Table 1 of
Nallathambi, Mol Vis 2006;
12:236-242.Table 1 of
Nallathambi, Mol Vis 2006;
12:236-242.
Table 1. Clinical features of study subjects affected with congenital optic nerve malformation
This table describes the clinical diagnosis of 27 sporadic probands affected by a variety of congenital optic nerve malformations. "ONH" refers to optic nerve hypoplasia, "ODC" and "MGS" indicates optic disc coloboma and morning glory syndrome, respectively. "DMS" designate De-Morsier's syndrome. In the "best vision" column, "LP" refers to light perception; "NLP" indicates no light perception. In the "systemic findings" column, "NA" refers to not available and "HT" indicates hypothyroidism. The asterisk designates the cases with PAX6 mutations identified in this study. "HM" refers to hand motions.
Best vision Diagnosis
Study Age/ ----------- ----------------------------------------- Systemic
Cases Sex RE LE RE LE findings
----- ------ ---- ---- ------------------- ------------------- --------
ONH
1-1 8/M 1/6 5/6 Nystagmus Nystagmus DMS
2-1 4/M 6/60 HM Nystagmus Micro cornea, NA
Nystagmus
3-1 11/M 6/60 4/60 Nystagmus Nystagmus NA
4-1* 4/M 3/60 3/60 Pupil-poor reactive Pupil-poor reactive DMS
in light in light
5-1 7/M 1/60 6/6 Latent nystagmus Normal NA
6-1 6m/M - - -- -- DMS
7-1 4/M 5/60 2/60 Myopia, horizontal Myopia, horizontal NA
jerky nystagmus jerky nystagmus
8-1 17/F 3/60 3/60 -- -- NA
9-1 9/F HM HM -- -- HT
ODC
1-1 2/F 6/60 6/60 Microcornea Microcornea -
2-1 8m/M - - Nystagmoid Nystagmoid -
movements movements
3-1 15/M 2/60 2/60 Microphthalmos, Microphthalmos, -
Nystagmus Nystagmus
4-1 18/M 3/60 PL Microphthalmos, Microphthalmos, -
Nystagmus Nystagmus
5-1* 6/M HM HM -- -- -
6-1 4m/M - - Anophthalmos -- -
7-1 1/M - - Microcornea/ Microcornea/ -
microphthalmos microphthalmos
8-1 11/F 6/18 2/60 Optic disc pit -- NA
9-1 10/M NLP NLP Microphthalmos Microphthalmos -
10-1 10/M 6/60 - Myopic fundus, Anophthalmos -
Nystagmus
11-1 1/F - - Normal Microphthalmos -
12-1 1/F - - Microphthalmos, -- -
Microcornea
13-1 5/M - 6/6 Severe Normal -
microphthalmos
14-1 8m/M - - Microphthalmos, Microphthalmos, -
Nystagmus, Nystagmus,
Telecanthus Telecanthus
MGS
1-1 3/M 6/9 HM Normal MGS, ODC -
2-1 18m/M - - Normal MGS, ONH -
3-1 7/M - - MGS, ODC, cataract Severe -
microphthalmos
4-1 11/F 6/60 6/6 MGS, ODC Normal -
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