Coats Disease (Grand Rounds)

From EyeWiki
Original article contributed by: Jesse L. Berry, MD
All contributors: Jesse L. Berry, MD
Assigned editor:
Review: Assigned status Up to Date by Jesse L. Berry, MD on June 6, 2017.


RB title.JPG

History

  • 3-month-old male
  • Leukocoria OS at pediatric ophthalmologist office
  • Referred for possible retinoblastoma
  • Past medical history
    • Full term at 41 weeks
    • Spontaneous vaginal delivery
    • No congenital anomalies
  • Past surgical history
    • None
  • Past ocular history
    • None
  • Family history (immediate)
    • No childhood blindness
    • 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
RB 1.jpg

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
RB 2.jpg

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 not noted on the 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
    • RB: Small vessel changes
    • Telangiectasia
    • Microaneurysms
    • Intraretinal microvascular abnormalities
    • A-V shunts
    • Nonperfusion
    • Only in areas of tumor infiltration
    • Retcam fluorescein angiography (FA): Intrinsic tumor vessels
    • Vessels with bizarre branching patterns
    • No connection to retinal vasculature
  • Retinoblastoma vs Coats' disease: Summary
    • Calcification: RB
    • 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
  • Nakul Singh, visiting medical student, nxs350@case.edu