At the Royal Institutes for the Blind in Denmark 7 cases of congenital bilateral pseudotumor of the retina have been observed in 4 generations of the same family; the first case was diagnosed in 1860. The disease is transmitted by X-chromosomal inheritance through females to males. All the affected patients were totally blind from birth, and the uniform clinical picture in all the cases was characteristic. Five later developed severe deafness, and 4 were mentally deficient. No other malformations were observed in this family whose members have been followed through 7 generations.
The pedigree of the family, which comes from the small isolated island of Bornholm in the Baltic, is shown in Figure 1.
Report of Case
The subject is an 8-month-old Danish boy (marked p in Fig. 1), patient of Dr. K. Dreisler.His mother had negative serological reactions for syphilis and toxoplasmosis. The pregnancy and delivery were
ANDERSEN SR, WARBURG M. Norrie's DiseaseCongenital Bilateral Pseudotumor of the Retina with Recessive X-Chromosomal Inheritance; Preliminary Report. Arch Ophthalmol. 1961;66(5):614-618. doi:10.1001/archopht.1961.00960010616003