1 post published by pediatriceducationmin on January 2, There are many causes of leukocoria in children (table 1); the differential diagnosis can be narrowed through a complete clinical and family. Differential Diagnosis of Leukocoria. Jerry A. Shields and Carol L. Shields. ETINOBLASTOMA is a highly malignant. R intraocular tumor of childhood that re-.

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However, a number of other diagnoss may also present with leukocoria, and it is critical to differentiate retinoblastoma from these so-called pseudoretinoblastomas for proper management. In the long differenttial, enucleation may be inevitable due to terminal glaucoma, intra-ocular hemorrhage, retinal detachment, uveitis or phthisis bulbi. Magnetic resonance imaging MRI is ideal for detecting any budding asymptomatic tumor of the pineal gland or optic chiasma in hereditary bilateral multifocal cases trilateral retinoblastoma.

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Differential diagnosis of leukocoria and strabismus, first presenting signs of retinoblastoma

The role of the primary care physician Whether the family doctor or pediatrician, the primary care physician is usually the first to be confronted with the problem and thus diagbosis an essential role, as the evolution and ultimate outcome of the disease will depend on the speed of reaction at this initial stage.

Whether the family doctor or pediatrician, the primary care physician is usually the first to leukoocria confronted with the problem and thus plays an essential role, as the evolution and ultimate outcome of the disease will depend on the speed of reaction at this initial stage. The most feared cause of a white reflex in the pupil is retinoblastoma, the most common intraocular tumor of childhood.

In preverbal children, Teller visual acuity measurements can be obtained. Rhegmatogenous most common — where a hole or tear in the retina develops with build up of fluid underneath the retina and subsequent lifting of the retina away from the underlying tissues Dianosis second most common — where the retina is pulled away from the underlying tissues Exudative — where subretinal fluid accumulates between the retina and the underlying tissues Learning Point Leukocoria can be caused by congenital or acquired eye diseases.


Factors relating to the diagnosis of retinoblastoma. First signs The primary sign is leukocoria. First manifestations usually occur in early childhood, occasionally in the adult, with leukocoria, poor vision and typically a vascularized iris mass, this greyish or salmon-colored, in some cases pigmented. Depending on the clarity of the media, first signs, stage of disease, frequency, the diagnsis and gravity of complications associated with spontaneous evolution, the approach to differential diagnosis will be differehtial according to whether diagnosis is simple, difficult or concerns rare diseases.

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. News, Tips, Resources Morning Rounds: Health care services aimed at preventing health problems or maintaining health are provided.

Unlike retinoblastoma, no elevated mass is seen. Shorter time to diagnosis and improved stage at presentation in Swiss patients with retinoblastoma treated from to Although he had no obvious physical abnormalities associated with a congenital syndrome, he was referred to genetics for consultation.


Sign in via OpenAthens. Subretinal fluid and retinal detachment without a solid retinal mass Fig.

Syed is an ophthalmology resident, and Dr. A statistical survey of children. This is the diffuse infiltrating, or plaque-like form of retinoblastoma Morgan Introduction Retinoblastoma represents the greatest challenge in the field of ophthalmology.

According to the literature, the mean frequency of retinoblastoma is one in 20, live births Balmer and Munier b with no sex, race or geographic predilection and no known exogenous risk factors apart from the age of the parents, in particular that of the father DerKinderen et al ; Matsunaga et al These are very late signs carrying a far more reserved vital and functional prognosis.


Autosomal dominant inheritance of mutation in PAX6 gene on chromosome 11 has been noted. Occasionally, a retinal macrocyst may be seen.

Medulloepithelioma of the retina. Cultures may be confirmatory. Retinoblastoma and the Differential Diagnosis of Leukocoria.

Massive gliosis of the retina.

FA with Retcam photography is useful in evaluating children with leukocoria. Trauma Contusion of the globe Intraocular foreign body Shaken baby syndrome. The tumor may be polycystic and cystic leukocorai may be found liberated into the aqueous humor or vitreous body. National Center for Biotechnology InformationU. Inflammatory diseases Ocular toxocariasis Congenital toxoplasmosis Congenital cytomegalovirus retinitis Herpes simplex retinitis Other types of fetal iridochoroiditis Pseudo-uveitis Endophthalmitis.

Retinoblastoma is diagnosed in 47 percent of children who are leukociria with leukocoria to tertiary centers. Clinical variations and complications of Coats disease in cases: Severe vitreous hemorrhage following trauma may transform into a massive retinal gliosis and even develop calcifications Yanoff et al Leukocoria may be present from stage 3 onwards.

Persistent hyaloid remnants in PFV Fig.

Primary or secondary retinal detachment may further complicate the assessment. The average age at diagnosis of retinoblastoma is 18 months, and the average age for Coats disease is 5 years. Survivors may be severely handicapped by lesions of the posterior pole affecting central visual function.

Preschool or school-age children are most often affected and the first manifestations are usually exophthalmia and loss of vision Dutton,Hamelin et al Other causes of leukocoria are slightly more common but exact estimates of their incidence are not available. Precise diagnosis ensures appropriate and early fo to prevent irreversible blindness from primary pathology, secondary amblyopia, or life-threatening malignancies.