Ординатура / Офтальмология / Английские материалы / Electrophysiology of Vision_Lam_2005

decrease in both scotopic and photopic full-field ERG is found (172,176). In the large autosomal dominant family with 17plinked central areolar choroidal dystrophy described by Lotery et al. (179), standard full-field ERG was performed in seven of eight affected persons, and impaired scotopic and photopic responses were encountered. Four of the eight affected persons had impaired EOG. Lastly, multifocal ERG, pattern ERG, and pattern VEP are all sensitive but non-spe- cific objective tests of macular dysfunction in central areolar choroidal dystrophy (175,179).

NORTH CAROLINA MACULAR DYSTROPHY (CENTRAL AREOLAR PIGMENT EPITHELIAL DYSTROPHY)

North Carolina macular dystrophy or central areolar pigment epithelial dystrophy is a mildly progressive macular autosomal dominant disorder initially described by Lefler et al. (180) in 1971. The disorder was subsequently called North Carolina macular dystrophy because many affected persons in the United States live in North Carolina and are descendants of three Irish brothers who settled in North Carolina in the 1830s. Genealogy investigations eventually revealed that patients who were previously diagnosed with central areolar pigment epithelial dystrophy were also descendants of this large North Carolina kindred (181–183). Patients with North Carolina macular dystrophy now reside in other areas, and affected families in Europe, South America, and Asia, who have no known relationship with the North Carolina kindred, have also been described (184–186). The disorder is linked to the same locus located on chromosome 6q16 for all affected families, and evidence for genetic heterogeneity is lacking (187–189).

Visual acuity in North Carolina macular dystrophy ranges from 20=20 to 20=200. The most prominent clinical feature is the bilateral macular lesions that range from tiny flat yellow flecks with mild pigment irregularity to large oval area of marked colobomatous-like atrophy of the retinal pigment

epithelium and choroid (190,191). Peripheral retinal drusen may also occur. The clinical course is generally stable with mild progression in some affected persons (192). Other clinical findings include decreased color vision and central visual field defects. EOG and full-field ERG responses are generally normal or rarely, midly reduced (180–182,185,187,193). Multifocal ERG, pattern ERG, and pattern VEP are likely to be impaired due to macular dysfunction but these tests have not been studied in detail in this disorder.

PROGRESSIVE BIFOCAL CHORIORETINAL

ATROPHY

Progressive bifocal chorioretinal atrophy, first reported by Douglas et al. (194), is a rare autosomal dominant chorioretinal dystrophy characterized by congenital, progressive macular and nasal chorioretinal atrophic lesions. Visual loss is severe, and nystagmus and myopia are present in affected persons. The disorder is genetically linked to chromosome 6q (195). Full-field ERG rod and cone responses are markedly reduced (194,196). Light rise response of EOG is absent (196).

FENESTRATED SHEEN MACULAR DYSTROPHY

Fenestrated sheen macular dystrophy, first described by O’Donnell and Welch (197) in 1979, is a rare autosomal dominant disorder characterized by the early development of a yellowish refractive sheen with fenestrations within the sensory retina at the macula. Red-free photograph accentuates the appearance of the fenestrations. By the third decade of life, an annular area of hypopigmentation appears around the area of the sheen and progressively enlarges forming a bull’s-eye-like appearance. Visual acuity is normal or mildly reduced and prognosis is generally favorable (197–200). Peripheral retinal pigment epithelial granularity also develops (200). Full-field ERG responses may be normal or demonstrate mild photopic response impairment (197). However, markedly reduced rod and cone full-field ERG responses

may occur in older patients with more advanced disease (200). The EOG light-peak to dark-trough amplitude ratio is normal or near the low end of normal range in patients with mild to moderate disease (197).

FAMILIAL INTERNAL LIMITING

MEMBRANE DYSTROPHY

Familial internal limiting membrane dystrophy described by Polk et al. (201) is a rare autosomal dominant disorder characterized by a diffuse glistening of the inner retinal surface. Cystoid macular edema and localized retinal detachment may also occur. Histopathology demonstrates areas of diffuse irregular, thickened internal limiting membrane with superficial retinal schisis cavities, and cystoid spaces in the inner nuclear layer. Visual acuity does not occur until after the fifth decade. Full-field ERG demonstrates a selective reduction of the b-wave on the scotopic bright-flash combined rod–cone response. The full-field ERG rod and cone responses may be reduced and prolonged in more advanced cases. The EOG light-peak to dark-trough amplitude ratio is normal or mildly impaired.

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