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

Preising, Mol Vis 2007; 13:1851-1855 <http://www.molvis.org/molvis/v13/a206/>
©2007 Molecular Vision <http://www.molvis.org/molvis/>
ISSN 1090-0535