Turner D. Wibbelsman, BS and James F. Vander, MD
- Leading cause of subsequent blindness and visual impairment in low birth weight and premature infants
- Associated with incomplete retinal vascular formation and secondary retinal neovascularization
- Systematic screening based on risk factors is critical
- Risk Factors: birth weight < 1500 g or gestational age < 30 weeks; birth weight 1500 to 2000 g or gestational age > 30 weeks with unstable clinical course
Exam Findings
Location (zone), extent (clock hours), stage, and plus disease status
Figure 6-1. Stage 3 retinopathy of prematurity indicated by the extraretinal fibrovascular proliferation (arrowhead).
- Location: zone I—circle, radius of which extends from center of optic disc to twice the distance from center of optic disc to center of the macula; zone II—extends from edge of zone I to nasal ora serrata; zone III—residual crescent of retina anterior to zone II
- Stages: Stage 1—thin demarcation line separates vascular/avascular regions in peripheral retina; Stage 2—ridge with height and width separates vascular/avascular regions in peripheral retina; Stage 3—extraretinal fibrovascular proliferation or neovascularization from ridge into vitreous; Stage 4—(a) partial retinal detachment (RD), non-fovea involving and (b) partial RD, fovea involving; Stage 5—total RD (Figures 6-1 and 6-2)
- Pre-plus disease: more vascular engorgement and arterial tortuosity in posterior pole than normal
Figure 6-2. RetCam photographs of various retinopathy of prematurity disease stages. (A) Demarcation line (arrowhead) in Stage 1. (B) Ridge (arrowhead) in Stage 2 disease. (C) Zone I extraretinal fibrovascular proliferation in Stage 3. (D) Zone II extraretinal fibrovascular proliferation in Stage 3. (Reprinted with permission from Michael A. Klufas, MD.)
- Plus disease: 2 or more quadrants of vascular engorgement and arterial tortuosity in posterior pole (Figure 6-3)
- Involutional sequelae include tractional dragging, usually temporally, of major retinal vessels (Figure 6-4)
Testing
Telemedicine applications are currently being explored for large-scale screening efforts.
Differential Diagnosis
Family exudative vitreoretinopathy (FEVR), persistent fetal vasculature (PFV), RD, incontinentia pigmenti, Norrie disease, shaken baby syndrome, X-linked retinoschisis, ocular toxocariasis, Coats disease, intermediate uveitis, endophthalmitis, retinoblastoma
Figure 6-3. Plus disease in patient with retinopathy of prematurity. Arterial tortuosity and vascular engorgement are apparent.
Figure 6-4. Dragged retinal vessels in patient with retinopathy of prematurity.
Management
- Spontaneous regression in 85% of infants with Stage 1 retinopathy of prematurity (ROP)
- Confluent laser photocoagulation to avascular retina: indicated for zone I any stage with plus disease or Stage 3 without plus disease and zone II Stage 2 to 3 with plus disease
- Anti-vascular endothelial growth factor (VEGF) therapy: early evidence for benefit in zone I disease; long-term recurrence rate and systemic safety are yet to be determined
- Vitrectomy and/or scleral buckle: indicated for Stages 4 and 5 ROP; poor visual outcomes are common in these cases
FAMILIAL EXUDATIVE VITREORETINOPATHY
Samir Patel, MD and Allen C. Ho, MD, FACS
- Rare, typically bilateral, inheritable disorder of retinal vascular development characterized by peripheral retinal non-perfusion and neovascularization
- Positive family history in 20% to 40% of cases with multiple modes of inheritance and variable expressivity: autosomal dominant (most common), autosomal recessive, X-linked recessive
- Nearly 50% of cases are linked to 4 causative genes (Norrie disease protein [NDP], Frizzled-4 [FZD4], low-density lipoprotein receptor-related protein 5 [LRP5], and tetraspanin-12 [TSPAN12]) that forms part of the Wnt signaling pathway
Figure 6-5. Color fundus photograph of the left eye showing temporal vascular dragging with subretinal exudation.
Signs and Symptoms
Most asymptomatic with mild disease, blurred vision, strabismus or leukocoria in children if severe
Exam Findings
Typically bilateral with asymmetric findings; peripheral retinal changes including retinal ischemia, neovascularization, macular dragging, subretinal exudation, vitreoretinal traction, and tractional and/or exudative RD (Figure 6-5)
- Proposed classification: Stage 1—avascular retinal periphery (a) without exudate (b) with exudate; Stage 2—retinal neovascularization (a) without exudate (b) with exudate; Stage 3—extramacular RD (a) without exudate (b) with exudate; Stage 4—macular involving RD, subtotal (a) without exudate (b) with exudate; Stage 5—total RD
Figure 6-6. Ultra wide-field fluorescein angiogram of the left eye showing peripheral non-perfusion temporally with areas of hyperfluorescence and leakage corresponding to retinal neovascularization.
Testing
- Wide-field fluorescein angiography (FA) of the patient and family members (Figure 6-6)
- Genetic testing for FEVR-related genes
Differential Diagnosis
ROP, incontinentia pigmenti, Eales disease, Coats disease, PFV, Norrie disease
Management
- Stage 1: typically requires no treatment but regular follow-up
- Stage 2: laser photocoagulation to all peripheral avascular areas
- Stages 3 to 5: vitrectomy with or without scleral buckling
- Anti-VEGF therapy may be helpful prior to surgery, but should not be used as monotherapy
- FEVR is a lifelong disease that can progress and requires long-term follow-up.
Douglas R. Matsunaga, MD and Carl H. Park, MD
- Idiopathic, non-hereditary exudative retinopathy
- Unilateral, typically young males (median age of 5 years old) > females (20% to 30%)
Signs and Symptoms
Decreased vision, strabismus, leukocoria
Exam Findings
Retinal telangiectasia (typically peripheral) with associated lipid exudation (Figure 6-7), cystoid macular edema, epiretinal membrane, exudative RD, secondary neovascular glaucoma in end-stage disease with severe exudative detachment, less common: macrocyst, neovascularization
Testing
- FA: hyperfluorescent telangiectasia, hypofluorescent blockage by exudates, capillary non-perfusion, pooling in subretinal space (Figure 6-8)
- B-scan ultrasound: exudative RD with scattered hyperechogenicity due to high lipid content within subretinal fluid
- Fine needle aspiration biopsy: in ambiguous cases concerning for retinoblastoma; this will show lipid-laden macrophages and cholesterol crystals
Figure 6-7. Fundus photograph demonstrating dense macular exudate (arrow), and extensive telangiectasia temporally (arrowheads). (Reprinted with permission from Carol L. Shields, MD.)
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