Table 2 of
Preising, Mol Vis 2007;
13:1851-1855.Table 2 of
Preising, Mol Vis 2007;
13:1851-1855.
Table 2. Available phenotypic and genotypic data of family members
This table summarizes the data on the individuals of pedigree 766 screened for mutations in P and MCR1R. The data were obtained by ophthalmological examinations and by interview of relatives. Abbreviations: OD represents right eye; OS represents left eye; na represents not affected. o present, x absent, ID represents Identification code; VA represents visual acuity, VEP represents visually evoked potentials.
Pedigree Age at Age at Mutations Mutations Iris
ID Diagnosis Examination in P in MC1R Nystagmus VA Fundus VEP Iris color translucency Remarks
-------- --------- ----------- --------- --------- --------- -------- ------------- -------------- ----------- ------------ ---------------
II.1 na N476S/+ +/+
II.6 na 74 y. C793F/+ R160W/+ x OD: 0.8 Normal light blue x
OS: 0.8
II.7 na V60L/
G104S
III.1 na +/+ R160W/+
III.2 at birth died at 10 o
d due to
infection
III.3 1 y, 54 y. N476S/ R160W/+ o OD: 0.1 o - very light
C793F OS: 0.2 hair at birth
III.6 at birth 47 y. N476S/ R160W/+ o OD: 0.16 hypopigmented badly pinkish o - very light
C793F OS: 0.2 no macular differentiated hair and skin
reflex but in at birth -
accordance light skin
with easily burning
misrouting - blond at
examination
III.8 at birth 45 y. C793F/ G104S/ o OD: 0.3 hypopigmented moderately light o - very light
V443I R160W OS: 0.25 no macular differentiated brown/green hair and skin
reflex but in at birth -
accordance light skin
with easily burning
misrouting - blond at
examination
III.9 na 40 y. +/+ V60L/
R160W
III.10 at birth died at 34 markedly less light skin
y. due to reduced than other
cardiac vision affected of the
heart family
attack
IV:1 na 30 y. N476S/+ R160W/+ x OD: 1.6 - lightly blue-green o - blond hair -
OS: 1.6 hypopigmented easily burning
- normal
macular
reflex - OS:
choroidal
nevus
IV:2 na 28 y. C793F/+ R160W/+ x OD: 1.6 - light blue o - very blond
OS: 1.6 hypopigmented hair - light
periphery - skin
normal
macular
reflex
IV:3 na 27 y. C793F/+ +/+ x OD: 0.8 - - light o - dark blond
OS: 0.8 hypopigmented blue hair - easily
periphery - burning
normal
macular
reflex
IV:4 na 15 y. N476S/+ R160W/+ x OD: 1.0 - - light o - dark blond
OS: 1.0 hypopigmented blue hair - light
periphery - skin - easily
normal burning -
macular congenital
reflex hypothyreoidism
IV:5 na 25 y. C793F/+ R160W/ x OD: 1.25 - normal - x - red-blond
R151C OS: 1.25 pigment - blue-brown hair - light
normal skin - tans
macular easily
reflex
IV:6 na 21 y. V443I/+ V60L/ x OD: 1.0 - normal - x - Dark blond
G104S OS: 1.0 pigment - green-brown
normal
macular
reflex
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