Microphthalmos in a family

Details of 22 members from three generations of a family exhibiting systemic and ocular abnormalities are presented. The former include mild mental retardation and a high incidence of abortion or death in the neonatal period. Ocular features comprise: microphthalmos, strabismus, hypermetropia, reduced ocular axial length and abnormal peripapillary pigmentation. The microphthalmos was seen in three forms: bilateral, severe or mild and severe microphthalmos of one eye with the fellow eye mildly affected. No individual with any degree of microphthalmos had a normal sized fellow eye and no normal individual produced an affected child. The genetic implications are discussed. The possible aetiologies of the various features are discussed and that this condition is a neurocristopathy is also considered.