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Choroideremia
NOTES, CASES, INSTRUMENTS CHOROIDEREMIA THEODORE M. SHAPIRA, M.D., JAY A. SITNEY,
AND
M.D.
Chicago
Since Mauthner's original description of choroideremia in 1871, 30 additional reports of this disease have appeared in the literature. Bedell1 published an ex haustive study and review of the litera ture in 1938, and Friedman added a single case report in 1940.2 Choroideremia is a nonprogressive disease characterized by a bilateral ab sence of the choroid and accompanied by night blindness and visual-field contrac tion, but with preservation of central vi sion, at least until very late in the devel opment of the disease. All but one of the cases reported have been in males. There is a typical fundus picture, since most of the choroid and pigment epithelium is ab sent. The fundus appears white or green ish-white, with an island of normal red color only in the macular area. Choroidal vessels may be entirely absent or a few small vessels may remain. There are gen erally a few clumps of scattered pigment. The retinal circulation is usually normal in appearance, with occasionally some what narrow arteries. In only a single pa tient were the vessels described as very narrow. The discs are normal. Fried man's report presents an excellent differ ential diagnosis from retinitis pigmentosa. The nature of the condition, whether congenital or acquired, has not yet been determined. Bedell believes that it is a dissolution of choroid developing during the life of the patient, and therefore not a congenital absence. There have been no pathologic examinations. We are reporting the following case of choroideremia not only because of the rarity of the disease but also because of
the unusual aspects of this one. First, only once before has choroideremia been described in a female. Second, because of the associated local and general pathology, the ophthalmologic picture was almost overlooked as being one of choroideremia. A. T., a white woman, aged 52 years, was seen in November, 1941, in the Eye Department of Mandel Clinic, complain ing of poor vision. She was quite illiterate and therefore appeared with her husband, who stated she had told him that her vision had been poor since childhood and that for this reason she had never at tended school. Her vision always seemed better during the day than at night. There was no family history of poor vision. Since the patient was known to be a hypertensive (having had a cerebrovascular accident two years previously and giving a history of dyspnea, orthopnea, and leg edema), a controlled diabetic, and luetic, it was decided to hospitalize her for a complete work-up. Significant general findings were confined to the cardiovascular and neurologic systems. Under the former there was evidence of moderate cardiac failure with blood pres sure 210/120. She had slurred speech, bilateral Hoffman-Babinski signs, and exhibited spontaneous laughing and cry ing. The blood Wassermann test was four plus, as was the spinal-fluid Wassermann, which showed a paretic-type gold curve. The blood sugar was normal. The vision in each eye was confined to the counting of fingers at three feet. The eyes appeared normal externally except for Argyll Robertson type pupils. Slitlamp examination of the left eye uncov ered no abnormal findings other than faint old superficial scarring of the cor nea. In the right eye the cornea showed similar scarring, but in addition there were many pigmented deposits on the
NOTES, CASES, INSTRUMENTS posterior surface. The anterior chamber was of moderate depth, a faint aqueous flare and an occasional cell being visible. The iris appeared normal except for posterior synechias between the 7- and 9-o'clock positions. There were patches of iris pigment on the anterior lens cap sule. The lens showed a few scattered opacities in the anterior cortex and an early posterior saucer-shaped cataract. Both fundi presented the same picture. They were greenish-white in color, ex cept for the macular area, where there was an island of pink. There was a com plete absence of choroidal vessels. The retinal arteries were thinner than normal and rather straight, with but little branch ing. Pigment granules were clumped sparsely over the entire fundus. The disc appeared normal in size, outline, and color. The pupil of the right eye was not dilated enough for fundus photography. The accompanying figure is a photograph of the left fundus. Visual fields could not be taken because of the uncoöperativeness of the patient. Obviously many complicating factors enter into the diagnosis of this case. It might be argued that it is a secondary choroidal atrophy on a luetic basis. How ever, Dr. Robert von der Heydt, 3 who photographed the fundus of the left eye, and who has seen five previous cases of choroideremia, agrees with us in main taining that the fundi here show the exact picture of choroideremia, and that the
other ophthalmologic and general findings are coincidental. In the light of Verhoeff's4 caution as to confusing this picture with that of gliosis of the retina, the fundi were reexamined and found as herein described, with no widespread gliosis, as he found
Fig. 1 (Shapira and Sitney). Fundus of the left eye in a case of choroideremia, clinically diagnosed in a woman (photograph by Dr. von der Heydt).
in cases of retinitis pigmentosa. Of course, we agree with Verhoeff in his statement that true choroideremia must be demonstrated histologically before it can be established as an existing entity. However, the following significant find ings stand out in this case : 1. This is the second case on record occurring in a female. 2. There was a complete absence of the choroid and its vessels. 3. Vision has always been very poor from childhood on, in contradistinction to the slowly progressive decrease in vision seen in retinitis pigmentosa. 58 East Washington Street.
REFERENCES 1
Bedell, A. J. Choroideremia. Arch, of Ophth., 1938, v. 17, pp. 444-467. Friedman, Benjamin. Choroideremia. Arch, of Ophth., 1940, v. 23, pp. 1285-1287. * Von der Heydt. Personal communication. 4 Verhoeff, F. H. Arch, of Ophth, 1942, v. 27, p. 688. 2
183
AND
M.D.
Chicago
Since Mauthner's original description of choroideremia in 1871, 30 additional reports of this disease have appeared in the literature. Bedell1 published an ex haustive study and review of the litera ture in 1938, and Friedman added a single case report in 1940.2 Choroideremia is a nonprogressive disease characterized by a bilateral ab sence of the choroid and accompanied by night blindness and visual-field contrac tion, but with preservation of central vi sion, at least until very late in the devel opment of the disease. All but one of the cases reported have been in males. There is a typical fundus picture, since most of the choroid and pigment epithelium is ab sent. The fundus appears white or green ish-white, with an island of normal red color only in the macular area. Choroidal vessels may be entirely absent or a few small vessels may remain. There are gen erally a few clumps of scattered pigment. The retinal circulation is usually normal in appearance, with occasionally some what narrow arteries. In only a single pa tient were the vessels described as very narrow. The discs are normal. Fried man's report presents an excellent differ ential diagnosis from retinitis pigmentosa. The nature of the condition, whether congenital or acquired, has not yet been determined. Bedell believes that it is a dissolution of choroid developing during the life of the patient, and therefore not a congenital absence. There have been no pathologic examinations. We are reporting the following case of choroideremia not only because of the rarity of the disease but also because of
the unusual aspects of this one. First, only once before has choroideremia been described in a female. Second, because of the associated local and general pathology, the ophthalmologic picture was almost overlooked as being one of choroideremia. A. T., a white woman, aged 52 years, was seen in November, 1941, in the Eye Department of Mandel Clinic, complain ing of poor vision. She was quite illiterate and therefore appeared with her husband, who stated she had told him that her vision had been poor since childhood and that for this reason she had never at tended school. Her vision always seemed better during the day than at night. There was no family history of poor vision. Since the patient was known to be a hypertensive (having had a cerebrovascular accident two years previously and giving a history of dyspnea, orthopnea, and leg edema), a controlled diabetic, and luetic, it was decided to hospitalize her for a complete work-up. Significant general findings were confined to the cardiovascular and neurologic systems. Under the former there was evidence of moderate cardiac failure with blood pres sure 210/120. She had slurred speech, bilateral Hoffman-Babinski signs, and exhibited spontaneous laughing and cry ing. The blood Wassermann test was four plus, as was the spinal-fluid Wassermann, which showed a paretic-type gold curve. The blood sugar was normal. The vision in each eye was confined to the counting of fingers at three feet. The eyes appeared normal externally except for Argyll Robertson type pupils. Slitlamp examination of the left eye uncov ered no abnormal findings other than faint old superficial scarring of the cor nea. In the right eye the cornea showed similar scarring, but in addition there were many pigmented deposits on the
NOTES, CASES, INSTRUMENTS posterior surface. The anterior chamber was of moderate depth, a faint aqueous flare and an occasional cell being visible. The iris appeared normal except for posterior synechias between the 7- and 9-o'clock positions. There were patches of iris pigment on the anterior lens cap sule. The lens showed a few scattered opacities in the anterior cortex and an early posterior saucer-shaped cataract. Both fundi presented the same picture. They were greenish-white in color, ex cept for the macular area, where there was an island of pink. There was a com plete absence of choroidal vessels. The retinal arteries were thinner than normal and rather straight, with but little branch ing. Pigment granules were clumped sparsely over the entire fundus. The disc appeared normal in size, outline, and color. The pupil of the right eye was not dilated enough for fundus photography. The accompanying figure is a photograph of the left fundus. Visual fields could not be taken because of the uncoöperativeness of the patient. Obviously many complicating factors enter into the diagnosis of this case. It might be argued that it is a secondary choroidal atrophy on a luetic basis. How ever, Dr. Robert von der Heydt, 3 who photographed the fundus of the left eye, and who has seen five previous cases of choroideremia, agrees with us in main taining that the fundi here show the exact picture of choroideremia, and that the
other ophthalmologic and general findings are coincidental. In the light of Verhoeff's4 caution as to confusing this picture with that of gliosis of the retina, the fundi were reexamined and found as herein described, with no widespread gliosis, as he found
Fig. 1 (Shapira and Sitney). Fundus of the left eye in a case of choroideremia, clinically diagnosed in a woman (photograph by Dr. von der Heydt).
in cases of retinitis pigmentosa. Of course, we agree with Verhoeff in his statement that true choroideremia must be demonstrated histologically before it can be established as an existing entity. However, the following significant find ings stand out in this case : 1. This is the second case on record occurring in a female. 2. There was a complete absence of the choroid and its vessels. 3. Vision has always been very poor from childhood on, in contradistinction to the slowly progressive decrease in vision seen in retinitis pigmentosa. 58 East Washington Street.
REFERENCES 1
Bedell, A. J. Choroideremia. Arch, of Ophth., 1938, v. 17, pp. 444-467. Friedman, Benjamin. Choroideremia. Arch, of Ophth., 1940, v. 23, pp. 1285-1287. * Von der Heydt. Personal communication. 4 Verhoeff, F. H. Arch, of Ophth, 1942, v. 27, p. 688. 2
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