Table 1 of Rothschild, Mol Vis 2013; 19:2040-2049.

Table 1. Summary of clinical characteristics of the wagner family with the c.4004–6T>A VCAN mutation

Patient/Age Visual acuity (Right/Left) Refractive status Uveitis Cataract Glaucoma Optically empty vitreous with veils Chorioretinal atrophy Retinal detachment
I-2/72yrs NLP/0.6 Pseudophakic + ++ ++ + + +
II-1/45 years 0.6/0.1 Pseudophakic +++ +++ + +++ ++ -
II-4/48 years 0.8 /0.8 Mild myopia - ++ - + + -

NLP: no light perception; clinical severity is graded as mild (+), moderate (++) or severe (+++) according to the intensity and/or the early-onset nature of the manifestation

Rothschild, Mol Vis 2013; 19:2040-2049. http://www.molvis.org/molvis/v19/2040

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