This 30 year old man has had reduced acuity and abnormal color vision OU since early childhood.
Color Vision: | Correctly identified the Ishihara control plate but none of the 13 diagnostic plates, OU. |
---|---|
Refraction OD: | -2.50 +2.50 x 10 |
Refraction OS: | -3.00 +2.50 x 5 |
The clinical features supporting the diagnosis of blue cone monochromacy in this patient include: stable reduced acuity, photophobia and very poor color vision since early childhood, a normal fundus appearance, normally sighted parents and three similarly affected male relatives on the maternal side of his family.
Age at visit: 55 years |
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
Blue Cone Monochromacy | L/M OPSIN Cluster | Deletion of LW opsin genes + Gly204Ser GGC>AGC in single MW opsin gene | XL |