Table 1 of Rosenberg, Mol Vis 2010; 16:2659-2668.

Table 1. Clinical findings in examined family members.

Subject Diagnosis Age at exam Snellen VA R/L Refract. R/L Color vision Visual fields ERG Additional findings
II-1 NCMD 48 1.0
0.2 +0.75
+2.00 N.D. Normal Normal Amblyopia L.E.
II-2* NCMD 46 0.8
0.8 +2.50–1,5x35°
+2.00 N.D. N.D. N.D. Hemorrhages and cotton wool spots due to undiagnosed hypertension
II:3* NCMD 44 1.0
1.0 +2.25–0.5x110°
+2.00–0.5x75° N.D. N.D. N.D. Exotropia
II-4 NCMD 33 0.5
0.4 −1.00x90°
−1.00–1.00x80° Ishihara 2 errors, Lanthony tritan normal Normal N.D. Non-visual reading difficulties
III-1 NCMD 22 1.0
1.0 −0.50
−0.50 N.D. N.D. N.D. N.D.
III-2 NCMD 20 1.0
1.0 Emmetropia
Emmetropia Ishihara, Farnsworth D15, Lanthony tritan: normal N.D. N.D. N.D.
III-3 NCMD 12 0.66
1.33 +3.00–0.25x110°
+1.25–0.25x25° Ishihara, Lanthony tritan: normal Slightly constricted lower right quadrant Normal Slight photophobia
III-4 NCMD 10 1.33
1.33 Emmetropia
Emmetropia N.D. N.D. N.D. N.D.
III-5* NCMD 24 1.0
1.0 Emmetropia
Emmetropia N.D. N.D. N.D. N.D.
III-6* Normal 21 1.0
1.0 +4.00–1.00x100°
+4.00–1.25x75° N.D. N.D. N.D. N.D.
III-7* NCMD 17 1.0
0.8 +4.50–2.50x25°
+4.45–2.50x160° N.D. N.D. N.D. Left esotropia

Subject numbers refer to the pedigree Figure 1. Individuals marked with an asterisk were examined in private practice, while those without asterisks were examined at the National Eye Clinic. The presence or absence of macular lesions typical for NCMD was based on inspection of fundus pictures. V.A. Snellen visual acuity, R/L right/left, N.D. no data.

Rosenberg, Mol Vis 2010; 16:2659-2668. http://www.molvis.org/molvis/v16/a285

©2010 Molecular Vision http://www.molvis.org/molvis/

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