Niemann-pick types a/b
Are there any "unique" clinical features of Niemann-Pick disease (SMPD1-associated)?
People with Niemann-Pick disease (SMPD1-associated) can have an unusual finding in their eye called a "cherry-red spot." This bright red spot can be seen by an eye doctor when doing an eye exam. All children with Niemann-Pick Disease type A have a cherry red spot, but only about 1/3 with type B have one. This cherry-red spot is due to the accumulation of fat in certain eye cells.