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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.
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.
My Baby Has a White Pupil in This Photograph and/or Has a Squint
Published in Amy-lee Shirodkar, Gwyn Samuel Williams, Bushra Thajudeen, Practical Emergency Ophthalmology Handbook, 2019
Leukocoria: Refers to an abnormal white appearance to the pupillary area (see Figure 19.1). In reality, referrals may not necessarily be due to leukocoria, but due to an absent or difference in the red reflex appearance between each eye. An absent red reflex, or reduced red reflex (whether they be white or not) also needs to be seen to exclude a potential treatable cause.
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
Identification of a novel nonsense variant in FYCO1 gene associated with infantile cataract and cortical atrophy
Published in Ophthalmic Genetics, 2021
Raffi Aprahamian, T. Yammine, N. Salem, M. Souaid, H. Mansour, C. Farra
Clinical examination revealed no dysmorphic features or physical abnormalities. Furthermore, no developmental delay was reported. While general physical aspect and assessment were apparently within normal range, brain MRI showed the presence of a moderate frontal bilateral cortical atrophy with enlarged aspect of the right and left frontal cortical furrows. No other detectable malformation in the corpus callosum, ventricular system, or sylvian valleys were noted. The external appearance of the eyes was normal with absence of lesions of the individualizable optic nerves and chiasma. Abdominal ultrasound as well as brain CT scan showed no malformations. Pupillary light reflexes were abnormal, showing leukocoria in both eyes. Lack of ability to stare at and follow objects adequately, except when they are very bright and present on the left lateral side of the head, was also noted. Upon inspection, lenses in both eyes showed opacity suggestive of cataract.
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