Amish, Mennonite, and Hutterite
Genetic Disorder Database

Achromatopsia 2

Disorder
OMIM #: #216900  (Click to access OMIM database)
Disorder: Achromatopsia 2 
Also known as: COLORBLINDNESS, TOTAL ROD MONOCHROMATISM 2 ROD MONOCHROMACY 2
RMCH2  
Clinical
Phenotype: photophobia, reduced visual acuity, nystagmus, complete inability to discriminate between colors 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Old Order Mennonite  
Gene: CNGA3
Base Change: G>A, at nucleotide 1126
Amino Acid Change: glu 376 --> lys
Last updated: 2020-02-03 

References
Personal communication; seen at CSC.  

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