Table 3 of
Gamundi, Mol Vis 2007;
13:1031-1037.Table 3 of
Gamundi, Mol Vis 2007;
13:1031-1037.
Table 3. Summary of clinical aspects in mutated families
AVMD indicates adult viteliform macular dystrophy; BPD indicates butterfly-shaped pattern dystrophy; CACD indicates central areolar choroidal dystrophy, ERG indicates electroretinogram, LE indicates left eye, Metam indicates metamorphosia, N.A indicates not available, Photo indicates photophobia, RE indicates right eye, V.F indicates visual field.
Onset Age at
of visual
vision acuity Central
Mutation loss <1/10 VF Photo
(family) (years) (years) loss /Metam Macula ERG
---------------- ------- ------- ------- ------ ---------------------------------------- --------------------
Tyr141His 40 --- + +/- Yellowish lesions at macullae. decrease amplitude
(DM-24) Atrophy and destructuration of RPE. "b" wave in rods,
AVMD mixed and cones
Arg142Trp 35 50 + Subretinian yellowish spots at macullae.
(DM-25) RPE destructuration and atrophy. CACD
Arg142Trp 37 55 + CACD decrease "b" wave
(DM-115) in cones
Gly148Ala fsX152 40-45 50 + -/- Subretinian yellowish round lesions. decrease "b" wave
(DM-3) RPE destructuration and atrophy. CACD in rods, mixed
and cones
Arg172Trp 40 60 + +/+ Irregular pigmentation. Normal
(DM-15b) Demarcated atrophy of central retina.
CACD.
Arg172Trp 35-55 60-75 + +/+ Demarcated atrophy of central retina. Normal
(DM-16b) CACD.
Arg195Leu 14 26 ++ Yellow deposits. Destructuration of RPE. Not Performed
(DM-48) PMD.
Tyr204ProfsX211 50-70 55-75 +/- +/+ Yellow deposits. Destructuration of RPE. Not Performed
(DM-2) PMD.
Gly208Asp 36 + -/+ RPE atrophy Flecks in macula. PMD. Photopic: Normal
(B-263) Scotopic: Normal
Cys213Phe 34 34 + + AVMD Normal RE decrease
(DM-136) "b" wave in cones
LE
Cys214Tyr 35 - -/+ Starred aspect and destructuration of Not Performed
(DM-13) RPE. PMD.
Arg220Trp 45 + Total BPD Photopic: Normal
(B-197) central Scotopic: Normal
visual
loss
Asp237_Thr240del 43 - +/+ BPD Photopic: Normal
(B-271) Scotopic: Diminished
Arg248GlyfsX301 36 -/+ Macula RPE alteration. PMD. Photopic: Normal
(B-206) Scotopic: Normal
IVS2+2T>C 48 years + -/- Central RPE atrophy. PMD.
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