Physical and General Examination in Hereditary Vitreoretinopathy
Patients with hereditary vitreoretinopathy require a comprehensive dilated fundus examination with scleral depression to detect peripheral retinal pathology, combined with systematic evaluation for associated systemic features, particularly in Stickler syndrome and related collagen disorders. 1
Essential Ocular Examination Components
The ophthalmic evaluation must include:
- Visual acuity testing to establish baseline function and detect macular involvement 1
- Pupillary assessment for relative afferent pupillary defect, which may indicate extensive retinal pathology 1
- Confrontation visual field examination to screen for peripheral retinal detachment 1
- Slit-lamp biomicroscopy to evaluate for early-onset cataract (often cortical or wedge-shaped), corneal guttae, and anterior segment abnormalities 2
- Vitreous examination for characteristic abnormalities including optically empty vitreous, coarse fibrils, vestigial membranes behind the lens, or fibrillar degeneration patterns 2
- Thorough peripheral fundus examination using indirect ophthalmoscopy with scleral depression, which is the preferred method for detecting retinal breaks, lattice degeneration with perivascular extension, and peripheral chorioretinal atrophy 1
Critical History Elements
The patient history must specifically address:
- Family history of retinal detachment and genetic disorders, particularly Stickler syndrome, Wagner syndrome, familial exudative vitreoretinopathy (FEVR), and other hereditary vitreoretinopathies 1
- Symptoms of posterior vitreous detachment including photopsias (light flashes) and floaters 1
- Prior ocular trauma, which can precipitate earlier vitreous changes 1
- Degree of myopia, as high myopia is common in hereditary vitreoretinopathies 1
- History of ocular surgery including cataract extraction, which occurs at younger ages in these conditions 1
Systemic Physical Examination
For Stickler syndrome specifically, examine for:
- Skeletal features including marfanoid habitus, generalized skeletal dysplasia, and joint hypermobility 1
- Craniofacial abnormalities including flattened facies (midface hypoplasia), high arched or cleft palate, and micrognathia 1
- Hearing assessment, as sensorineural hearing loss is common 1
- Other skeletal anomalies which may be subtle but clinically significant 1
Advanced Imaging When Indicated
Optical coherence tomography (OCT) should be performed to evaluate vitreomacular interface abnormalities, stage posterior vitreous detachment, and detect perifoveal PVD with vitreofoveal adhesion that may threaten vision 1, 3
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 1
Wide-field fluorescein angiography is essential in FEVR to identify the avascular peripheral retina, neovascularization, and guide treatment planning 4
Critical Pitfalls to Avoid
The most common error is failing to perform adequate scleral depression during peripheral examination, 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 1.
Do not rely solely on wide-field photography, as it cannot replace careful ophthalmoscopy with scleral depression and may miss small peripheral lesions 1
Examination Frequency
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.