First Author | Study design | Sample size (N)a | Reported conditionb | Sex (N) | Age range (years) | Optic nerve involvement (%) | Endocrine dysfunction (%) | Neuroimaging abnormalities (%) |
---|---|---|---|---|---|---|---|---|
Webb, [15] | Prospective | 11 | Isolated ONH | 2 F, 9 M | 1–11 | 7/11 (64) bilateral ONH, 4/11 (36) unilateral ONH 11/11 (100) normal to mild/moderate VI | 0/11 endocrine dysfunction | 0/11 midline brain abnormalities |
Dahl, [16] | Population-based cross-sectional cohort | 65 | ONH | 33 F, 32 M | 6.1–25.5c | 35/65 (54) bilateral ONH: 12/35 BCVA < 0.05 (blind), 1/35 BCVA 0.05—< 0.1 severe VI, 5/35 BCVA > 0.1 moderate VI, 17/35 mild to no VI 30/65 (46) unilateral ONH: 29/29 mild to no VI | – | – |
Ek, [30] | Retrospective cohort | 13 | ONH | 7 F, 6 M | 4.5–13d | 13/13 (100) bilateral ONH All severe VIe | 11/13 (85) hormonal deficiencies (GHD, TSH, ACTH, ADH, prolactin) | 11/13 (85) midline brain malformations, 9/13 (69) absent SP, 7/13 (54) pituitary abnormalities |
Fahnehjelm, [17] | Retrospective cohort | 28 | ONH | – | 4.0–9.2d | 28/28 bilateral ONHe | 16/28 (57) hormonal deficiencies (e.g. GHD, multiple pituitary hormone deficiencies) | 12/22 (55) small/absent/ectopic PP, 4/21 small AP, 14/26 (54) absent SP or CC, 9/26 (35) other cerebral findings |
Fahnehjelm, [20] | Population-based cross-sectional | 66 | ONH | 34 F, 32 M | 0.6–19.4 d, f | 22/40 (55) bilateral ONH, 18/40 (45) unilateral ONH | – | – |
Garcia-Filion, [21] | Prospective | 73 | ONH | 31 F, 42Â M | 5 (age at neurobehavioural assessment) | 60/73 (82) bilateral ONH, 13/73 (18) unilateral ONH | 57/72 (79) endocrine dysfunction (e.g. GHD, hypothyroidism) | 25/65 (38) CCH, 25/65 (38) absent SP, 8/63 (13) pituitary gland abnormality, 9/65 (14) other malformations (e.g. schizencephaly) |
Groenveld, [23] | Cohort | 19 | ONH | 10 F, 9 M | 5–14.5 | 19/19 (100) bilateral ONH 5/19 (26) near-total blindness, 7/19 (37) severe-profound VI, 7/19 (37) moderate VI | 3/13 (23) intact SP endocrine dysfunction No endocrine dysfunction in absent SP group | 6/19 (32) absent SP, 13/19 (68) intact SP |
Margalith, [6] | Retrospective cohort | 51 | Congenital ONH | 25 F, 26Â M | Up to 15Â g | 47/51 (92) bilateral ONH, 4/51 (8) unilateral ONH Each eye separately: 11/102 (11) no light perception, 31/102 (30) light perception only, 51/102 (50) partial vision, 10/102 (10) normal acuity | 19/21 (90) endocrine dysfunction | 34/38 (90) neuroradiological abnormalities e.g. 13/26 (50) absent SP, 3/38 (8) agenesis of CC, 1/38 (3) schizencephaly |
Rivkees, [24] | Prospective | 19 | ONH | – | 2 < h | 16/19 (84) bilateral ONH | 11/19 (58) GHD, 6/19 (32) THD, 8/19 (42) AHD, 2/19 (11) DI | 8/19 (42) CCH |
Williams, [28] | Cross-sectional | 7 | ONH | 3 F, 4 M | 3.75–19.2 | 4/7 (57) bilateral ONH, 3/7 (43) unilateral ONH | 0/7 endocrine dysfunction | 7/7 (100) absent SP; 3/7 (43) thinning of corpus callosum |
Williams, [29] | Cross-sectional | 7 | ONH | 4 F, 3 M | 5–9 | 2/7 (29) no light perception, 2/7 (29) light perception only, 3/7 (43) light perception in one eye | 5/6 (83) endocrine dysfunction | 3/7 (43) structural brain abnormality (e.g. CCH, absent SP) |
Jutley-Neilson, [32] | Cross-sectional | 41 | ONH ‘spectrum’ | 18 F, 23 M | 3–16 | 15/41 (37) mild-moderate VI, 12/41 (29) severe-profound VI, 14/41 (34) near-total visual loss | – | – |
Jutley-Neilson, [31] | Cross-sectional | 42 | 28 SOD, 14 ONH | 18 F, 24 M | 3–16 | 16/42 (38) mild-moderate VI, 12/42 (29) severe-profound VI, 14/42 (33) total vision loss | – | – |
Parr, [33] | Retrospective | 83 | 55 SOD, 28 ONH | 45 F, 38 M | 0.8–6.8 | 42/83 (51) profound VI, 41/83 (49) severe VI | – | 28/83 (34) additional CNS abnormality (e.g. underdevelopment of pons, cerebral malformations, hydrocephalus, white matter abnormalities, and schizencephaly) |
Griffiths, [22] | Case report | 1 | SOD | F | 13.3 | Bilateral ONH | Subnormal levels of GH, ACTH, cortisol deficiency | Absent SP |
Severino, [18] | Retrospective case–control | 38 | SOD | 17 F, 21 M | 2 days–18.3i | 27/38 (71) ONH | 10/38 (26) endocrine dysfunction (e.g. GHD, TSH, ACTH deficiency) | 21/38 (55) midbrain-hindbrain abnormalities, 14/38 (37) cortical malformations, 21/38 (55) brain stem abnormalities, 26/38 (68) pituitary abnormalities |
Vawter-Lee, [26] | Retrospective | 2 | SOD | 1 F, 1 M | 0.7–1.75 | 1/2 (50) bilateral ONH | 1/2 (50) adrenal insufficiency | 2/2 (100) absent SP |
Webb, [27] | Cross-sectional | 6 | SOD | 2 F, 4 M | 1–7 | 4/6 (67) bilateral ONH, 2/6 (33) unilateral ONH 2/6 (33) profound VI, 4/6 (67) severe VI | 6/6 (100) endocrine deficiencies (e.g. GHD, ACTH, TSH) | 6/6 (100) abnormalities (e.g. absent SP, small AP, thin CC) |
Alt, [19] | Retrospective | 17 | 1 SOD, 3 SOD-like, 13 SOD-plus | 8 F, 9Â M | Â | 16/17 (94) bilateral ONHj 17/17 (100) poor vision/blindness | 11/17 (65) endocrine deficiencies (e.g. GHD, TSH) | 13/17 (76) midline defect, 11/17 (65) SP agenesis, 2/17 (12) hypogenesis of CC, abnormal HP axis 9/17 (53), cortical malformations 13/17 (76) |
Signorini, [25] | Retrospective | 17 | 7 SOD, 3 SOD-like, 7 SOD-plus | 8 F, 9 M | 0.3–9.5 | 16/17 (94) bilateral ONH, 1/17 (6) unilateral ONH 7/17 (41) light perception only, 2/17 (12) very low vision, 7/17 (41) low vision, 1/17 (6) near normal | 9/17 (53) endocrine deficiencies (all multiple pituitary hormone deficiencies) | 14/17 (82) midline brain defects, 7/17 (41) cortical developmental malformations |