23.7 | 71.1 ± 10.0 | 0.686 |
| OCT RNFL thickness (lowest one between two eyes) | 63.4 ± 16.9 | 77.6 ± 13.9 | 0.011 | 65.8 ± 24.7 | 64.6 ± 6.9 | 0.686 |
Table 3.
Comparison of follow-up data between older and younger patients within the same family
| Older patient | Younger patient | p-value* | |
|---|---|---|---|
| Mean F/U IOP (mean of both eyes, mm Hg) | 14.1 ± 2.1 | 14.0 ± 1.9 | 0.785 |
| Mean IOP reduction from baseline (mean of both eyes, %) | 19.9 ± 19.1 | 18.6 ± 11.1 | 0.444 |
| MD rate (mean of both eyes, decibel) | -0.36 ± 0.78 | -0.35 ± 0.75 | 0.631 |
| OCT RNFL progression rate (mean of both eyes, micron) | -0.67 ± 3.13 | -0.57 ± 2.71 | 0.570 |
Table 4.
Comparison of follow-up data between older and younger patients within the same family according to subgroup (parent-offspring group and sibling group)
|
Parent– offspring relationship |
Sibling relationship |
|||||
|---|---|---|---|---|---|---|
| Parent | Offspring | p-value* | Older sibling | Younger sibling | p-value* | |
| Mean F/U IOP (mean of both eyes, mm Hg) | 14.5 ± 2.8 | 13.9 ± 1.9 | 0.412 | 14.1 ± 3.0 | 14.2 ± 3.3 | 0.776 |
| Mean IOP reduction from baseline (mean of both eyes, %) | 20.2 ± 22.1 | 18.3 ± 11.0 | 0.341 | 19.5 ± 14.5 | 19.3 ± 15.1 | 0.811 |
| MD rate (mean of both eyes, decibel) | -0.43 ± 1.1 | -0.33 ± 0.7 | 0.354 | -0.36 ± 0.48 | -0.37 ± 2.63 | 0.656 |
| OCT RNFL progression rate (mean of both eyes, micron) | -0.67 ± 3.13 | -0.57 ± 2.71 | 0.289 | -0.66 ± 3.93 | -0.65 ± 3.01 | 0.654 |
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