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. 2020 Jul 7;41(3):638–645. doi: 10.1097/IAE.0000000000002879

Table 1.

Summary of Fundus Autofluorescent Features and Visual Field Defects in Patients With Stickler Syndrome

Patient No. Family Kinship Sex Age at Examination (yo) R/L Refraction (Diopters) BCVA Predominant FAF Status Visual Field Defect at Maximum Level of Isopter: Associated Findings* Remarks Patient No of Early Report (Reference)
1 1 Proband F 5 R −5 20/25 None None Not listed
L −5 20/25 None None
2 2 Proband F 5 R −14.5 20/66 None NA Not listed
L −13.0 20/40 Hyperfluorescent NA
3 3 Proband M 7 R −10 20/16 None NA 22 (15)
L −13 20/33 None NA
4 3 Ant F 25 R −7.25† 20/66† Hypofluorescent V4: O/O/O/U R) Cat (27 yo), L) Cat (28 yo), FAF:B) Macular hyperfluorescent AF spot, B) circumferential hypoflurecent AF to the equator 24 (15)
L −14.5† 20/28† Hypofluorescent V4: O
5 3 Mother F 29 L −15.87 20/25 None V4: Av Cat (28 yo), FAF: Macular hyperfluorescent spot, FA: temporal avascular 23 (15)
6 4 Proband F 9 R −12 20/66 Hyperfluorescent None Not listed
L −12 20/40 Hyperfluorescent None
7 5 Proband M 10 L −6.75 20/25 None I4c: U 23 (2)
8 6 Proband M 10 R −14 20/33 Hyperfluorescent NA 13 (15)
L −12.75 20/200 Hyperfluorescent NA
9 7 Proband M 10 L −14 20/22 None V4: Pc Vit (9 yo) 1 (15)
10 7 Mother F 35 R −4.5† 20/20† Hypofluorescent V4: R/Pc L) Vit (35 yo) 2 (15)
L −5.5† 20/20† Hypofluorescent V4: O/Pc
11 7 Sister F 4 R −9 20/50 Hyperfluorescent NA 3 (15)
L −9 20/20 Hyperfluorescent NA
12 8 Proband F 12 R −7.75 20/28 Hypofluorescent V4: R/O/O 9 (15)
L −7.75 20/40 Hyperfluorescent V4: R/R
13 8 Mother F 35 R −6.25 20/20 Hyperfluorescent None 11 (15)
L −3.75 20/40 Hyperfluorescent I4e: R
14 9 Proband M 13 R −5.25 20/20 Hyperfluorescent I4e: R/O 27 (2)
L −4.75 20/16 Hyperfluorescent I4e: R/R
15 10 Proband M 14 R −7.5 20/20 Hyperfluorescent V4: U L) Vit (10 yo) 8 (15)
L −6.25† 20/16 None V4: Pc
16 11 Proband M 15 R −11 20/22 Hyperfluorescent None 21 (15)
L −13.25 20/22 Hyperfluorescent V4: R
17 12 Proband M 15 R −8 20/16 Hypofluorescent V4: O/U B) Cryo 5 (15)
L −7 20/22 Hypofluorescent V4: O/U
18 13 Proband M 17 R −14 20/33 Hypofluorescent NA R) ENC/Vit/Cat (17 yo), L) ENC (14 yo) 4 (15)
L −10 20/16 Hypofluorescent NA
19 14 Proband M 18 R −3.5 20/66 Hypofluorescent V4: R/O R) Vit (14 yo) 6 (15)
L −5.25 20/20 Hypofluorescent I4e: O
20 15 Proband M 27 R −8 20/16 Hypofluorescent V4: O 12 (15)
21 16 Proband F 30 R −9 20/22 Hypofluorescent V4: O/O/O/O/O/U Not listed
L −10 20/20 Hypofluorescent V4: O/O/O/O/U/U
22 17 Proband M 36 L −18 20/16 Hypofluorescent V4: O 6 (15)
23 18 Proband F 37 R −11 20/133 Hypofluorescent NA 19 (2)
L −12.25 20/40 Hypofluorescent NA
24 19 Proband F 39 R −14† 20/66† Hypofluorescent V4: O/O/O/O/O/O/O B) Cat (40 yo) 15 (15)
L −10† 20/33† Hypofluorescent V4: O/O/O/O/O/O/O
25 19 Daughter F 13 R −8 20/66 Hypofluorescent V4: O/O/O/O/O/Pc Not listed
L −12 20/20 Hypofluorescent V4: R/U
26 20 Father M 49 L −10.25 20/22 Hypofluorescent V4: Pc 20 (15)
*

Note that “V4: O/O/O/U” indicates four visual field defects found at an isopter level of V4 consisting of three hypofluorescent AF lesions (O) and one lesion due to undetermined cause (U).

†

Status before surgery.

Av, avascularization; B, both eyes; BCVA, best-corrected visual acuity; Cat, cataract surgery; Cryo, cryotherapy; ENC, encircling; NA, not analyzed; O, hypofluorescent; Pc, photocoagulation; R, hyperfluorescent; U, undetermined; Vit, vitrectomy, yo, year-old.