J Korean Ophthalmol Soc.  2016 May;57(5):829-836. 10.3341/jkos.2016.57.5.829.

Clinical Characteristics of Retinoblastoma Patients whose Diagnosis was Difficult due to Atypical Ocular Manifestation

• Lee HJ
• Jo DH
• Kim JH
• Yu YS

• KMID: 2212728
• DOI: http://doi.org/10.3341/jkos.2016.57.5.829

Abstract

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.

Keyword

Coats' disease; Hyphema; Persistent hyperplastic primary vitreous; Pseudohypopyon; Retinoblastoma

MeSH Terms

Diagnosis*
Drainage
Drug Therapy
Early Diagnosis
Follow-Up Studies
Glaucoma
Humans
Hyphema
Male
Optic Nerve
Persistent Hyperplastic Primary Vitreous
Retinal Detachment
Retinoblastoma*
Retrospective Studies
Seoul
Subretinal Fluid
Survival Rate
Uveitis

Figure

• 

  Figure 1. Imaging of patient 2. (A) Initial fundus photograph shows serous bullous kissing type retinal detachment with white opaque particles in the left eye. (B) Initial B-scan of the left eye shows increased echogenicity in the vitreous cavity, without calcification. (C) Initial computed tomography shows mild increased density in the left eye without evidence of a mass or calcification. (D) Two months after the initial visit, heterogeneous signal intensity in the left eye was noted on magnetic resonance imaging.

• 

  Figure 2. Imaging of patient 3. (A) Initial B-scan shows no definite mass-like lesion or calcification in the left eye. (B) Anterior segment photograph 2 months after Ahmed valve implantation shows an edematous cornea, shallow anterior chamber, and ciliary injection in the left eye.

• 

  Figure 3. Imaging of patient 5. (A) Initial anterior segment photograph of the right eye shows hypopyon and whitish spots on the surface of the iris. (B-D) There is no evidence of mass-like lesion or calcification on B-scan, computed tomography, or magnetic resonance imaging of the right eye at the initial visit.

• 

  Figure 4. Imaging of patient 6. (A) Anterior segment photograph of the left eye at the initial visit shows diffuse chemosis and hyphema. (B, C) Initial B-scan of the left eye and computed tomography show increased echogenicity and a dislocated lens in the vitreous cavity without evidence of mass-like lesion or calcification. (D) After 2.5 months from the initial visit, heterogeneous signal intensity in the left eye was suspicious for retinoblastoma on magnetic resonance imaging.

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