Purpose
To evaluate various surgeries for treating retinal detachment (RD) associated with familial exudative vitreoretinopathy (FEVR).
Design
Retrospective, interventional case series.
Methods
The charts of 22 patients who underwent surgery were reviewed. A complete ophthalmic examination was performed including wide-field fundus images with fluorescein angiography. The primary and secondary outcomes were fundus features (vascular activity of the fibrovascular proliferation and extent of tractional RD) and visual acuity (VA), respectively.
Results
Thirty-one eyes were included (12 eyes underwent scleral buckling, 1 scleral buckling and vitrectomy, 7 vitrectomy alone, and 11 lensectomy and vitrectomy). Twenty-six eyes were reattached during 1 surgery. Scleral buckling resulted in cessation of fibrovascular proliferation and retinal reattachment; only 1 of these eyes required vitrectomy. Lens-sparing vitrectomy resulted in stabilized fibrovascular proliferation and retinal reattachment. Vitrectomy with lensectomy did not achieve retinal reattachment in 4 eyes. Fibrovascular proliferation has a rich vascular component in patients younger than 3 years, and collagen fibers were present mainly with more advanced age. The postoperative VA improved in 5 of 8 eyes examined, was unchanged in 1 eye, and decreased in 2 eyes with macular involvement.
Conclusions
FEVR-induced RDs are highly variable and require careful preoperative evaluation to determine the best surgical procedure. Vitrectomy with release of posterior traction is essential in younger patients with vascularly active fibrovascular proliferation, whereas scleral buckling may be important for cases with peripheral traction anterior to the equator. In all cases, peripheral thermal treatment applied to all ischemic areas contributed to reduced peripheral neovascularization.
Familial exudative vitreoretinopathy (FEVR) is a hereditary vitreoretinal abnormality with diverse fundus findings similar to those of retinopathy of prematurity (ROP). Mild FEVR is characterized by insufficient vascular development, areas of avascularity, and degeneration in the peripheral retina with a generally normal posterior retina. In contrast, the severe form includes fibrovascular proliferation, tractional retinal detachment (RD), and radial retinal folds, which result in serious visual impairment in children.
The retinal changes in FEVR may progress throughout childhood; however, the peak age and pathologic conditions remain unknown. Disease onset may be in the prenatal stage when retinal vessels develop; and the active phase, and progression of fibrovascular proliferation and tractional RD, generally ends by the time of birth, leaving scarring. However, in some cases the disease continues after birth or reoccurs during the growth years. We previously investigated the natural course of congenital retinal folds associated with FEVR and showed that fibrovascular proliferation recurred and tractional RD developed in 21.7% of affected eyes.
Despite the fact that this disease threatens vision in children, few studies have investigated the clinical characteristics and surgical treatment of FEVR, especially in patients with progressive proliferation that continues after birth.
We report the surgical outcomes of tractional RD associated with FEVR that occurred after birth.
Patients and Methods
This retrospective, interventional case study was approved by the ethics committee of the National Center for Child Health and Development, Tokyo, Japan. It was in compliance with the tenets of the Declaration of Helsinki. Written informed consent was obtained from all parents of participants.
Thirty-one eyes of 22 patients (12 girls, 10 boys) with FEVR underwent vitreoretinal surgery at the National Center for Child Health and Development between August 1, 2003 and September 31, 2011, when the fibrovascular proliferation continued to progress after birth or reoccurred during patient observation. Vascular activity of fibrovascular proliferation was determined by fundus fluorescein angiography (FA) and continuous series of fundus photography. Eyes were excluded when fibrovascular proliferation had stabilized, a total RD was present that was diagnosed as cicatricial during the initial examination, or a rhegmatogenous RD was present. The same surgeon (N.A.) performed all surgeries.
Scleral buckling first was performed in eyes with fibrovascular proliferation that was present in the extreme peripheral retina and extended circumferentially for fewer than 2 quadrants. In all eyes, an encircling buckle was placed under the fibrovascular proliferation using a silicone sponge that was 2–3 mm in diameter or 3 × 5 mm. The silicone sponge was removed or cut when fibrovascular proliferation was confirmed to have stabilized to prevent constriction of the growing eyeball.
Photocoagulation alone was never the treatment choice, because fibrovascular proliferation already had occurred. When fundus FA detected a significant dye leakage, photocoagulation also was applied to an avascular area away from the fibrovascular proliferation.
Vitrectomy was performed when fibrovascular proliferation was present in the posterior retina or the periphery and extended circumferentially for 2 or more quadrants, for which condition scleral buckling is ineffective. Lensectomy also was performed when the fibrovascular proliferation was attached extensively to the posterior lens surface or vitreous base or when an extensive tractional RD rapidly progressed owing to aggressive proliferation.
The formed vitreous was removed extensively, especially around the fibrovascular proliferation, along which fibrovascular proliferation can grow. Resection and delamination of the fibrovascular proliferation tissue were minimized when the tissue adhered tightly to the retina and/or ciliary body or contained new vessels.
The preoperative and postoperative fundus features, including the vascular activity of the fibrovascular proliferation and extent of the tractional RDs, were evaluated on color fundus photographs and fundus FA images using the RetCam camera (Massie Research Laboratories, Inc., Pleasanton, California, USA). The best-corrected visual acuity (VA) was measured with a VA chart using Landolt rings or pictures at 5 m and converted to Snellen notation.
Results
The gestational ages at birth ranged from 35 to 41 weeks (mean, 39 weeks); the birth weights ranged from 1768 to 3644 g (mean, 2907 g). The ages at the first visit ranged from 1 month to 10 years (mean, 24 months); the ages at surgery ranged from 1 month to 18 years (mean, 36 months). Nine patients underwent bilateral surgeries at different times; 13 eyes underwent a unilateral surgery.
Active fibrovascular proliferation was seen in 13 eyes of 8 patients who were less than 6 months of age at the time of the first surgery in our hospital, suggesting that the disease continues after the prenatal stage. In 18 eyes of 14 patients, the fibrovascular proliferation regrew during the follow-up period up to age 18 years.
The preoperative fundus findings were fibrovascular proliferation on the posterior retinal pole in 10 eyes, fibrovascular proliferation on the peripheral retina in 1 eye, a serous RD in 1 eye, and a total RD in 4 eyes. Radial retinal folds were already present in 15 eyes: in the temporal quadrant in 14 eyes and in the nasal quadrant in 1 eye.
When patients were 3 years or older, the extent and location of the recurrent fibrovascular proliferation were fewer than 2 quadrants in the periphery in 7 of 10 eyes (70%) and localized in the posterior retina in 3 eyes (30%). In contrast, the types of fibrovascular proliferation varied when patients were younger than 3 years of age; the disease ranged from 2 quadrants or more in the periphery in 5 of 21 eyes (24%), fewer than 2 quadrants in the periphery in 9 eyes (43%), and mainly in the posterior retina in 7 eyes (33%). In 3 of 7 eyes in which the fibrovascular proliferation was restricted to the posterior retina, photocoagulation had been applied previously at referral hospitals.
Ophthalmoscopy identified hemorrhages in 12 of 21 eyes (57%) and exudates in 1 eye (5%) when patients were younger than 3 years of age but failed to identify hemorrhages and exudates without hemorrhage in 2 of 10 eyes (20%) when patients were 3 years of age or older. When patients were younger than 3 years of age, the fibrovascular proliferation appeared reddish, probably because it was composed of many vessels, and FA showed dye leakage in all 21 eyes. In contrast, when patients were 3 years or older, the fibrovascular proliferation, which appeared reddish with fluorescein dye leakage, was seen in only 1 of 10 eyes (10%). In other cases, the fibrovascular proliferation appeared whitish, with no fluorescein dye leakage; however, the tractional RDs slowly developed in accordance with their extension and contraction ( Table 1 ). Thirteen eyes of 11 patients underwent scleral buckling between ages 5 months and 18 years (mean, 52.9 months). Eighteen eyes of 12 patients underwent vitreous surgery; 7 eyes underwent lens-sparing vitrectomy between ages 4 months and 10 years (mean, 52.4 months) and 11 eyes underwent vitrectomy and lensectomy simultaneously between ages 5 and 15 months (mean, 6.3 months). Thirteen eyes underwent laser ablation to the avascular area far from the fibrous proliferation at the time of surgery (7 eyes treated with scleral buckling and 6 eyes with vitrectomy).
| Month 0–35 | Month 36+ | |
|---|---|---|
| N = 21 Eyes | N = 10 Eyes | |
| Range and location of FP | ||
| More than 2 quadrants in periphery | 5 (24%) | 0 |
| Less than 2 quadrants in periphery | 9 (43%) | 7 (70%) |
| Posterior retina | 7 (33%) | 3 (30%) |
| Appearance of FP and surrounding retina | ||
| Abundant vascular proliferation | 21 (100%) | 1 (10%) |
| White fibrous tissue | 0 | 9 (90%) |
| Fluorescein dye leakage | 21 (100%) | 1 (10%) |
| Hemorrhages | 12 (57%) | 0 |
| Hard exudates | 1 (5%) | 2 (20%) |
During vitrectomy, the vitreous gel was rarely liquefied and was firmly adhered to the avascular retina in all eyes. The fibrovascular proliferation that contained many epicenters also was attached firmly to the retina. Thus, formation of a posterior vitreous detachment and delamination of the fibrovascular proliferation were minimized to avoid bleeding and retinal break formation when the RD was partial. Cicatricial tissues from fibrovascular proliferation were dissected and delaminated after stabilization of vascular activity, when the retina totally detached.
In 4 of 13 fellow eyes not treated surgically, photocoagulation was applied to the peripheral avascular area, because FA identified dye leakage at the growth end of the retinal vessels. Four eyes with an avascular area and 1 eye with retinal folds that showed no dye leakage were only observed. Four eyes with a total RD that had cicatrized did not satisfy the surgical criteria, because the fellow eyes were expected to obtain relatively good vision. Table 2 shows the details of all cases.
| Patient | Sex | First Visit (mo) | Eye | Preoperative Fundus Findings | Age at Surgery (mo) | First Surgery | Additional Surgery | Final Fundus Findings | Preop VA | Final VA |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | F | 1 | OD | Retinal fold | 1 | L&V | Attached | Not measured | ||
| OS | Retinal fold | 1 | L&V | SB | Attached | Not measured | ||||
| 2 | M | 2 | OD | FP of posterior pole | 2 | L&V | Attached | Not measured | ||
| OS | FP of posterior pole | 2 | L&V | Attached | Not measured | |||||
| 3 | F | 3 | OD | Total RD AC(-) | NLP | |||||
| OS | Retinal fold | 3 | L&V | SB | Attached | LP | ||||
| 4 | M | 2 | OD | Preretinal hemorrhage | 4 | LSV | Attached | Not measured | ||
| OS | Preretinal hemorrhage | 5 | L&V | Attached | Not measured | |||||
| 5 | F | 3 | OD | FP of posterior pole | 5 | LSV | Attached | 20/100 | ||
| OS | FP of posterior pole | 5 | LSV | Attached | 20/125 | |||||
| 6 | M | 4 | OD | PC | 20/50 | |||||
| OS | Retinal fold | 5 | SB | Attached | CF | |||||
| 7 | M | 4 | OD | Total RD | Not measured | |||||
| OS | Retinal fold | 6 | SB | Attached | Not measured | |||||
| 8 | M | 4 | OD | Retinal fold | 6 | SB | Attached | Not measured | ||
| OS | Retinal fold | 6 | SB | Attached | Not measured | |||||
| 9 | M | 4 | OD | Retinal fold | 8 | L&V | Detached | NLP | ||
| OS | Retinal fold | 74 | SB | Attached | 20/250 | |||||
| 10 | M | 4 | OD | Retinal fold | 10 | L&V | Detached | Not measured | ||
| OS | Retinal fold | 8 | L&V | Attached | Not measured | |||||
| 11 | M | 12 | OD | Avascularity | PC | Not measured | ||||
| OS | Total RD | 12 | SB | Attached | Not measured | |||||
| 12 | F | 12 | OD | Avascularity | PC | Not measured | ||||
| OS | Retinal fold | 13 | SB | Attached | Not measured | |||||
| 13 | F | 12 | OD | Retinal fold | 14 | L&V | Detached | NLP | ||
| OS | Avascularity | 20/20 | ||||||||
| 14 | M | 6 | OD | Retinal fold | 15 | L&V | Detached | LP | ||
| OS | Total RD AC(-) | NLP | ||||||||
| 15 | F | 32 | OD | Total RD | NLP | |||||
| OS | FP of posterior pole | 34 | LSV | Attached | 20/200 | |||||
| 16 | M | 39 | OD | Avascularity | 20/32 | |||||
| OS | Retinal fold | 39 | SB | Attached | 20/320 | 20/250 | ||||
| 17 | M | 25 | OD | FP of periphery | 40 | SB | Attached | 20/25 | ||
| OS | Retinal fold | 20/500 | ||||||||
| 18 | F | 44 | OD | Serous RD | 45 | SB | Attached | 20/200 | 20/125 | |
| OS | Avascularity | PC | 20/32 | |||||||
| 19 | M | 70 | OD | FP of posterior pole | 63 | LSV | Attached | 20/63 | 20/40 | |
| OS | Avascularity | 20/16 | ||||||||
| 20 | F | 97 | OD | Retinal fold | 113 | SB | Attached | 20/16 | 20/16 | |
| OS | Retinal fold | 113 | SB | LSV | Attached | 20/125 | 20/20 | |||
| 21 | F | 122 | OS | FP of posterior pole | 127 | LSV | Attached | 20/50 | 20/100 | |
| OD | FP of posterior pole | 129 | LSV | Attached | 20/63 | 20/25 | ||||
| 22 | F | 41 | OD | Retinal fold | 216 | SB | Attached | 20/200 | 20/32 | |
| OS | Normal | 20/16 |
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