Spotlight Case: Years Later, You're Still the Same
A 63-year-old female presents for a scheduled follow-up examination. She reports being blind OD for over 40 years and having stable vision OS. She denies any significant medical history, including no history of diabetes mellitus or hypertension. Ocular family history is significant for a son with a retinal disorder.
Best corrected visual acuity is no light perception OD and 20/30 OS. Pupil examination reveals an afferent pupillary defect OD. Intraocular pressures are 9 OD and 17 OS. External examination is remarkable for a 40-diopter exotropia. Fundus photographs of OS and ocular coherence tomography of the temporal retina are shown in Figures 1-3.
What’s your diagnosis?
This patient was diagnosed by J. Donald M. Gass, MD, with familial exudative vitreoretinopathy (FEVR) in 1970 at the age of 25. OD had a total retinal detachment with light perception vision at the time. OS has been successfully observed for more than 40 years and the patient has retained excellent visual acuity. Original photographs and retinal diagrams from Dr. Gass are shown in Figures 4-6.
FEVR is a vitreoretinal dystrophy characterized by premature arrest and incomplete vascularization of the peripheral retina. It was first presented by Criswick and Schepens at Retina Society in 1968 and published in the American Journal of Ophthalmology in 1969 by the same investigators.[1-4] The case presented here was likely one of the first recognized cases of FEVR. FEVR is most commonly inherited in an autosomal dominant fashion, although autosomal recessive and x-linked recessive inheritance patterns have been described. Genetic mutations associated with FEVR have been shown to involve various ligands or receptors in the Wnt signaling pathway.
Characteristic features of FEVR include[1-4]:
- Familial inheritance
- Bilateral vascular involvement
- Heterotopia of the macula with temporal traction
- Organized vitreous membranes
- Incomplete peripheral retinal vascularization.
Patients may present with retinal neovascularization and/or vitreous hemorrhage. Retinal folds were identified in 28% of patients in a large retrospective series by Ranchod et al. While retinal folds are most commonly located temporally, they may be seen in all quadrants, and up to 6% of patients with FEVR may have a retinal fold that runs from the posterior pole to the lens. Patients may present with exudative, tractional, or rhegmatogenous retinal detachment. In one prospective study of patients with FEVR and their immediate family members, 30% of patients developed a retinal detachment. Up to 64% of patients with FEVR referred to pediatric retina specialists present with some degree of retinal detachment and up to 14% present with total retinal detachment.
Pendergast and Trese suggested the following staging classification for FEVR :
- Stage 1 – Avascular retinal periphery without extraretinal vascularization
- Stage 2 – Avascular retinal periphery with extraretinal vascularization
2A – Without subretinal or intraretinal exudate
2B – With subretinal or intraretinal exudate
- Stage 3 – Subtotal retinal detachment not involving the fovea
3A – Primarily exudative
3B – Primarily tractional
- Stage 4 – Subtotal retinal detachment with foveal involvement
4A – Primarily exudative
4B – Primarily tractional
- Stage 5 – Total retinal detachment
5A – Open funnel
5B – Closed funnel
Patients with stage 1 disease are managed with observation. Peripheral retinal laser ablation should be considered in patients with stage 2 disease and may also be successful in select patients with stage 3 or 4A disease. Scleral buckling and laser ablation for repair of retinal detachment can be successful in some patients with stage 3A or even 4A disease, but pars plana vitrectomy is most often required for repair of retinal detachment in patients with stage 3B, 4B and 5 disease.[2-4, 6] Temporal dragging of the macula may provide a clue that the patient has strong vitreoretinal adhesions, and thus, pars plana vitrectomy may be required for successful retinal detachment repair.
Anti-vascular endothelial growth factor therapy has also demonstrated efficacy in select patients, but further investigation is required, as certain patients may develop worsening of tractional retinal detachment with this treatment modality.
The prognosis for FEVR patients presenting with retinal detachment is guarded and recurrent retinal detachment is common after surgery. Retrospective studies on surgical repair of retinal detachment in FEVR have demonstrated final macular reattachment rates of 62-85% and statistically significant visual acuity gains.[2,6]
- Criswick VG, Schepens CL. Familial exudative vitreoretinopathy. Am J Ophthalmol. 1969:68(4):578-594.
- Pendergast SD, Trese MT. Familial exudative vitreoretinopathy: results of surgical management. Ophthalmol. 1998;105(6):1015-1023.
- Ranchod TM, Ho LY, Drenser KA, Capone A, Trese MT. Clinical presentation of familial exudative vitreoretinopathy [published online August 25, 2011]. Ophthalmol. 2011;118(10):2070-2075. doi:10.1016/j.ophtha.2011.06.020.
- Shukla D, Singh J, Sudheer G, et al. Familial exudative vitreoretinopathy (FEVR): clinical profile and management. Indian J Ophthalmol. 2003;51(4):323-328.
- Warden SM, Andreoli CM, Mukai S. The Wnt signaling pathway in familial exudative vitreoretinopathy and Norrie disease. Semin Ophthalmol. 2007;22(4):211-217.
- Ikeda T, Fujikado T, Tano Y, et al. Vitrectomy for rhegmatogenous or tractional retinal detachment with familial exudative vitreoretinopathy. Ophthalmol. 1999;106(6):1081-1085.
- Sisk RA, Berrocal AM, Albini AT, Murray TG. Bevacizumab for the treatment of pediatric retinal and choroidal diseases [published online August 30, 2010]. Ophthalmic Surg Lasers Imaging. 2010;41(6):582-592. doi:10.3928/15428877-20100830-03.
Dr. Henry - None.
Dr. Flynn – SANTEN: Consultant.
Dr. Albini - ALLERGAN, INC: Consultant, Honoraria; BAUSCH + LOMB, INC: Consultant, Honoraria; GENENTECH, INC: Grants, Other.
Dr. Hau - SEQUENOM: Speaker, Honoraria; THROMBOGENICS, INC: Other, Honoraria.
Dr. Choudhry - None.