Maurice F. Rabb » Gyrate Atrophy

A 26 year old woman with gyrate atrophy is presented for your interest. At the initial examination in 1977, she provided a history of poor night vision and constricted visual fields since age 7, and progressive loss of central visual acuity having been noted during the preceding three years. She had been told at age 7 that she had retinitis pigmentosa.

Her visual acuity was recorded as 20/80, O.D. and 20/200, O.S. She was moderately myopic, had posterior subcapsular lens opacities, debris in the vitreous, and fundus findings consistent with gyrate atrophy. Additionally, preretinal membrane produced gross derangement of the macular architecture in the right eye and preretinal membrane with cystoid macular edema was evident on the left. In the far periphery of each eye, oriented in a circumferential configuration, there were zones of elevated, yellow-white dense appearing deposits which presumably were sites of calcific degeneration and/or bone formation. The retina was very thinned in some areas at the far periphery and in the post-oral zone of each eye there were segments where the retinas were locally detached. Retinal breaks have not been identified. These peripheral sites have remained unchanged over the two and one-half years that the patient has been observed.

Special studies revealed a flat ERG, impaired color vision, constricted visual fields, serum ornithine levels greater than ten times normal, and high urinary concentrations of ornithine, lysine, and arginine.

The fluorescein angiogram shows the presence of late developing cystoid macular edema on the left side and the presence of intraretinal dye leakage on the right side associated with the preretinal membrane. The color photographs in 1978 and 1981 show pregression of the degeneration and substantial pigmentation of the preretinal membrane in the right eye which had not been present in 1978.

Over the past one and one-half years dietary manipulations have included vitamin B6 supplements, low-protein intake, and supplements with a-aminoisobutyric acid.