[Retinoma and phtisis bulbi: benign expression of retinoblastoma].
Systematic investigation of families of children suffering from retinoblastoma reveals more and more cases of retinoma or phthisis bulbi, cases which used to be called "spontaneous regression". Between 1975 and 1991, we have in this way discovered 11 cases (7%) certain to be carrying retinoma or phthisis bulbi, and a further 5 cases where the same diagnosis is highly probable. Of the 11 certain cases, 5 are unilateral, 6 bilateral, and 8 present family history of the disease. Of the total number of 17 eyes, 16 present retinoma, 1 phthisis bulbi. On clinical examination, all (100%) showed characteristic lesions in the form of greyish homogenous elevated masses in the vitreous cavity. 11 presented calcifications (69%) and in 14 disturbance of the pigment epithelium occurred (87%). The average follow-up is 4 years. Of the 11 patients, 8 are of procreating age and have up to now 25 offsprings. Amongst these, 15 have retinoblastoma (60%), 2 retinoma and phthisis bulbi (8%). All except one of the retinoblastoma cases are bilateral. This study would appear to show that retinoma occurs with a higher frequency than that which is usually given. The figures show clearly that retinoblastoma and retinoma derive from the same genetic disturbances, possibly at different times during cell maturation, and consequently require the same investigation and follow-up.
Balmer
A
A
Hôpital Ophtalmique Jules Gonin, Lausanne.
Munier
F
F
Gailloud
C
C
D000328:Adult; D002648:Child; D002675:Child, Preschool; D005134:Eye Neoplasms / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D015972:Gene Expression Regulation, Neoplastic / Q000502:physiology*; D005787:Gene Frequency / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009365:Neoplasm Regression, Spontaneous; D010375:Pedigree; D012175:Retinoblastoma / Q000175:diagnosis / Q000235:genetics*
Rétinomes et phtisis bulbi: expression bénigne du rétinoblastome.