Retinoma and phthisis bulbi of retinoblastoma. 1. Clinical and genetic analysis.
Retinoma and phthisis bulbi of retinoblastoma are rare entities found in retinoblastoma patients and their relatives. Eleven cases of phthisis bulbi of retinoblastoma and 9 cases of retinoma were identified from 1966 to 1991 in our center. The clinic data show that retinoma and phthisis bulbi are closely related to the retinoblastoma gene. Enucleation should be carried out as soon as possible without hesitation for the phthisis of eyes with retinoblastoma. Genetic counseling and frequent observation should be paid attention to retinoma patients and their offspring. The mechanism of retinoma developed is discussed. We propose that the diversity of second mutation might be the cause of retinoma.
Zhang
Q
Q
National Ophthalmological Laboratories, Ministry of Public Health, China.
Chen
Y
Y
Wu
Z
Z
Ma
Q
Q
Zeng
R
R
Guo
X
X
Li
D
D
D000328:Adult; D002648:Child; D002675:Child, Preschool; D005134:Eye Neoplasms / Q000145:classification / Q000209:etiology / Q000235:genetics*; D005260:Female; D016161:Genes, Retinoblastoma; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010375:Pedigree; D012175:Retinoblastoma / Q000145:classification / Q000209:etiology / Q000235:genetics*