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An Approach to Visual Loss in a Child
Published in Vivek Lal, A Clinical Approach to Neuro-Ophthalmic Disorders, 2023
Muhammad Hassaan Ali, Stacy L. Pineles
This the most common malignancy in early childhood that presents with leukocoria, esotropia or uveitis is retinoblastoma. Any patient with leukocoria should undergo dilated fundus examination with B-scan ultrasonography of the eye and subsequent orbital imaging to reach the final diagnosis. Retinoblastoma produces characteristic calcifications which are visible on B-scan of the eye. Early detection leads to better treatment with chemotherapy and globe preservation, whereas larger legions need enucleation after which a prosthesis is implanted in the child's eye.
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Published in Samar Razaq, Difficult Cases in Primary Care, 2021
Retinoblastoma is the commonest primary eye tumour in children, accounting for approximately 3% of all childhood cancers. Although it is a life-threatening condition, prognosis is excellent, particularly when identified early, with 98% of children surviving the condition in the UK. However, recent campaigns have unfortunately displayed that there is usually a delay in diagnosis of retinoblastoma. This may be due to a lack of awareness of the presenting signs and symptoms of the condition in primary care or a low index of suspicion. Important signs and symptoms include an absence of the red reflex, an intermittent white pupillary reflex (leukocoria), strabismus, change in the colour of the iris, a worsening of vision and unexplained redness and soreness of the eye. A delayed diagnosis increases the risk of extraocular disease and the need for more aggressive treatment. Recent advances in genetics have revealed a genetic form of retinoblastoma linked to mutations in the RB1 gene. Children with this hereditary form of retinoblastoma are at increased risk of developing other forms of cancer later in life. These may occur anywhere in the body. Patients should be advised to avoid smoking and ultraviolet light (because of the risk of malignant melanoma). Extra care should be taken to avoid unnecessary irradiation from X-rays, because of the increased risk in cancer.
Haematology and oncology
Published in Jagdish M. Gupta, John Beveridge, MCQs in Paediatrics, 2020
Jagdish M. Gupta, John Beveridge
9.35. Which of the following statements about retinoblastoma is/are true?Systemic metastases are usually present at diagnosis.It often presents with leukocoria.It may be bilateral.Some cases are doininantly inherited.It has a 50% overall mortality in Western countries in spite of the best available treatment.
OCT Imaging in Infants
Published in Seminars in Ophthalmology, 2022
Sushma Jayanna, Subhadra Jalali, Tapas R Padhi, Komal Agarwal, Jay Chhablani
Retinoblastoma is one of the common intraocular tumors in children below the age of one year. It is one of the important differentials to be ruled out in children presenting with leukocoria as is not only sigh threatening but also life-threatening condition and requires proper timely intervention. Ultrasound B scan, CT scans and MRI head and orbit helps in making an accurate diagnosis. In a high-risk baby with genetic susceptibility, OCT helps in localization and diagnosis of possible tumors, which can be peripapillary or perifoveal in location. These tumors can be intraretinal involving either inner retinal layer with intact Retina nerve fiber layer (RNFL) or can extend to the entire thickness of the retina. Calcified tumor and preretinal seeds can also be picked up in OCT which appears as hyperreflective lesions with back shadowing. Reduction of subretinal fluid and size of the lesion post treatment can also be monitored using OCT.23,31–33
Hypopyon: Is-it Infective or Noninfective?
Published in Ocular Immunology and Inflammation, 2021
Imen Ksiaa, Nesrine Abroug, Anis Mahmoud, Hager Ben Amor, Sonia Attia, Sana Khochtali, Moncef Khairallah
Retinoblastoma accounts for the most common intraocular tumor among young children. Commonly, 90% of patients present before the age of 3. The patient presents with white eye with most commonly leukocoria (60% of cases). A pseudo-hypopyon is noted in 11.5% of cases.100 Some other signs may be observed including iris rubeosis, hyphema, buphthalmia, orbital cellulitis, and exophthalmia.101 The “hypopyon” associated with retinoblastoma is characterized by a convex upper limit with iris pearls (Figure 8). Fundus examination reveals features of diffuse infiltrating retinoblastoma. Ocular ultrasound typically demonstrates no mass with hyperechoic vitreous opacities,retinal detachment, and fine calcifications. MRI often reveals retinal detachment without a mass with nodular thickening and abnormal enhancement of the detached retina.101
Incidental neuroblastoma with bilateral retinoblastoma: what are the chances?
Published in Ophthalmic Genetics, 2018
Kelsey Roelofs, Furqan Shaikh, William Astle, Brenda L. Gallie, Sameh E. Soliman
A 7-month old child with bilateral retinoblastoma was referred for management. The father had the history of potential bilateral retinoblastoma with proven retinoblastoma in one eye and a scar in the other, but genetic testing 10 years earlier had not identified a germline RB1 mutation. The child was examined at the referring institution and reported to be free of tumors at age 2 months. The parental negative genetic test and the child free of tumor were misinterpreted to be low risk that did not require frequent examinations. However, leukocoria in the right eye was noticed 5 months later, and bilateral retinoblastoma was diagnosed (Figure 1). The child was otherwise healthy without physical or developmental abnormalities.