PURPOSE:
To
report the clinical characteristics of
retinoblastoma patients whose
diagnosis was difficult due to atypical ocular manifestations.
METHODS:
Among
retinoblastoma patients who were diagnosed and treated from January 1999 to December 2014 at
Seoul National
University Children's
Hospital, 6
patients whose
diagnosis was difficult were retrospectively reviewed. Factors including age,
sex,
family history, initial findings,
time to final
diagnosis, histopathologic examination, additional
treatment, and
survival rate were evaluated.
RESULTS:
Among 6
patients, 5 were
male, and the mean age at the initial visit was 32.9 ± 19.1 months. None of the
patients had
family history, and all presented with unilateral lesion at the initial visit. The initial
diagnoses were
Coats' disease and
uveitis in 2
patients, respectively, and
persistent hyperplastic primary vitreous and traumatic
hyphema in 1
patient, respectively. During an intensive short-term follow-up of 8.3 ± 5.3 weeks, 2
patients showed malignant
cells after external
subretinal fluid drainage procedure, and 4
patients demonstrated increasing ocular size or calcification in imaging. These
patients received enucleation under suspicion of
malignancy and were finally diagnosed with
retinoblastoma after histopathologic examination. There were 2
patients with
optic nerve involvement, and 3
patients underwent additional systemic
chemotherapy. Five
patients were followed-up for 7.6 ± 6.3 years after enucleation, and the mean age at final follow-up was 10.6 ± 7.4 years.
CONCLUSIONS:
Retinoblastoma is one of the
diseases in which
early diagnosis and
treatment are important. However, some cases are difficult to
diagnose, even for experienced clinicians. If there are no typical manifestations such as mass or calcification and early findings show
retinal detachment,
glaucoma, pseudohypopyon, or
hyphema, intensive short-term follow-up to exclude
retinoblastoma is needed.