A case report of retinitis punctata albescens in a young medical student is presented. At first, the condition was stationary with no visual problems, but after 3 years, the disease showed progression. After 9 years of follow-up, loss of visual acuity, a central scotoma, large errors in colour vision tests, much deteriorated dark adaptation, greatly diminished cone and rod responses in the electroretinogram, and progression in the myopic refraction were observed. In the family study, 71 of the relatives in four generations were examined. No signs of the disease could be found. Most probably, the disease is inherited as an autosomal recessive trait. However, tracing the ancestors back until the year 1829 no consanguinity could be found between the families of the mother and the father of the proband. As for genetic counseling of the relatives, there is a very small probability of acquiring the disease if marriages between relatives are avoided.

All 3 children, 2 boys and 1 girl (the probands), in a family had high myopia and subnormal visual acuities. The boys had high myopia in both eyes, the girl had high myopia in 1 eye and low myopia in the other eye. Both of the boys had a protanomalous colour vision defect. The colour vision testing of the high myopic eye of the girl was not successful, the other eye had normal colour vision. In the electroretinogram examination, both cone and rod responses were decreased in 2 of the children. In the family study, results of an eye examination of 30 relatives were available. No other cases of high myopia or subnormal visual acuities were found. The father of the children, 1 of the paternal relatives, and 5 of the maternal relatives had low myopia. One maternal male cousin of the probands had a protanomalous colour vision defect. In the genealogical study, no relationship was found between the families of the father and the mother of the probands going back to the fifth generation. The heredity of this disorder is difficult to define. It could be autosomal dominant or recessive if the myopia only are taken into consideration. If the high myopias and cone dysfunction are considered to be parts of the same syndrome, the heredity could be x-chromosomal recessive or autosomal recessive.