Selective XXXX with protan genotype.

@entity1 @entity12707 @entity409 @entity6121 @entity6024
PURPOSE: To determine the functional defects in two male @entity1 with progressive @entity6121 and hybrid L-M cone pigment genes. METHODS: Clinical evaluation, standard electroretinography, and electrooculography were performed in two affected @entity1 and two family members. Measurements of spectral sensitivity and transient @entity12707 were made in both @entity1 . RESULTS: In the @entity1 , visual acuity varied between 20/50 and 20/100. The electroretinogram showed reduced flicker responses. When light adapted, a-wave amplitudes were borderline, but b-wave amplitudes were reduced severely. Electroretinography with chromatic stimuli showed a difference between well-preserved responses to green and markedly reduced responses to red stimuli. Spectral sensitivity measurement revealed a lack of L (long-wavelength sensitive; red) cone function and normal function of the S (short-wavelength sensitive; blue) and M (middle-wavelength sensitive; green) cones. Transient @entity12707 was abnormal, indicating a severe disturbance of cone-cone interaction. CONCLUSIONS: Progressive @entity6121 with @entity409 of L cones exists in both @entity1 . The @entity6121 may be caused by a rearrangement of the X-chromosome pigment gene array that is associated with the deletion of L-cone sequences and the formation of hybrid L-M cone pigment genes. It cannot be excluded, however, that both @entity1 have @entity6024 and that @entity6121 developed because of other causes.
