Vitreohorioretinopathies

Stickler Syndrome

Stickler syndrome (hereditary arthro-ophthalmopathy) is a disease of connective tissue collagen, manifested by vitreous pathology, nearsightedness, facial abnormalities of various degrees, deafness and arthropathy. In this syndrome, among other hereditary diseases in children - the highest frequency of detachment of the retina.

Type of inheritance is autosomal dominant with full penetrance and variable expressiveness.

Symptoms

• Optically empty vitreous cavity due to dilution and syneresis.
• Rounded transparent membranes in the equatorial zone, extending into the vitreous cavity.
• Radial dystrophy, similar to "latticed", is accompanied by hyperplasia of RP, vascular couplings and sclerosis.

Complications. Retinal detachment, often bilateral, develops in about 30% of cases due to multiple or giant ruptures. Since the prognosis is unfavorable, patients need regular examination and preventive treatment of retinal ruptures.

Accompanied by

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

Systemic symptoms

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

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

Favre Goldmann Syndrome

Favre-Goldmann syndrome is characterized by retinosis and pigment retinopathy. Type of inheritance is autosomal recessive. It appears in childhood as niktalopia.

Symptoms

• Syneresis of the vitreous body, but the cavity is not optically "empty".
• Changes in the retina are similar to congenital retinoschisis, but changes in the macular area are less pronounced.
• Pigment retinopathy (similar to retinitis pigmentosa) and white treelike peripheral vessels of the retina.
• electroretinogram subnormal.

The outlook is unfavorable.

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

Family exudative vitreoretinopathy

Family exudative vitreoretinopathy (Criswick-Schepens syndrome) is a slowly progressive disease characterized by avascularisation of the temporal periphery of the retina, similar to retinopathy of prematurity, but without low weight and prematurity in the anamnesis.

The type of inheritance is mainly autosomal dominant, linked to the X chromosome with high penetrance and variable expressiveness. It appears in the older childhood.

Symptoms (in order of manifestation)

• Degeneration of the vitreous body and peripheral vitreoretinal seams, zones "white without pressure".
• The tortuosity of peripheral vessels, telangiectasia, neovascularization, hemorrhages and sub-intestinal exudates.
• Fibrovascular proliferation and vitreoretinal traction with the formation of the shaft, elongated vessels, local retinal detachment and displacement of the macular area in the temporal direction.
• Extensive traction detachment, subretinal exudation, ribbon-like keratopathy, cataract and glaucoma.
• Electroretinogram is normal.
• The phage reveals peripheral zones of aperfusion and rectification of blood vessels.

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

[8]

Erosive vitreoretinopathy

Type of inheritance is autosomal dominant. It appears in childhood.

Symptoms

• The vitreous fissure and multiple foci of vitreoretinal traction.
• Thinning of RPE and progressive atrophy of the choroid, which can spread to the macula, is similar to choroiddermia.

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

Electroretinogram subnormal.

The prognosis is not clear, since the treatment of detachment is complicated.

[9], [10]

Dominant neovascular inflammatory vitreoretinopathy

Type of inheritance is autosomal dominant. It appears in 2-3 days of life with a suspension in the vitreous body.

Symptoms

• Uveitis.
• Pigmentary degeneration of the retina.
• Peripheral vessel occlusion and neovascularization.

Complications: hemophthalmus, traction retina detachment and cystic macular edema.

Electroretinogram: selective reduction of the b-wave amplitude.

The forecast is unclear.

[11], [12]

Dominant Vitreoretinochioidopathy

Type of inheritance is autosomal dominant. It appears in adulthood, it is often discovered by chance.

Symptoms

• The rim of the pigment is between the og serrata and the equator with a clearly defined peripheral boundary.
• Thinning of arterioles within the rim, neovascularization, "white-point" opacities. Later - chorioretinal atrophy.

Complications are infrequent, including cystic macular edema and rarely - hemophthalmia.

Electroretinogram subnormal.

The forecast is favorable.

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