No losing an eye/need for enucleation or evisceration
Social history
No pets at home
No exposure to smoking or alcohol
No recent trauma
Exam Findings
Anterior Segment: unremarkable OU
Posterior Segment visualization:
OD: unremarkable
OS
Total retinal detachment
Retinal vessel telangiectasia
No mass seen
Yellow exudate
No other structures are able to be visualized
Figure 1: The next step was fluorescein angiography. To orient ourselves, this is a photo of what was seen on the visual exam.
Differential Diagnosis
Retinoblastoma*
Coats’ disease
Persistent fetal vasculature
Retinopathy of prematurity
Familial exudative vitreoretinopathy
Astrocytic hamartoma
Additional Investigations
Ultrasound
Funnel retinal detachment
Subretinal exudate
Absence of mass
Absence of calcifications
Figure 2: B-scan ultrasound of the eye.Figure 3: A close-up image of one retinal billowing showing thick, telangiectatic vessels and significant ischemia throughout the entire retina.
Diagnosis
Coats’ disease
Pathophysiology
As far as etiology of the diseases, none is known, but the disease process is consistent with a problem in the development of retinal vasculature.
Not associated with race, systemic disease, family history
Perhaps related to Norrie disease or other retinal aneurysmal diseases
Treatment
Stage determines treatment options
Early stage: phototherapy, cryopexy
Later stage: surgical drainage, complex vitreoretinal procedures
End stage: observe, pain management, enucleate
Use of anti-VEGF agents and steroids is controversial
Prognosis and Future Directions
The vessels of the retina become weak leading to vessel telangiectasis and aneurysm formation.
The vessels also become quite leaky, leading to lipid and cholesterol exudates. There is a possibility for accumulation of subretinal and intraretinal lipid exudate
Eventually, by mass effect, the subretinal fluid can lead to partial, then total retinal detachment
Leukocoria: Clinical Workflow
Pseudo-leukocoria vs leukocoria
Comprehensive office exam
History
Dilated fundus exam (speculum exam below age one if indications for EUA not met)
B-scan ultrasound
EUA is indicated if
History suggests significant risk
Any suspicious findings are noted on office exam
Clinical features of retinoblastoma that can stimulate other diagnoses
Complete retinal detachment
Vitreous hemorrhage
Orbital cellulitis
Subretinal crystals
Subretinal lipid
Uveitis/pseudohypopyon
Hyphema/AS crystals
NVG/buphthalmia
Not seen: retinal traction/cataract
Helpful clinical signs: seeding/calcification
Clinical features of persistent fetal vasculature (PFV)/persistent hyperplastic primary vitreous (PHPV)
Unilateral
Congenital/at birth
Non-familial (sporadic)
Microphthalmos
Cataract
Retrolental mass
Stalk in posterior segment
Elongated ciliary processes
Pediatric retrolental mass differential diagnosis
PHPV/PFV
Unilateral
No other systemic findings, sporadic
Nonperfusion/traction in other eye
Familial exudative vitreoretinopathy (FEVR)
Autosomal dominant, asymmetric
Isolated ocular findings
Incontinentia pigmenti
Females only, X-linked dominant
Skin lesions, teeth, bone, CNS abnormalities
Norrie disease
Males only, X-linked recessive, often symmetric
Mental retardation, deafness
NDP gene (norrin protein) may be involved in FEVR/Norrie/PHPV/Coats’
Retinoblastoma (RB) vs Coats’ disease: fluorescein angiography findings
Intraocular mass: RB (but not always present in RB)
Classic telangiectasia: Coats’
Telangiectasia with retinal tumor infiltration: RB
Intrinsic tumor vasculature: RB
Older patients/unilateral/male: Coats’
Vitreous seeding: RB
Lipid exudation/retinal ischemia: both RB and Coats’
Diagnostic testing: B-scan, MRI (not FNAB), FA
References
Bhat V, D’Souza P, Shah PK, Narendran V. Risk of Tractional Retinal Detachment Following Intravitreal Bevacizumab Along with Subretinal Fluid Drainage and Cryotherapy for Stage 3B Coats’ Disease. Middle East African Journal of Ophthalmology. 2016 Apr-Jun;23(2):208-211.
Gaillard MC, Mataftsi A, Balmer A, Houghton S, Munier FL. Ranibizumab in the Management of Advanced Coats’ Disease Stages 3B and 4: Long-Term Outcomes. Retina. 2014 Nov;34(11):2275-2281.
Kaul S, Uparkar M, Mody K, Walinjkar J, Kothari M, Natarajan S. Intravitreal Anti-Vascular Endothelial Growth Factor Agents as an Adjunct in the Management of Coats’ Disease in Children. Indian Journal of Ophthalmology. 2010 Jan-Feb;58(1):76-78.
Lin C J, Hwang JF, Chen YT, Chen SN. The Effect of Intravitreal Bevacizumab in the Treatment of Coats’ Disease in Children. Retina. 2010 Apr;30(4):617-622.
Othman IS, Moussa M, Bouhaimed M. Management of Lipid Exudates in Coats’ Disease by Adjuvant Intravitreal Triamcinolone: Effects and Complications. Br J Ophthalmol. 2010 May;94(5):606-610.
Ramasubramanian A, Shields CL. Bevacizumab for Coats’ Disease with Exudative Retinal Detachment and Risk of Vitreoretinal Traction. Br J Ophthalmol. 2012 Mar;96(3):356-359.
Ray R, Barañano DE, Hubbard GB. Treatment of Coats’ Disease with Intravitreal Bevacizumab. Br J Ophthalmol. 2013 Mar;97(3):272-277.
Shields JA, Shields CL, Honavar SG, Demirci H. Clinical Variations and Complications of Coats’ Disease in 150 Cases: The 2000 Sanford Gifford Memorial Lecture.” Am J Ophthalmol. 2001 May;131(5):561-571.
Shields JA, Shields CL, Honavar SG, Demirci H, Cater J. Classification and Management of Coats’ Disease: The 2000 Proctor Lecture.” Am J Ophthalmol. 2001 May;131(5):572-583.
Zhao Q, Peng XY, Chen FH, Zhang YP, Wang L, You QS, Jonas JB. Vascular Endothelial Growth Factor in Coats’ Disease. Acta Ophthalmol. 2014 May;92(3):e225-8.
Contact
Jonathan Kim, MD, Associate Professor of Clinical Ophthalmology, A. Linn Murphree Professor and Director of the Ocular Oncology Service, jonathan.kim@med.usc.edu
