Vitreochorioretinopathies

Stickler syndrome

Stickler syndrome (hereditary arthro-ophthalmopathy) is a disease of connective tissue collagen, manifested by pathology of the vitreous body, myopia, facial anomalies of varying degrees, deafness and arthropathy. In this syndrome, among other hereditary diseases in children, there is the highest frequency of retinal detachment.

The inheritance pattern is autosomal dominant with complete penetrance and variable expressivity.

Symptoms

• Optically empty vitreous cavity due to liquefaction and syneresis.
• Rounded transparent membranes in the equatorial zone, extending into the vitreous cavity.
• Radial dystrophy, similar to "lattice", is accompanied by RPE hyperplasia, vascular cuffs and sclerosis.

Complications. Retinal detachment, often bilateral, occurs in about 30% of cases due to multiple or giant tears. Because the prognosis is poor, patients require regular screening and preventive treatment for retinal tears.

Accompanied by

• congenital myopia (common);
• presenile cataract (50% of cases) with characteristic peripheral cortical wedge-shaped opacities, often non-progressive;
• ectopia lentis (10% of cases);
• glaucoma (10% of cases) due to an angle anomaly similar to that in Marfan syndrome.

Systemic symptoms

• facial skeletal anomalies: flattened bridge of the nose and hypoplasia of the upper jaw.
• skeletal anomaly: marfanoid appearance, arthropathy, hyperextension of joints.
• Robin series: micrognathia, glossoptosis, cleft soft palate and its gothic appearance.
• Other signs include deafness and mitral valve prolapse.

Differential diagnostics. Similarity with Wagner syndrome, which is not accompanied by systemic manifestations: moderate myopia, retinal detachment - rare.

Favre-Goldmann syndrome

Favre-Goldmann syndrome is characterized by retinoschisis and pigmentary retinopathy. The inheritance pattern is autosomal recessive. It manifests itself in childhood as nyctalopia.

Symptoms

• Vitreous syneresis, but the cavity is not optically "empty".
• Retinal changes are similar to congenital retinoschisis, but changes in the macular region are less pronounced.
• Pigmentary retinopathy (similar to retinitis pigmentosa) and white dendritic peripheral retinal vessels.
• electroretinogram is subnormal.

The prognosis is unfavorable.

[ 1 ], [ 2 ], [ 3 ], [ 4 ], [ 5 ], [ 6 ], [ 7 ]

Familial exudative vitreoretinopathy

Familial exudative vitreoretinopathy (Criswick-Schepens syndrome) is a slowly progressive disorder characterized by avascularity of the temporal periphery of the retina, similar to retinopathy of prematurity, but without the history of low birth weight and prematurity.

The inheritance pattern is mainly autosomal dominant, linked to the X chromosome with high penetrance and variable expressivity. It manifests itself in late childhood.

Symptoms (in order of appearance)

• Vitreous degeneration and peripheral vitreoretinal adhesions, "white without pressure" zones.
• Peripheral vascular tortuosity, telangiectasias, neovascularization, hemorrhages and subretinal exudates.
• Fibrovascular proliferation and vitreoretinal traction with ridge formation, elongated vessels, local retinal detachment and temporal displacement of the macular region.
• Extensive traction detachment, subretinal exudation, band keratopathy, cataract and glaucoma.
• Electroretinogram is normal.
• FAG reveals peripheral zones of aperfusion and straightening of blood vessels.

The prognosis is poor, in some cases peripheral laser photocoagulation or cryotherapy is effective. Vitreoretinal detachment surgery is complex and in certain cases can give positive results.

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Erosive vitreoretinopathy

The inheritance type is autosomal dominant. It manifests itself in childhood.

Symptoms

• Vitreous synresis and multiple foci of vitreoretinal traction.
• Thinning of the RPE and progressive choroidal atrophy, which may extend to the macula, is similar to choroideremia.

Complications: retinal detachment in 70% of cases, often bilateral due to giant tears.

Electroretinogram is subnormal.

The prognosis is unclear because treatment of the detachment is complicated.

[ 9 ], [ 10 ]

Dominant neovascular inflammatory vitreoretinopathy

The inheritance type is autosomal dominant. It manifests itself in the 2-3 decades of life as a suspension in the vitreous body.

Symptoms

• Uveitis.
• Pigmentary retinal degeneration.
• Peripheral vascular occlusion and neovascularization.

Complications: hemophthalmos, tractional retinal detachment and cystoid macular edema.

Electroretinogram: selective reduction in b-wave amplitude.

The prognosis is unclear.

[ 11 ], [ 12 ]

Dominant vitreoretinochoroidopathy

The inheritance type is autosomal dominant. It manifests itself in adulthood and is often discovered by chance.

Symptoms

• A rim of pigment between the serrata ora and the equator with a clearly defined peripheral border.
• Thinning of arterioles within the rim, neovascularization, "white-dotted" opacities, and later - chorioretinal atrophy.

Complications are uncommon and include cystoid macular edema and, rarely, hemophthalmos.

Electroretinogram is subnormal.

The prognosis is favorable.

[ 13 ], [ 14 ], [ 15 ], [ 16 ], [ 17 ], [ 18 ]