Reese Retinal Dysplasia

This disorder consists of malformation of the retina and persistence of the primary vitreous. Absence of the definitive vitreous is not surprising since its formation is dependent on the retina. The abnormality may simulate Norrie disease (310600). It is the characteristic eye change in trisomy 13 (the Bartholin-Patau syndrome), which is characterized by delay in the development of several proteins, such as adult hemoglobin and red cell catalase (Lee et al., 1966). Multiple visceral manifestations and others such as polydactyly were known to be associated (Harris and Thomson, 1937; Reese and Blodi, 1950; Reese and Straatsma, 1958; Yudkin, 1928) long before the chromosomal basis was elucidated. Aside from the importance in the differential diagnosis of microphthalmos, anophthalmos, and Norrie disease, the main reason for including mention here of Reese retinal dysplasia is that Reese and Straatsma (1958) observed 2 sibships with multiple affected members--2 out of 3 in one and 3 out of 4 in a second. In reporting the case of a 10-year-old boy, Matthes and Stenzel (1968) described minor changes in the mother and 2 sibs. Karyotype was normal in the proband.