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2.6Gyrate Atrophy

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66 2 Hereditary Retinal and Allied Diseases

Gyrate atrophy of the choroid is a rare, reces- sively inherited chorioretinal atrophy that results from an inborn error of metabolism.

Gyrate atrophy is caused by generalized deficiency of the mitochondrial matrix enzyme, ornithine aminotransferase [1] and is manifested early in life as sharply demarcated garland-shaped zones of chorioretinal atrophy in the mid-periphery of the fundus (Fig. 2.25) [2]. The macula is usually involved later in life.

Pallor of the optic disk, vitreous opacities, and narrowing of the retinal vessels may develop at a relatively advanced stage of the disease. Most patients have a high degree of myopia and night

blindness, and loss of the peripheral visual field accompanies the fundus changes. The ERG is usually markedly reduced or absent during early childhood even when the fundus changes are minimal (Fig. 2.26).

An expression defect of the ornithine aminotransferase gene was identified in gyrate atrophy [3]. There are two clinical subtypes of gyrate atrophy based on the in vivo response to vitamin B

6

: patients who are B

6

-responsive and those who are not responsive. The patients who are vitamin B

6

-responsive generally have a milder disease than those who are vitamin B

6

–unresponsive [4].

2.6 Gyrate Atrophy

Fig. 2.25. Fundus photograph (left) and fluorescein angiogram (right) of a 39-year-old man with gyrate atrophy. (From Ota et al. [2])

RDI2(104%) 9/9/05 7:52 PM Page 66

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2.6 Gyrate Atrophy 67

References

1. Takki KK (1974) Gyrate atrophy of the choroid and retina associated with hyperornithinaemia. Br J Ophthalmol 58:3–23

2. Ota I, Miyake Y, Ichikawa H (1985) A family with gyrate atrophy. Jpn Rev Clin Ophthalmol 79:1221–

1223

3. Inana G, Hotta Y, Zintz C, Takki K, Weleber RG, Kennaway NG, et al (1988) Expression defect of ornithine aminotransferase gene in gyrate atrophy.

Invest Ophthalmol Vis Sci 29:1001–1005

4. Wilson DJ, Weleber RG, Green WR (1991) Ocular clinicopathologic study of gyrate atrophy. Am J Ophthalmol 111:24–33

Fig. 2.26. Full-field ERGs of the patient whose fundus is shown in Fig. 2.25 RDI2(104%) 9/9/05 7:52 PM Page 67

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