What is the recommended approach for a general physical examination in patients with familial exudative vitreoretinopathy (FEVR)?

General Physical Examination in Familial Exudative Vitreoretinopathy

In patients with familial exudative vitreoretinopathy (FEVR), perform a comprehensive dilated fundus examination with scleral depression as the cornerstone of evaluation, combined with systematic assessment for systemic features of associated genetic syndromes, particularly Stickler syndrome and other collagen disorders. 1

Essential Ocular Examination Components

Primary Ophthalmic Assessment

• Visual acuity testing establishes baseline function and detects macular involvement, which is critical given the high frequency of posterior pole pathology in FEVR 1
• Pupillary assessment for relative afferent pupillary defect is crucial, as it may indicate extensive retinal pathology or ischemia 2, 1
• Confrontation visual field examination screens for peripheral retinal detachment, which occurs in 21% of FEVR eyes 1, 3
• Intraocular pressure measurement using contact applanation tonometry (Goldmann) to exclude secondary glaucoma 2

Detailed Anterior and Posterior Segment Evaluation

• Slit-lamp biomicroscopy examining the vitreous for hemorrhage, detachment, and pigmented cells 2
• Thorough peripheral fundus examination using indirect ophthalmoscopy with scleral depression is the preferred method for detecting retinal breaks, lattice degeneration with perivascular extension, and peripheral chorioretinal atrophy 2, 1
• Examination of the vitreoretinal interface for posterior hyaloidal organization, vitreomacular traction, vitreopapillary traction, and vitreo-fold traction 4
• Assessment of the macula for diminished foveal contour, persistent fetal foveal architecture, cystoid macular edema, and intraretinal exudates 4

Advanced Imaging Modalities

• Optical coherence tomography (OCT) should be performed to evaluate vitreomacular interface abnormalities, stage posterior vitreous detachment, detect perifoveal PVD with vitreofoveal adhesion, and assess for disruption of the ellipsoid zone, which correlates strongly with poor visual outcomes 2, 1, 4
• Wide-field fluorescein angiography is essential for identifying peripheral avascular zones, neovascularization, and exudation, and can detect disease in earlier stages 5, 6
• B-scan ultrasonography is mandatory when media opacity or poor patient cooperation prevents adequate fundus visualization, to search for retinal tears, detachment, or mass lesions 2, 1

Critical History Elements

Ophthalmic History

• Family history of retinal detachment and genetic disorders, particularly Stickler syndrome, Wagner syndrome, FEVR, and other hereditary vitreoretinopathies 2, 1
• Symptoms of posterior vitreous detachment, including photopsias (light flashes) and floaters 2, 1
• Prior ocular trauma, which can precipitate earlier vitreous changes 2, 1
• Degree of myopia, as high myopia is common in hereditary vitreoretinopathies 2, 1
• History of ocular surgery, including cataract extraction, which occurs at younger ages in these conditions 2, 1

Systemic History

• Medical conditions including diabetes, hypertension, and coagulopathies that may complicate the clinical picture 2
• Current medications and allergies 2

Systemic Physical Examination for Associated Syndromes

Skeletal Assessment (Stickler Syndrome)

• Evaluate for marfanoid habitus, generalized skeletal dysplasia, and joint hypermobility 1
• Assess for arthropathy and premature osteoarthritis, which are common in Stickler syndrome 1

Craniofacial Examination (Stickler Syndrome)

• Examine for flattened facies (midface hypoplasia), which is characteristic 1
• Assess the palate for high arched or cleft palate 1
• Evaluate for micrognathia (small jaw) 1

Audiologic Assessment

• Hearing evaluation is essential, as sensorineural hearing loss is common in Stickler syndrome and should prompt referral to audiology 1

Differential Diagnosis Considerations

When evaluating FEVR, distinguish from:

• Retinopathy of prematurity (ROP): History of prematurity and neonatal intensive care distinguishes ROP from FEVR 5
• Norrie disease: X-linked inheritance pattern, bilateral congenital blindness, and associated developmental delay 5
• Incontinentia pigmenti: Female predominance, characteristic skin findings, and dental abnormalities 5
• Coats disease: Typically unilateral, sporadic occurrence without family history 5

Critical Pitfalls to Avoid

• Failing to perform adequate scleral depression during peripheral examination is a common error, as many retinal breaks in hereditary vitreoretinopathies occur at the vitreous base or within areas of lattice degeneration that extend posteriorly 1
• In Stickler syndrome, perivascular lattice degeneration extending radially carries much higher risk than circumferential lattice and requires more aggressive monitoring 1
• Relying solely on wide-field photography is inadequate, as it cannot replace careful ophthalmoscopy with scleral depression and may miss small peripheral lesions 2, 1
• Underestimating the surgical complexity: Retinal detachment in FEVR has poor surgical outcomes, with only 50% achieving visual acuity of 5/60 or better after surgery, emphasizing the importance of early detection and prophylactic treatment 6

Examination Frequency and Follow-up

• Patients with known hereditary vitreoretinopathy require examination every 6-12 months through age 30, then annually thereafter, with more frequent monitoring if new lesions develop or treatment is ongoing 1
• Children should begin screening within the first year of life if genetic testing confirms disease 1
• Asymptomatic family members should undergo screening with wide-field fluorescein angiography to identify subclinical disease 5, 6
• If vitreous hemorrhage obscures the view, patients should be followed weekly until adequate examination can be performed or until B-scan ultrasonography can definitively exclude retinal tears 2

Prophylactic Treatment Considerations

• Prophylactic photocoagulation or cryotherapy should be performed for retinal holes, local exudative detachments, and bleeding new vessels, as this stabilizes vision in the majority of cases 6
• Timely diagnosis and intervention is essential given the lifelong progression of FEVR, late exacerbations, and frequent involvement of family members 6