JKOS Journal of the Korean Ophthalmological Society J Korean Ophthalmol Soc 0378-6471 2092-9374 Korean Ophthalmological Society 10.3341/jkos.2016.57.5.829 jkos-57-829 Original Article Clinical Characteristics of Retinoblastoma Patients whose Diagnosis was Difficult due to Atypical Ocular Manifestation LeeHaeng Jin MD 1 JoDong Hyun MD 2 3 KimJeong Hun MD, PhD 1 2 3 YuYoung Suk MD, PhD 1 3 Department of Ophthalmology, Seoul National University College of Medicine, Seoul, Korea Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea Fight against Angiogenesis-Related Blindness Laboratory, Biomedical Research Institute, Seoul National University Hospital, Seoul, Korea Address reprint requests to Young Suk Yu, MD, PhD Department of Ophthalmology, Seoul National University Hospital, #101 Daehak-ro, Jongno-gu, Seoul 03080, Korea Tel: 82-2-586-5366, Fax: 82-2-741-3187 E-mail: ysyu@snu.ac.kr 09 2016 07 9 2016 57 5 829 836 18 2 2016 16 3 2016 11 4 2016 © 2016 The Korean Ophthalmological Society 2016 This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/ which perm its unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. 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 fdlow-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 fdlow-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 fdlow-up to exclude retinoblastoma is needed.

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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.

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.

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.

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.

Clinical characteristics of patients with retinoblastoma at initial diagnosis

Case Age (months) Sex R/L Family history Chief complaint Initial ocular findings Calcification on B-scan and/or orbital CT Initial diagnosis Initial procedure
1 31 M L (-) Ciliary injection Bullous total RD (-) Coats’ disease SRFD
2 17 M L (-) Leukocoria Bullous total RD (-) Coats’ disease, 2nd glaucoma SRFD
3 13 M L (-) Leukocoria, buphthalmos NVI, RD, VH (-) PHPV Lensectomy, VT, AGV implantation
4 60 F L (-) Leukocoria Retrolental white mass, exudate (-) Uveitis Subtenon TA injection
5 54 M R (-) Leukocoria Pseudohypopyon (-) Uveitis Oral and topical steroid
6 19 M L (-) Ciliary injection, lid swelling Hyphema, VH (-) Traumatic hyphema, VH AC and vitreous irrigation

R = right; L = left; CT = computed tomography; M = male; F = female; RD = retinal detachment; SRFD = subretinal fluid drainage; NVI = neovascularizqtion of the iris; VH = vitreous hemorrhage; PHPV = persistent hyperplastic primary vitreous; VT = vitrectomy; AGV = ahmed glaucoma valve; TA = triamcinolone acetonide; AC = anterior chamber.

Clinical characteristics of patients with retinoblastoma at the final diagnosis and during the follow-up period

Case ICR Signs for diagnosis Time to final diagnosis (weeks) Final treatment Histopathologic examination Additional treatment Reason for additional treatment Time from enucleation to additional treatment (months) Age at final follow-up (years)
Type Optic nerve involvement
1 E Malignant cells in SRF 1 Enucleation Exophytic (-) Chemotherapy Recurred mass in orbit 5 7
2 E Malignant cells in SRF 15 Enucleation Exophytic (+) Follow up loss - - -
3 E Mass 12 Enucleation Exophytic (-) Chemotherapy Previous invasive procedure Immediately after enucleation 5
4 E Mass with calcification 8 Enucleation Endophytic (-) (-) - - 25
5 E Mass 2 Enucleation Endophytic (-) (-) - - 8
6 E Mass 12 Enucleation Exophytic (+) Chemotherapy Optic nerve involvement Immediately after enucleation 6

ICR = International Classification of Retinoblastoma; SRF = subretinal fluid.