Table 2 of Micheal, Mol Vis 2012; 18:1918-1926.


Table 2. Clinical evaluation of affected family members.

Patient ID Manifestation III:4 III:5 III:7 IV:4 IV:5 IV:7 IV:8 IV:9 IV:11 IV:12 IV:13
Age (years)   55 40 35 30 28 12 16 8 20 6 6
Gender   M M M M M F F F M M M
Ocular System
(i) Ectopia lentis + + + + + + + + + + +
(ii) Myopia + + + + + + + + + + +
(iii) Abnormally flat cornea - - - - - - - - - - -
(iv) Early development of nuclear cataract + + + - - - + - + + +
(V) Glaucoma (IOP) R34 15 R14 R15 R14 R20 R16 R12 R18 R14 R18
    L34 15 L14 L12 L16 L24 L16 L14 R16 L12 L20
(Vi) Retinal detachment + - + + - - - - - - -
Cardiovascular system
(i) Aortic root dimension (mm)* 32 31.8 23.6 35.1 27.5 25.1 28.7 20 34 35 20
(ii) Mitral valve prolapse - - - - - - - - - - -
(iii) Dilation of pulmonary artery - - - - - - - - - - -
Skeletal system
(i) Height (H; cm) 176.7 173.4 167.6 170.6 167.4 146.3 158.5 121 167.6 106.6 106.6
(ii) Arm span (AS; cm) 182 177 172 175 173 153 164 125 175 110 110
(iii) AS/H (normal <1.05) 1.03 1.02 1.02 1.02 1.03 1.04 1.03 1.03 1.04 1.03 1.03
(iv) Pectus carinatum - - - - - - - - - - -
(v) Pectus excavatum - - - - - - - - - - -
(vi) Arachnodactyly + + + + + + + + + + +
(vii) High palate with dental crowding + + + + + + + + + + +
(viii) Flatfoot + + + + + + + + + + +
(ix) Characteristic face (long narrow head, hollow cheeks, recessed or protruding jaw) + + + + + + + + + + +
Other manifestations
(i) Hyperextensible skin - - - - - - - - - - -
(ii) Striae - - - - - - - - - - -
(iii) Hernia + + + + + - - + + - -