incomplete achromatopsia

in·com·plete a·chro·ma·top·si·a

[MIM*200930]
impaired but not absent color vision with less severely reduced visual acuity than in complete achromatopsia, associated with photophobia and nystagmus; autosomal recessive inheritance. An autosomal dominant [MIM*180020] form and several X-linked [MIM*304020, MIM*300085, and MIM*303700] forms exist.
References in periodicals archive ?
Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations.
Genetic etiology and clinical consequences of complete and incomplete achromatopsia. Ophthalmology 2009;116:1984-9.
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. Am J Hum Genet 2012; 91: 527-32.