DIFFERENTIAL DIAGNOSIS OF LEUKOCORIA PDF

All rights reserved This article has been cited by other articles in PMC. Abstract Leukocoria in infants is always a danger signal as retinoblastoma, a malignant retinal tumor, is responsible for half of the cases in this age group. More common signs should also be considered suspicious until proved otherwise, such as strabismus, the second most frequent sign of retinoblastoma. Less frequent manifestations are inflammatory conditions resistant to treatment, hypopyon, orbital cellulitis, hyphema or heterochromia.

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Leukocoria is present in over half of all infants presenting with retinoblastoma. Other conditions may also be associated with leukocoria as a presenting symptom, including: congenital malformations e. Retinoblastoma is also the second most prevalent intraocular malignant tumor after uveal melanoma 5. Retinoblastoma is composed of retinoblasts basophilic cells with hyperchromatic nuclei and scanty cytoplasm. Mostly retinoblastomas are undifferentiated, but different degrees of differentiation are present owing to the formation of structures known as rosettes.

The tumor can be endophytic in vitreous and seeding of tumor cells throughout the eye, or it can be exophytic in subretinal space , or it can demonstrate a mixed presentation. Optic nerve invasion can occur with the spread of tumor in subarachnoid space and into the brain. Metastatic spread occurs in regional lymph nodes, liver, lungs, bones, and brain 7.

Formation of tumor occurs when both the copies of the RB1 gene are mutated. Remaining patients present with germline mutations along with the development of multiple tumors. Heritable retinoblastoma: In this type of retinoblastoma, there is a mutation in one of the alleles of the RB1 gene in all body cells. When the second allele has a mutation as a result of some mutagenic event, it leads to the malignant transformation of cells. Due to the presence of the mutation in all cells, a large number of these children develop bilateral and multifocal retinoblastoma.

Non-heritable retinoblastoma: Non-heritable retinoblastomas are unilateral and are not transmitted. There is no risk of non-ocular cancers in these patients. Leukocoria causes Leukocoria is present in over half of all infants presenting with retinoblastoma. Leukocoria differential diagnosis Other conditions may also be associated with leukocoria as a presenting symptom, including 10 : congenital malformations e.

Leukocoria symptoms depend on the underlying cause of leukocoria. Patients with retinoblastoma present mostly within the first year of age in the case of bilateral disease and within 3 years of age in case of unilateral disease. It is important to ask about family history of ocular malignancies. Strabismus: It is the second common presenting feature, and it is therefore important to perform fundus examination in all patients of childhood squint.

Painful red eye: Painful red along with secondary glaucoma and associated buphthalmos can be present. Inflammation: Orbital inflammation resembling pre-septal or orbital cellulitis can also be a presenting feature. Visible extraocular growth Decreased vision Restriction of extraocular movements Metastatic disease: Metastatic disease involving lymph nodes, liver, lungs, brain, and bones is rare before ocular involvement.

Leukocoria diagnosis Direct ophthalmoscopy Red reflex testing with a direct ophthalmoscope is the simplest test, and leukocoria is easily observable. This method serves as a simple screening test Examination under anesthesia Examination under anesthesia is necessary for measuring the corneal diameter, for tonometry, anterior chamber examination with a hand-held slit lamp, fundoscopy, cycloplegic refraction, and documenting all findings. Ultrasound To assess the size of the tumor, to observe calcifications, and it also helps to rule out similar conditions like coats disease.

Wide-Field Photography Wide-field photography is used for analysis, documentation, and helps in the management of retinoblastoma. CT scan CT scans help in the detection of calcifications, but due to radiation risks, it is avoided upon making the primary diagnosis. MRI MRI is useful in the evaluation of optic nerve, extraocular extension, pineoblastoma, and to exclude similar diseases Systemic assessment This includes physical examination, MRI orbit and brain, bone scan, bone marrow aspiration, and lumbar puncture.

Genetic studies Genetic studies of blood samples and tumor tissue from patient and relatives Leukocoria treatment Leukocoria treatment involves treating the underlying cause. Treatment of retinoblastoma involves a multidisciplinary approach involving an ophthalmologist, pediatric oncologist, ocular pathologist, geneticist, allied health professional, and parents. Different treatment modalities employed in the treatment of retinoblastoma are; Chemotherapy is the mainstay of treatment.

It is also used in combination with local therapies. Intravenous carboplatin, etoposide, and vincristine are used in three to six cycles depending upon the grade of retinoblastoma. Single carboplatin or dual agent therapy can also be used and has shown favorable results in selective patients such as bridging therapy to avoid aggressive measures.

Intravitreal melphalan is used in cases of vitreous seeding although it carries a small risk of extraocular dissemination. Chemoreduction is followed by cryotherapy or transpupillary thermal therapy to maximize tumor control. Transpupillary thermal therapy is used mostly for focal consolidation after chemotherapy; however, it can be used as an isolated treatment. Transpupillary thermal therapy has a direct effect but also augments the effects of chemotherapy.

Cryotherapy the triple freeze-thaw technique is an option for pre equatorial tumors without deeper invasion or vitreous seedings. Brachytherapy is used for an anterior tumor when there is no vitreous seeding and in cases of resistance to chemotherapy.

External beam radiotherapy is avoided when possible, especially in the case of heritable retinoblastoma because it can result in a second malignancy. Retinoblastomas are radiosensitive, but adverse effects include cataract, radiation neuropathy, radiation retinopathy, and hypoplasia of orbit Enucleation is performed when there is infiltration of the anterior chamber, neovascular glaucoma, invasion of the optic nerve, and if the tumor comprises more than half of the vitreous volume.

It is also useful when chemotherapy has failed and in cases of diffuse retinoblastoma due to poor visual prognosis and a high risk of recurrence. Recent advances in enucleation techniques now allow the removal of a long segment of the optic nerve under direct vision Extraocular extension Adjuvant chemotherapy for 6 months is given following enucleation when there is retrolaminar or massive choroidal spread. When the extension of the tumor is up to the cut end of the optic nerve at enucleation, or it is through the sclera, then external beam radiation is used.

Follow up Careful follow-up at repeated intervals is required after treatment for early diagnosis of recurrence or development of new tumor, especially in patients with inherited disease. The most critical risk factor associated with poor prognosis is extraocular extension either through the sclera or through the invasion of the optic nerve.

Patients who survive bilateral retinoblastoma are at an increased risk of developing non-ocular malignancies later in life the latent period for the development of the second tumor is usually 9 months. External beam radiotherapy decreases the latent period and increases the risk of the second malignancy in the first 30 years of life.

The most prevalent type of second malignancy is a sarcoma.

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Leukocoria

Vitreous hemorrhage can be seen occasionally with very advanced tumors. As a general rule, retinal traction or cataracts are not seen with untreated retinoblastoma. Anterior segment involvement by retinoblastoma can cause pseudohypopyon or hyphema Fig. In advanced cases, rubeosis iridis, neovascular glaucoma, buphthalmos, and even orbital cellulitis and proptosis may be encountered Fig.

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Causes of White Pupillary Reflex Differential Diagnosis Leukocoria

Dr Adil Ramzan White pupillary reflex is the whitish appearance of pupil. This condition is also known as leukocoria. It can occur in a number of conditions. Following are the causes of white pupillary reflex in early life and these causes must be included in the differential diagnosis. Congenital Cataract A congenital cataract is the congenital opacity of the lens of the eye.

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What is the Differential Diagnosis of Leukocoria?

Posted on by Pediatric Education Patient Presentation A previously full-term, 2-month-old male came to clinic for his health supervision visit. His parents reported that he was doing well including no concerns about his vision or hearing. On his visual examination he showed some turning of his head with the cover test when his right eye was occluded. The anterior chamber and lens appeared normal. The right eye showed a normal red reflex and normal retinal vessels and part of the optic disk.

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