Pediatric Retinal Diseases


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Pediatric Retinal Diseases


RETINOPATHY OF PREMATURITY


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



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Figure 6-1. Stage 3 retinopathy of prematurity indicated by the extraretinal fibrovascular proliferation (arrowhead).




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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.)



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



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Figure 6-3. Plus disease in patient with retinopathy of prematurity. Arterial tortuosity and vascular engorgement are apparent.




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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


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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)




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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



Differential Diagnosis


ROP, incontinentia pigmenti, Eales disease, Coats disease, PFV, Norrie disease


Management



COATS DISEASE


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


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Figure 6-7. Fundus photograph demonstrating dense macular exudate (arrow), and extensive telangiectasia temporally (arrowheads). (Reprinted with permission from Carol L. Shields, MD.)

Nov 28, 2021 | Posted by in OPHTHALMOLOGY | Comments Off on Pediatric Retinal Diseases
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