Table 3 of Li, Mol Vis 2011; 17:3326-3332.

Table 3. Clinical Information of the individuals in the 83002 Family.



ID

Variations
Age
(year)
First
symptom		 Age
at
onset		 Axial
length
(right/left, mm)		 Visual
acuity
(right/left eye)		 ERG rod
and cone
responses
  CRB1 SPATA7            
I:2 c.3221T>C c.938C>A 44 No No 21.26/21.23 1.0; 1.0 Normal
II:1 c.3221T>C; c.938C>A 22 PV, NYS* FFMAB* 19.52/19.53 0.04; 0.05 Undetectable
  c.2677–2A>C              
II:2 c.3221T>C; No 20 PV, NYS FFMAB 19.31/19.95 0.02; FC Undetectable
  c.2677–2A>C              
II:3 c.3221T>C; No 18 PV, NYS FFMAB 19.53/19.93 0.06; 0.03 Undetectable
  c.2677–2A>C              

*Note: ERG: Flash ERG. The undetectable records indicated both cone and rod cell degenerated in three patients. PV=poor vision (decreased visual acuity); NYS=nystagmus; FFMAB=first few months after birth.

Li, Mol Vis 2011; 17:3326-3332. http://www.molvis.org/molvis/v17/a358

©2011 Molecular Vision http://www.molvis.org/molvis/

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