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A Stepwise Approach to Leukocoria

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A Stepwise Approach to Leukocoria PEDIATRICS OPHTHALMIC PEARLS A Stepwise Approach to Leukocoria eukocoria, or “white pupil,” is one to the ophthalmologist. 1A 1B of the primary signs of retino- However, red eye removal Lblastoma. However, a number software in modern cameras of other conditions may also present may confound the detec- with leukocoria, and it is critical to tion of leukocoria. Also, if differentiate retinoblastoma from the subject in the photo is these so-called pseudoretinoblastomas looking approximately 15° for proper management.1 Shields and off axis nasally, the optic disc coworkers have reported 27 different shadow can fill the pupil, 1C 1D pseudoretinoblastoma conditions.2 giving a white reflex. Some of the most common include Any patient with an • Coats disease abnormal red reflex should • Persistent fetal vasculature (PFV) be evaluated promptly by • Ocular toxocariasis an ophthalmologist. A red • Familial exudative vitreoretinopathy reflex exam is also warranted (FEVR) at every pediatric visit from RETINOBLASTOMA VS. COATS. (1A) • Retinopathy of prematurity (ROP) birth to 3 years and, later, as part of Leukocoria in retinoblastoma; promi- • Astrocytic hamartoma vision screening. nent vessels dip into the retinal detach- • Vitreous hemorrhage A detailed history, a good ophthal- ment. (1B) Xanthocoria (yellow pupil) in • Coloboma mic exam, and ancillary tests are essen- Coats disease due to retinal exudation. • Endogenous endophthalmitis tial in evaluating patients with leuko- (1C) FA in retinoblastoma shows dilated • Rhegmatogenous retinal detachment coria. This article outlines a practical, and tortuous vessels feeding the hyper- Leukocoria is often first noticed by stepwise approach to identifying key fluorescent tumor compared with (1D) family members or on flash photog- diagnostic findings in retinoblastoma peripheral telangiectasia and capillary raphy, and such images can be helpful and pseudoretinoblastomas. nonperfusion in Coats disease. History at diagnosis of retinoblastoma is quired etiology. Although a detailed history is import- 18 months, and the average age for C. Other symptoms, including pain, ant to provide diagnostic clues, it is Coats disease is 5 years. redness, photophobia, strabismus, not reliable in isolation and must be B. Duration of the abnormal white and blurred vision, should be noted. correlated with findings from the clin- reflex:A review of family photo- II. Past Ocular History ical examination. The following topics graphs can help ascertain if and A. History of retinopathy of prema- should be explored. when the reflex changed. A previ- turity: ROP can present as a white ously normal red reflex decreases pupil due to retrolental fibrous I. History of Present Illness the likelihood of a congenital disease tissue and total retinal detachment. A. Age at onset: The average age such as PFV and suggests an ac- B. Trauma: Ocular trauma can lead to cataract, retinal detachment, or vitreous hemorrhage, any of BY REEMA SYED, MD, AND APARNA RAMASUBRAMANIAN, MD. EDITED BY which can produce an abnormal Aparna Ramasubramanian, MD Aparna Ramasubramanian, SHARON FEKRAT, MD, AND INGRID U. SCOTT, MD, MPH. red reflex. EYENET MAGAZINE • 35 III. Medical History toxocariasis (if child is exposed to tary component. A. Prematurity puppies) or toxoplasmosis (cats). A. Retinoblastoma: Autosomal B. Arthritis: Juvenile inflammato- F. Presence of skin lesions: In- dominant with incomplete pen- ry arthritis (JIA) can cause dense continentia pigmenti can cause etrance (approximately 90%), uveitis that mimics retinoblastoma, skin lesions ranging from vesicles although only 10% of patients with especially diffuse infiltrating retino- to hyperpigmentation to atrophy. retinoblastoma have a family history. blastoma. It may be associated with retinal B. Familial exudative vitreoretinop- C. Prenatal infections: TORCH detachment resulting in leukocoria. athy: FEVR has an autosomal dom- syndrome (which may include G. Other systemic diseases: Tuber- inant inheritance pattern, though toxoplasmosis, other agents, rubella, ous sclerosis (associated with retinal many patients may be asymptomatic. cytomegalovirus, and herpes sim- astrocytomas), endogenous endoph- C. Coloboma: Autosomal dominant plex) may show a white reflex. thalmitis. inheritance of mutation in PAX6 D. Birth trauma IV. Family History. Several conditions gene on chromosome 11 has been E. Exposure to pets: Consider that produce leukocoria have a heredi- noted. Clinical Examination which may be a poor prognostic sign. retinoblastoma. There may be vit- A thorough clinical examination is VI. Strabismus. In about 20% of ritis in toxocariasis and a persistent pivotal to the diagnosis of leukocoria. retinoblastoma cases, strabismus is the hyaloid canal in PFV. Following are important clues for dis- presenting feature. It may also be asso- B. Optic disc: The funnel-shaped tinguishing among conditions. ciated with other diseases that decrease excavated optic nerve head of morn- vision, leading to interruption of the ing glory disc or coloboma (Fig. 2E) I. Laterality fusional mechanism. may cause leukocoria. In PFV, fun- A. Unilateral disease: Retinoblas- VII. Anterior Segment dus findings may include Bergmeis- toma (60%), Coats disease, PFV, A. PFV: Associated findings include ter papilla, a retinal fold from the toxocariasis, vitreous hemorrhage, microphthalmia, microcornea, disc to the periphery, hypoplastic or retinal detachment. shallow anterior chamber, persistent dragged macula, hypoplastic optic B. Bilateral disease: Retinoblastoma tunica vasculosa lentis, cataract, fine nerve, or tractional retinal detach- (40%), FEVR, ROP, astrocytic ham- vessels coursing over the iris to the ment with a stalk to the optic disc. artoma, endogenous endophthalmi- anterior lens surface, and retrolental C. Retinal vessels: In retinoblasto- tis. However, Coats disease may be fibrovascular membrane. ma, the vessels are uniformly dilated bilateral in patients with facioscapu- B. Anterior chamber retinoblastoma: and tortuous (Fig. 1C), but in Coats lohumeral dystrophy, and there have May appear as white, fluffy seeds on disease, the vascular dilation is irreg- been rare reports of bilateral PFV. the iris stroma or layered as pseudo- ular with saccular enlargement (Fig. II. Color of the Reflex hypopyon. 1D), and there may be peripheral A. White pupillary reflex is typical C. Ciliary body medulloepithelioma: telangiectasia. In retinoblastoma, of retinoblastoma (Fig. 1A). Signs include lens coloboma, cata- retinal vessels dip into the detach- B. Yellow pupillary reflex,or xan- ract, glaucoma, and retrolental mass. ment (1A), unlike Coats disease, in thocoria, from exudates and exuda- D. Coats disease: Anterior chamber which they course over the detach- tive retinal detachment is indicative cholesterolosis with free-floating ment (2B). Also, peripheral dragging of advanced stages of Coats disease yellow crystalline cholesterol depos- from fibrovascular proliferation is (Fig. 1B). its in the aqueous. seen in FEVR. C. Blue-gray pupil is commonly E. Iris coloboma: Can be associated D. Retina: seen in congenital cataracts. with choroidal coloboma. 1. Retinoblastoma can present III. Visual Acuity. It is useful to doc- F. Anterior chamber inflammation: in 3 growth patterns: exophytic, ument the visual acuity in verbal chil- Consider JIA uveitis and endoge- which leads to retinal detach- dren. In preverbal children, Teller visual nous endophthalmitis. ment (Fig. 1A); endophytic (Fig. acuity measurements can be obtained. G. Neovascularization of iris and 2A) with vitreous seeding; and IV. Intraocular Pressure. IOP may glaucoma: Can be seen in both the rare diffuse infiltrating type, be elevated in both retinoblastoma and retinoblastoma and Coats disease which grows along the retinal Coats disease secondary to anterior and can also be associated with any layers, without causing retinal segment neovascularization. The IOP long-standing retinal detachment. elevation, and mimics uveitis. can also be elevated in JIA uveitis due VIII. Fundus 2. Coats disease presents as to trabeculitis. A. Vitreous: In Coats disease, the retinal exudation and exudative V. Pupil. It is important to note the vitreous remains clear; while vitre- retinal detachment (Fig. 2B). presence of afferent pupillary defect, ous seeds are present in endophytic Macular exudation may mimic 36 • JULY 2016 retinoblastoma—dif- fibrosis and retinal detachment. 2A 2B ferentiating features 7. Astrocytic hamartoma in include irregular light- tuberous sclerosis presents bulb telangiectasia in the as a flat (Fig. 2F) or elevated peripheral fundus and lesion. It can be differentiated yellow subretinal and from retinoblastoma by its lack intraretinal exudation. A of retinal detachment, lack subretinal gliotic nodule 2C 2D of growth, and the course of in Coats disease can be retinal blood vessels under or mistaken for a solitary around the astrocytic tumor. retinoblastoma lesion. 8. Vitreous hemorrhage can be However, there is no secondary to trauma, posterior feeder vessel or tortu- uveitis, or any of the vascular ous draining vein as in abnormalities noted above. retinoblastoma. Careful examination of the 3. PFV is usually unilat- 2E 2F underlying retina will point eral with a central fibro- toward the diagnosis. vascular stalk emanating 9. Uveal coloboma appears as a from the disc, often with sharply demarcated, glistening retinal detachment (Fig. white, bowl-shaped excavation 2C). in the fundus (Fig. 2E). Unlike 4. Ocular toxocaria- retinoblastoma, no elevated
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