title: Retinitis punctata albescens. A family study.
abstract: 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.
authors.affiliation: Department of Ophthalmology, University of Kuopio, Finland.
authors.forename: M
authors.initials: M
authors.lastname: Katajakunnas
authors.forename: M
authors.initials: M
authors.lastname: Mäntyjärvi
mesh_terms: D000328:Adult; D003623:Dark Adaptation; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D008297:Male; D012173:Retinitis / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D013577:Syndrome; D014794:Visual Fields