ObjectiveTo identify the pathogenic mutation in a three generation Chinese family with low penetrance retinoblastoma (RB). Methods8 from 9 family members received complete ophthalmic examinations. DNA was extracted from 6 family members. Using exon combined target region capture sequencing chip to screen the candidate disease-causing mutations. Sanger sequencing were used to confirm the disease-causing mutation. ResultsAmong 9 family members, the proband (Ⅲ2) was bilateral RB, Ⅲ1 was unilateral RB, Ⅲ3 was dead for bilateral RB. Normal fundus were observed in the left eye ofⅢ1 and the eyes of other family members except the proband. Sequence analysis of RB1 gene revealed a missense mutation c.1981C > T (p.Arg661Trp) in the proband and two carriers (Ⅱ2, Ⅱ3), but not in the two normal subjects (Ⅱ1, Ⅱ4). We suspect that the RB penetrance in the family was 50%. ConclusionsThere is a missense mutation c.1981C > T in a Chinese family with low penetrance RB. The RB penetrance is 50%.
ObjectiveTo observe the application value of RetCam Ⅲ in the diagnosis of retinoblastoma (RB). MethodsThe clinical data of 125 eyes from 94 patients with RB were retrospectively analyzed. According to the International Intraocular Retinoblastoma Classification, the results of binocular indirect ophthalmoscope and RetCam Ⅲ was compared. The consistency between RetCam Ⅲ and binocular indirect ophthalmoscope was analyzed by Kappa test. The detectable rates of tumor between binocular indirect ophthalmoscope, RetCam Ⅲand B scan ultrasound were comparatively analyzed. ResultsBy binocular indirect ophthalmoscope, there were 18 eyes (14.4%) in stage A, 15 eyes (12.0%) in stage B, 10 eyes (8.0%) in stage C, 28 eyes (22.4%) in stage D, and 54 eyes (43.2%) in stage E. Using RetCam Ⅲ, the classification was 18 eyes (14.4%) in stage A, 16 eyes (12.8%) in stage B, 11 eyes (8.8%) in stage C, 27 eyes (21.6%) in stage D, and 53 eyes (42.4%) in stage E. The RB classification of RetCam Ⅲ was quite consistent with binocular indirect ophthalmoscope (Weighted Kappa Coefficient=0.979 8, 95% confidence interval=0.960 1-0.999 5). A total of 150 tumors from stage A-D were observed by binocular indirect ophthalmoscope. In which, 147 tumors (98.0%) were found by RetCam Ⅲ, 122 tumors (81.3%) were found by B scan ultrasound. No serious complication was found in these patients. ConclusionsRetCam Ⅲ can detect RB of different stage in clinic. It is quite consistent with binocular indirect ophthalmoscope.
ObjectiveTo analyze the clinical features, treatment and prognosis of asymptomatic patients with retinoblastoma.MethodsA retrospective series of case study. Eight asymptomatic patients (11 eyes) with the diagnosis of retinoblastoma by screening enrolled in Department of Ophthalmology of The Eye-ENT Hospital of Fudan University from January 2006 to March 2019 were included. There were 6 males and 3 females ranging from 2 days to 20 months, with a median age of 6 months. Five patients were unilateral retinoblastoma while 3 patients were bilateral. Based on the International Classification of Intraocular Retinoblastoma, 4 eyes were stage A, 3 eyes were stage B and 4 eyes were stage C. One patient had family history. Four patients were evaluated the Rb1 mutation. Routine ophthalmic examinations and ultra-wide field fundus imaging were performed on the 16 parents and 3 siblings of the 8 patients. Systemic intravenous chemotherapy was performed using the Carboplatin, Vincristine, Etoposide protocol, intra-arterial chemotherapy using Carboplatin and Melphalan, and local treatment involved cryotherapy and transpupillary thermotherapy. The mean follow-up time is 47.25 months.ResultsNone of the 8 children had any ocular symptoms. Six patients received intravenous chemotherapy (5-6 times), 1 patient received intra-arterial chemotherapy (3 times), and 1 patient just received local treatment. Among the 11 eyes, 9 eyes were treated with local cryotherapy and 8 eyes were treated with transpupillary thermotherapy. During the follow-up period, 2 patients had new tumor, and the average time was 6.3 months after the last chemotherapy. At the last follow-up, the tumor disappeared in 11 eyes, remained stable in 11 eyes. The eye protection rate was 100% (8/8) for patients without eyeball excision. The best corrected visual acuity was 0.1 for 3 eyes and 1.0 for 5 eyes. Three eyes were not found. One heterozygous mutation of Rb1 gene [1c.35_69del (p.T12fs)] was identified in 1 patient, and the other 3 patients were not detected. One had bilateral bulbar tuberculosis of the 16 parents, 1 had bilateral RB of the 3 siblings. They were the mother and brother of a child with bilateral RB.ConclusionsFundus screening is helpful for the detection of early RB. The eye protection rate is high and the long-term vision prognosis is good after systemic or topical chemical drugs (IVC, IAC) and ocular topical treatment (cryopreservation and transpupillary thermotherapy).