The Final Diagnosis: Retinoblastoma or Pseudoretinoblastoma

Abstract

Purpose: To review the authors' experience in the diagnosis of retinoblastoma and to explore the frequency of intraocular conditions that mimic this malignancy according to patient age at presentation. Methods: This was a retrospective observational study including 549 patients (769 eyes) who were referred for confirmation and/or management of retinoblastoma between October 1998 and June 2019 at a single tertiary center. A detailed ocular examination was done by the same ocular oncologist under general anesthesia for every patient. Results: Of 549 patients referred for diagnostic confirmation or management of retinoblastoma, 393 (71.6%) patients were found to have retinoblastoma and 156 (28.4%) patients received the diagnosis of pseudoretinoblastoma. The mean patient age at presentation was 52.1 months, ranging from 1 to 276 months. The most common diagnoses among patients with pseudoretinoblastoma younger than 1 year were persistent fetal vasculature (PFV) (n = 19; 28.8%), Coats disease (n = 7; 10.6%), chorioretinal coloboma (n = 4; 6.1%), retinal dysplasia (n = 4; 6.1%), and retinal detachment (n = 4; 6.1%). In patients with pseudoretinoblastoma who were 1 to 5 years old, the most common diagnoses were Coats disease (n = 10; 25.6%), PFV (n = 7; 17.9%), and optic disc hypoplasia (n = 3; 7.7%). Patients older than 5 years were most likely to have Coats disease (n = 8; 15.7%), optic disc drusen (n = 5; 9.8%), retinopathy of prematurity (n = 4; 7.8%), and combined hamartoma (n = 4; 7.8%). Conclusions: This study shows that 28.4% of patients referred for suspicion or management of retinoblastoma were classified as having pseudoretinoblastoma. The most common conditions causing diagnostic confusion with retinoblastoma included PFV and Coats disease, similar to previous publications from both high-and low-income countries. [ J Pediatr Ophthalmol Strabismus . 2021;58(3):161–167.]

Improving Medical Students’ Awareness About Retinoblastoma: A Practical Strategy

“…Multiple diseases (called pseudo-retinoblastoma) may affect children, like ocular toxocariasis (infectious disease), persistent fetal vasculature (a rare congenital developmental anomaly of the eye), Coats’ disease (characterized by abnormal development of the blood vessels in the retina), and retinopathy of prematurity. 2 , 8 , 9 …”

“…Unfortunately, leukocoria, which is seen when the tumor is large in size, is the most frequent presenting sign (50–60% of cases), followed by strabismus (25%) and ocular inflammation (6–10%). 8–11 Thus, signs of disease present when the tumor is already large in size, and this should be recognized immediately by medical caregivers to avoid more advanced stages at diagnosis.…”

“…The second and third most common presenting signs are strabismus (25%) and ocular inflammation (6–10%). 8–11 These alarming signs are very important to be recognized by health care givers to avoid delayed diagnosis. Unfortunately, a previous questionnaire about the level of knowledge about RB and its presenting signs among first contact physicians in Jordan showed a major deficiency in knowledge about the need for immediate referral of patients with signs of RB.…”

The clinical diagnostic value of plasma miR-592 and miR-217-3p levels in retinoblastoma

“…According to statistics, about 9,000 newborns are diagnosed with Rb each year, and about 3,000 children die of Rb (36,37). Therefore, finding biomarkers for early diagnosis of Rb is of great significance to improve the diagnosis and treatment of Rb and the prognosis of children (38). This study aims to evaluate the abnormal expression of plasma miR-592 and miR-217-3p in Rb patients and explore the clinical diagnostic value of their expression levels for Rb.…”

Retinoblastoma in Adults: Clinical Features, Gene Mutations and Treatment Outcomes: A Study of Six Cases

“…The diagnosis of RB should be considered in adults with an amelanotic whitish mass lesion (pseudoretinoblastoma) ( 10 , 11 ) in the fundus. However, it remains a challenge due to its rarity.…”