Ординатура / Офтальмология / Английские материалы / Handbook of Pediatric Retinal Disease_Wright, Spiegel, Thompson_2006
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77.Kaplan J, Gerber S, Bonneau D, et al. A gene for Usher syndrome type 1 (USH1A) maps to chromosome 14q. Genomics 1992;14:979– 987.
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92.Loewen CJ, Moritz OL, Molday RS. Molecular characterization of peripherin-2 and rom-1 mutants responsible for digenic retinitis pigmentosa. J Biol Chem 2001;276(25):22388–22396.
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107.Musarella MA, Anson-Cartwright CL, McDowell C, et al. Physical mapping at a potential X-linked retinitis pigmentosa locus (RP3) by pulsed-field gel electrophoresis. Genomics 1991;11(2):263–273.
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108.Musarella MA, Weleber RG, Murphey WH, et al. Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3. Genomics 1989;5:727–737.
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110.Nathans J, Davenport CM, Maumenee IH, et al. Molecular genetics of human blue cone monochromacy. Science 1989;245:831–838.
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6
Disorders of the Vitreous
and Vitreoretinal Interface
David M. Brown and Thomas A. Weingeist
The human vitreous is a complex extracellular matrix composed of 98% water and 2% solid material. The basic structure of the vitreous matrix is a scaffold of cross-linked collagen fibrils with hyaluronic acid molecules within the scaffold. Hyaluronic acid is very hydrophilic, and water molecules are attracted to the scaffold providing turgor and rigidity to the matrix. The vitreous is primarily a solid gel in children’s eyes but becomes progressively more liquid with aging. Liquefaction of the vitreous occurs when the hyaluronic acid depolymerizes, freeing the bound water and allowing the collagen scaffold to collapse. The collagen filaments then coalesce to form collagen fibers, causing the “floaters” seen by patients with aging of the
vitreous.
Several hereditary degenerative conditions are characterized by an abnormal appearance of the vitreous gel structure and associated retinal changes. Because of the intimate relationship between the vitreous and the retina, it is often difficult to identify which tissue is primarily affected. Some of these diseases may arise from abnormal formation or accelerated degenerative changes of the vitreous body that lead to secondary retinal changes. Other entities are most likely caused by abnormal development of retinal vasculature, which leads to secondary vitreous degeneration in the areas of avascular retina.
Many of the vitreoretinopathies discussed in this chapter have similar findings with only a few differentiating points. Table 6-1 provides an introduction to these disorders and demonstrates the overlapping clinical findings in many of the diseases.
178
TABLE 6-1. Vitreoretinopathy Review.
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Goldmann– |
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Lattice |
Wagner |
|
Stickler |
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Favre |
X-linked |
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|
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degeneration |
syndrome |
|
syndrome |
Erosive |
syndrome |
retinoschisis |
Snowflake |
ADViRC |
ADNIV |
FEVR |
Vitreous syneresis |
Focal |
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Cataract |
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Risk of retinal |
2% |
5% |
|
50% |
50% |
5% |
5%–10% |
33% |
2% |
20% |
4%–30% |
detachment |
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Foveal changes |
|
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RPE |
Foveal |
Foveal |
|
CME |
CME |
Ectopic |
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“erosion” |
schisis |
schisis |
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fovea |
Prominent |
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pigmentary |
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retinopathy |
|
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|
|
|
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ERG changes |
|
b-wave |
|
|
b-wave |
Extinguished |
b-wave |
b-wave |
|
b-wave |
|
|
|
extinguished |
|
extinguished |
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Inflammation/ |
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neovascularization |
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Inheritance pattern |
Polygenic |
AD |
|
AD |
AD |
AR |
XL |
AD |
AD |
AD |
AD/AR/XL |
Systemic |
|
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Orofacial |
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manifestations |
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and |
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11q131AD |
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orthopedic |
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Genetic Locus |
Unknown |
5q13 |
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COL2A1 |
5q13 |
NR2E3 |
XLRS1 |
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11q13 |
Norrie |
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COL11A1 |
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disease |
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gene (XL) |
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ADViRC, autosomal dominant vitreoretinochoroidopathy; ADNIV, autosomal dominant neovascular inflammatory vitreoretinopathy; FEVR, familial exudative vitreoretinopathy; RPE, retinal pigment epithelium; CME, cystoid macular edema; AR, autosomal recussive; XL, X-linked; RD, retinal detachment.
179 INTERFACE VITREORETINAL AND VITREOUS THE OF DISORDERS :6 CHAPTER
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LATTICE DEGENERATION
Lattice degeneration is the most common vitreoretinal abnormality and occurs in 6% to 8% of the population. It is asymptomatic unless complicated by retinal tears or detachment. Lattice degeneration is an important clinical entity in this regard because it is responsible for 20% to 30% of all rhegmatogenous retinal detachments. It is more common in patients with myopia, and is found in both sexes and all races.
Ocular findings in lattice degeneration are limited to the vitreous and retinal changes. The lesions consist of a localized thinning of the inner retinal layers, an overlying adjacent zone of liquified vitreous surrounded by a sheath of condensed vitreous fibrils, and a firm attachment of the vitreous sheath to the edges of the retinal lesion.7 Other retinal changes are observed in some cases: pigmentation (seen to some degree in 82%) (Fig. 6-1); whitish-yellow surface flecks; round, oval, or linear white patches or red craters; small atrophic round holes; branching white lines; yellow atrophic spots (depigmentation of the pigment epithelium); and, rarely, tractional tears at the ends or posterior margins of the lesions.8 The characteristic white lines are blood vessels coursing through the lattice lesion and are not required for the diagnosis (Fig. 6-2). Retinal detachments occur
FIGURE 6-1. Pigmented oval lattice degeneration lesions in the midperiphery in an asymptomatic patient.
CHAPTER 6: DISORDERS OF THE VITREOUS AND VITREORETINAL INTERFACE 181
FIGURE 6-2. Retinal detachment associated with retinal break in lattice degeneration. The characteristic white lines are blood vessels coursing through the lattice lesion.
in 2% of patients with lattice degeneration by two distinct pathogenetic mechanisms. The most common type usually occurs in patients over age 50 and is initiated by a sudden posterior vitreous detachment that in turn leads to a tractional retinal tear in a lattice lesion or at a vitreoretinal adhesion in a clinically normal area.9 The other type of detachment, which occurs in younger patients without posterior vitreous detachments, is caused by atrophic holes present in the lattice lesions. These detachments are often asymptomatic and limited in nature.
The prevalence of lattice degeneration is essentially unchanged throughout life, and new lesions are generally not seen after the second decade.15 Thus, lattice degeneration is presumed to be a localized developmental lesion of the vitreoretinal juncture. Although the vitreous overlying the clinical lattice lesions is liquefied, there are no central vitreous changes (liquefaction or synchysis senilis) or premature posterior vitreous detachment in patients with lattice degeneration. Likewise, there are no known systemic associations. Inheritance is probably polygenic, although pedigrees with autosomal dominant inheritance have been reported.8