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LARGEST STUDY ON CHINESE AMERICANS PUBLISHED

LARGEST STUDY ON CHINESE
AMERICANS PUBLISHED

USC Ophthalmology Researchers Find More
Effective Treatments For Blinding Eye Diseases

EDUCATION

Case Study: You Give Me…

Haghighi Kashani
Presenter: Arezu Haghighi, MD Discussant: Amir Kashani, MD, PhD
 

History

  • 22-year-old male with history of retinal detachment repair OD as a 5-year-old child, seen for a second opinion regarding decreased vision in that eye since the surgery

Exam Findings

  • VA 20/100 OD with external examination only notable for focal lens opacity posteriorly at one o’clock
  • Dilated fundus exam notable for retinal fold extending superonasally from the disc as well as vascular dragging causing foveal displacement
Figure 1
Figure 1: Color fundus photo. A. OD showing retinal fold extending superonasally from the disc with vascular dragging and foveal displacement B. OS normal.

 

Differential Diagnosis

  • Familial exudative vitreoretinopathy (FEVR)
  • Retinopathy of Prematurity (ROP)
  • Persistent hyperplastic primary vitreous (PHPV)
  • Coat’s disease
  • Toxocariasis
  • High myopia
  • Retinoblastoma (Rb)

Additional Investigations

  • OCT macula showing outer retinal atrophy as well as inner retinal folds and distortion in the affected eye OD (see Figure 2), while OCT macula OS normal
Figure 2
Figure 2: A. OCT macula OD showing outer retinal atrophy as well as foveal distortion. B. OCT macula OS normal.

 

Diagnosis

  • FEVR (Familial Exudative Vitreoretinopathy)

Pathophysiology

  • Driven by fibrovascular changes as a result of peripheral avascular retina with progression through five clinical stages
  • Associated with mutations in the Wnt pathway
  • Important to distinguish from ROP, as FEVR (no history of prematurity or low birth weight) can re-activate later in life while ROP has an involutional natural history
Figure 3
Figure 3: FEVR clinical staging.

 

Treatment

  • Laser ablation of avascular retina in stage 1-2A disease; scleral buckle vs vitrectomy (lens-sparing vs non-lens sparing approach) for more advanced stages of disease
Figure 4
Figure 4: Fluorescein angiography findings in stage 2 FEVR: A. anomalous circumferential vessels B. expanded view C. supranumerary vascular branching D. expanded view E. disc leakage, macular aneurysms and bulb-like telangiectatic vascular endings.

 

Prognosis and Future Directions

  • Risk of re-activation and disease progression later on in life (has been observed up through the age of 40)
  • Importance of screening asymptomatic family members: study by Kashani et al., up to 58 percent of asymptomatic family members had stage 1 or 2 FEVR and 21 percent had stage 3, 4, or 5 FEVR
  • Screening most effectively done through fluorescein angiography to detect early stage 2 changes (see Figure 4)

References

  • Trese MT, Kashani AH. Advances in the diagnosis, management and pathophysiology of capillary nonperfusion. Expert Rev Ophthalmol. 2012;7(3):281-292.
  • Kashani AH, et al. High Prevalence of Peripheral Retinal Vascular Anomalies in Family Members of Patients with Familial Exudative Vitreoretinopathy. Ophthalmology. 2014 Jan;121(1):262-268.
  • Kashani AH, et al. Diversity of Retinal Vascular Anomalies in Patients with Familial Exudative Vitreoretinopathy. Ophthalmology. 2014 Nov;121(11):2220-7.
  • Pendergast SD, Trese MT. Familial Exudative Vitreoretinopathy. Results of Surgical Management. Ophthalmology. 1998 Jun;105(6):1015-23.
  • Ranchod TM, et al. Clinical Presentation of Familial Exudative Vitreoretinopathy. Ophthalmology. 2011 Oct;118(10):2070-5.
  • The International Classification of Retinopathy of Prematurity Revisited. Arch Ophthalmol. 2005;123(7):991-999.
  • Jeng-Miller KW, et al. Fluorescein Angiography in Persistent Fetal Vasculature. Ophthalmol. 2017 Apr;124(4):455.z
  • Shastry BS. Persistent hyperplastic primary vitreous: congenital malformation of the eye. Clin Exp Ophthalmol. 2009 Dec;37(9):884-90.

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Produced by: Monica Chavez, John Daniel, Joseph Yim and Dr. Vivek Patel
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