Comprehensive Examination Approach for Hereditary Vitreoretinopathy

Essential Ocular Examination Components

The American Academy of Ophthalmology recommends 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, 2
Visual acuity testing is essential to establish baseline function and detect macular involvement 1, 2
Pupillary assessment for relative afferent pupillary defect is crucial, as it may indicate extensive retinal pathology 1, 2
Confrontation visual field examination is necessary to screen for peripheral retinal detachment 1, 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 1, 2

A thorough family history of retinal detachment and genetic disorders, particularly Stickler syndrome, Wagner syndrome, familial exudative vitreoretinopathy (FEVR), and other hereditary vitreoretinopathies, is essential 1, 2
Symptoms of posterior vitreous detachment, including photopsias (light flashes) and floaters, should be evaluated 1, 2
Prior ocular trauma, which can precipitate earlier vitreous changes, should be assessed 1, 2
The degree of myopia, as high myopia is common in hereditary vitreoretinopathies, should be determined 1, 2
A history of ocular surgery, including cataract extraction, which occurs at younger ages in these conditions, should be obtained 1, 2

For Stickler syndrome, a thorough examination for skeletal features, including marfanoid habitus, generalized skeletal dysplasia, and joint hypermobility, is necessary 3
Craniofacial abnormalities, including flattened facies (midface hypoplasia), high arched or cleft palate, and micrognathia, should be evaluated in Stickler syndrome patients 3
A hearing assessment is essential, as sensorineural hearing loss is common in Stickler syndrome 3

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 2
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, 2

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, 2
In Stickler syndrome, perivascular lattice degeneration extending radially carries much higher risk than circumferential lattice 3
Relying solely on wide-field photography is not recommended, as it cannot replace careful ophthalmoscopy with scleral depression and may miss small peripheral lesions 1, 2

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 4, 5
Children should begin screening within the first year of life if genetic testing confirms disease 5