| Retinoblastoma | |
|---|---|
 | |
| A retinoblastoma as seen in an fundoscopy | |
| Specialty | Neuro-oncology |
| Symptoms | White pupillary reflex, crossed eyes, redness of the eye, decreased vision[1] |
| Complications | Metastasis, secondary cancer[1] |
| Usual onset | First 3 years of life[1] |
| Causes | Mutations of the RB1 tumor suppressor gene[1] |
| Diagnostic method | Eye exam, medical imaging[2] |
| Differential diagnosis | Cataract, retinopathy of prematurity, toxocariasis, choroidal coloboma, vitreous hemorrhage[3] |
| Treatment | Photocoagulation, cryotherapy, radiation therapy, chemotherapy, eye removal[2] |
| Prognosis | Variable[2][1] |
| Frequency | 1 in 18,000 children[1] |
Retinoblastoma (Rb) is a type eye cancer that forms from the retina.[2] Symptoms may include a white pupillary reflex, crossed eyes, redness of the eye, and decreased vision.[1] Onset is generally in the first 3 years of life.[1] Complications may include spread to other parts of the body.[1]
It occurs due to mutations of the RB1 tumor suppressor genes found on chromosome 13 at locus 14 (13q14).[1] In about 5% of cases a single mutation is inherited from a persons parents; while in 95% of cases it occurs as a new mutation during early development.[1] The second gene than becomes mutated later in life.[2] In about 40% of new mutations it also affects the child's germline.[1] Diagnosis is based on an eye exam and medical imaging.[2]
Treatment depends on the size of the cancer.[2] Small cancers may be managed with photocoagulation, cryotherapy, and radiation therapy; while in large cancers the eye is removed.[2] Chemotherapy may also be used.[2] With early treatment more than 90% of cases are curable, with most keeping some ability to see.[2][1] For those whose cancer has spread, outcomes are poor.[2]
Retinoblastoma affects about 1 in 15,000 to 30,000 people (5,000 to 8,000 cases per year globally).[2][4] It represents about 3% of childhood cancers.[1] The first modern description is from 1597 by Pieter Pauw; though a sculpture of the disease is believed to date back nearly 2000 years in Peru.[4] It was recognized to result from the retina in 1809 by James Wardrop.[5]
References
edit- ^ a b c d e f g h i j k l m n Ishaq, H; Patel, BC (January 2022). "Retinoblastoma". PMID 31424860.
{{cite journal}}: Cite journal requires|journal=(help) - ^ a b c d e f g h i j k l "Retinoblastoma - Pediatrics". Merck Manuals Professional Edition. Archived from the original on 2 February 2022. Retrieved 15 July 2022.
- ^ "Retinoblastoma - EyeWiki". eyewiki.aao.org. Archived from the original on 15 June 2022. Retrieved 18 July 2022.
- ^ a b Merchant, Thomas E.; Kortmann, Rolf-Dieter (1 March 2018). Pediatric Radiation Oncology. Springer. p. 132. ISBN 978-3-319-43545-9. Archived from the original on 29 July 2022. Retrieved 18 July 2022.
- ^ Ramasubramanian, Aparna; Shields, Carol L. (31 July 2012). Retinoblastoma. JP Medical Ltd. p. PR29. ISBN 978-93-5025-784-5. Archived from the original on 29 July 2022. Retrieved 18 July 2022.