CRYSTALLINE RETINOPATHY W. S A N D E R S O N G R I Z Z A R D , M.D., A U G U S T F. D E U T M A N , M.D., F R A N S N I J H U I S , M.D., AND A L B E R T A A N D E KERK Nijmegen,
The
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In 1937 Bietti described three cases (two of which involved siblings) of a tapetoretinal degeneration characterized by (1) yellow glistening intraretinal crys tals in the posterior pole, (2) tapetoretinal degeneration with sclerosis of the choroid, and (3) a crystalline dystrophy of the cornea. Further reports of this unusual dystrophy have been rare. However, in 1968 Bagolini and Ioli-Spada 2 reported six additional cases from Professor Biet ti's eye clinic in Rome. All of these pa tients showed both corneal and ophthalmoscopic findings as previously de scribed. In 1977 Francois and DeLaey 3 reported two cases as Bietti's crystalline fundus dystrophy, but the patients failed to dem onstrate the peripheral corneal changes that had been observed in the earlier cases. Other researchers have also described patients with intraretinal crystals, choroidal atrophy, and pigment clumping in the periphery, but have not reported their cases as Bietti's crystalline fundus dystro phy (Table). We describe herein another patient with these characteristics in the fundus, but no corneal abnormalities. S U B J E C T S AND M E T H O D S
The patient and her family underwent complete ophthalmologic examination in cluding refraction, applanation tonometry, indirect ophthalmoscopy, biomicroscopic examination of the anterior seg ment, and contact lens examination of the From The Institute of Ophthalmology, University of Nijmegen, Nijmegen, The Netherlands. Reprint requests to August F. Deutman, M.D., the .institute of Ophthalmology, University of Nijme gen, Philips van Leydenlaan 15, Nijmegen, The Netherlands.
Netherlands
posterior pole. Visual field examination was performed using the Goldmann pe rimeter. Color vision was tested with the AO-HRR pseudoisochromatic plates, a modified Farnsworth panel D-15, the 100-Hue test, and a Nagel II anomaloscope. The methods of electroretinography, electro-oculography, dark adapta tion studies, and fluorescein angiography have been described in detail in previous reports. 4 ' 5 Complete blood cell count, serum cholesterol, serum triglycerides, peripheral blood smear, and serum electrophoresis were done by routine labora tory methods. Serum and a 24-hour urine sample were analyzed for amino acids by using a Beckman/multichrome amino acid analyzer. Lipoprotein electrophoresis was performed by routine laboratory methods with a cellulose-acetate base. CASE REPORT A 34-year-old white woman came to the Universi ty Eye Clinic in Nijmegen complaining of slowly diminishing visual acuity. She had not experienced night blindness or photophobia. She had no history of kidney disease or other serious illnesses. The patient was one of six children of a consanguineous marriage (Fig. 1). The family history was noncontributory for eye disease. Her visual acuity was 6/9 (20/30) in both eyes. The cornea was normal, as was the intraocular pressure. The vitreous was clear. Although there were no peripheral stromal crystals, ophthalmoscopic exami nation revealed in the posterior pole, confined to the major temporal vascular arcades, numerous glisten ing crystals one-half to one-third the size of a vessel at the disk. There was marked loss of pigment epithelium and choriocapillaris and pigment clump ing in the fovea. Peripheral retricular pigmentation resembled senile reticular pigment degeneration, 6 although it did not invade the retina along the veins as in retinitis pigmentosa. The crystals appeared in the inner and middle retinal layers. The pigment epithelium and choroid were preserved in the fovea. The disk appeared normal in color and size, and the retinal vessels were not attenuated (Figs. 2 and 3). Electrophysiologic testing showed a normal electroretinogram with normal cone and rod function as measured by dark adaptation, flicker, and red and
AMERICAN JOURNAL O F OPHTHALMOLOGY 86:81-88, 1978
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I not examined and probably unaffected female and male examined and unaffected female and male examined and affected female and male consanguinous marriage
Fig. 1 (Grizzard and associates). Pedigree of con sanguinity of the parents of the proband with crys talline dystrophy. Autosomal recessive inheritance is probable.
JULY, 1978
blue stimuli. The electro-oculogram was flat with no rise during light adaptation. The color vision studies showed a mild red-green defect with the AO-HRR plates, the panel D-15, and the 100-Hue test. The Nagel II anomaloscope showed decreased red sensi tivity. The visual fields revealed bilateral annular scotomas. Dark adaptation studies showed a slightly delayed rod adaptation of 0.5 log units. Fluorescein angiography demonstrated partial loss of the choriocapillaris and pigment epithelium. The crystals nei ther accumulated nor transmitted fluorescein. There were prominent areas of circular, well defined choriocapillaris atrophy and larger areas of pigment epithelial loss (Figs. 4 and 5). On examination, the siblings and parents were found to be normal. The parents underwent electrooculography. The father had a slightly reduced light to dark ratio in both eyes (R.E.: 1.50; L.E.: 1.78): the mother had decreased light rise in the left eye only (R.E.: 1.96; L.E.: 1.68). (Normal ratio is 1.85.) The hematocrit was 44%. No acanthocytosis was seen. Amino acid analysis of urine and serum was normal. Serum cholesterol was 6.09 mM/1 (normal, 4.7 to 7.5). Serum triglycerides were 1.04 mM/1 (normal, 0.8 to 2.0). Lipoprotein electrophoresis in the patient showed a slightly increased alpha frac tion, normal pre-beta fraction, and a slightly re duced beta fraction, whereas it was normal in both parents. DISCUSSION
In the cases of ophthalmoscopically visible crystals in the retina, described by Bietti 1 and Bagolini and Ioli-Spada, 2 the fundus showed a "crystalline and glitter ing" retinopathy with bone corpuscle pigmentation in the periphery and ap-
Fig. 2 (Grizzard and associates). Left, Right posterior pole with many white crystals localized in the inner and middle retinal layers. Disk and vessels are normal. Right, There is also atrophy of the retinal pigment epithelium and choriocapillaris.
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Fig. 3 (Grizzard and JSVJC.U!I.S;. L d ! , Left posterior pole with essentially the same abnormalities as the right posterior pole (right).
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The
1
In 1937 Bietti described three cases (two of which involved siblings) of a tapetoretinal degeneration characterized by (1) yellow glistening intraretinal crys tals in the posterior pole, (2) tapetoretinal degeneration with sclerosis of the choroid, and (3) a crystalline dystrophy of the cornea. Further reports of this unusual dystrophy have been rare. However, in 1968 Bagolini and Ioli-Spada 2 reported six additional cases from Professor Biet ti's eye clinic in Rome. All of these pa tients showed both corneal and ophthalmoscopic findings as previously de scribed. In 1977 Francois and DeLaey 3 reported two cases as Bietti's crystalline fundus dystrophy, but the patients failed to dem onstrate the peripheral corneal changes that had been observed in the earlier cases. Other researchers have also described patients with intraretinal crystals, choroidal atrophy, and pigment clumping in the periphery, but have not reported their cases as Bietti's crystalline fundus dystro phy (Table). We describe herein another patient with these characteristics in the fundus, but no corneal abnormalities. S U B J E C T S AND M E T H O D S
The patient and her family underwent complete ophthalmologic examination in cluding refraction, applanation tonometry, indirect ophthalmoscopy, biomicroscopic examination of the anterior seg ment, and contact lens examination of the From The Institute of Ophthalmology, University of Nijmegen, Nijmegen, The Netherlands. Reprint requests to August F. Deutman, M.D., the .institute of Ophthalmology, University of Nijme gen, Philips van Leydenlaan 15, Nijmegen, The Netherlands.
Netherlands
posterior pole. Visual field examination was performed using the Goldmann pe rimeter. Color vision was tested with the AO-HRR pseudoisochromatic plates, a modified Farnsworth panel D-15, the 100-Hue test, and a Nagel II anomaloscope. The methods of electroretinography, electro-oculography, dark adapta tion studies, and fluorescein angiography have been described in detail in previous reports. 4 ' 5 Complete blood cell count, serum cholesterol, serum triglycerides, peripheral blood smear, and serum electrophoresis were done by routine labora tory methods. Serum and a 24-hour urine sample were analyzed for amino acids by using a Beckman/multichrome amino acid analyzer. Lipoprotein electrophoresis was performed by routine laboratory methods with a cellulose-acetate base. CASE REPORT A 34-year-old white woman came to the Universi ty Eye Clinic in Nijmegen complaining of slowly diminishing visual acuity. She had not experienced night blindness or photophobia. She had no history of kidney disease or other serious illnesses. The patient was one of six children of a consanguineous marriage (Fig. 1). The family history was noncontributory for eye disease. Her visual acuity was 6/9 (20/30) in both eyes. The cornea was normal, as was the intraocular pressure. The vitreous was clear. Although there were no peripheral stromal crystals, ophthalmoscopic exami nation revealed in the posterior pole, confined to the major temporal vascular arcades, numerous glisten ing crystals one-half to one-third the size of a vessel at the disk. There was marked loss of pigment epithelium and choriocapillaris and pigment clump ing in the fovea. Peripheral retricular pigmentation resembled senile reticular pigment degeneration, 6 although it did not invade the retina along the veins as in retinitis pigmentosa. The crystals appeared in the inner and middle retinal layers. The pigment epithelium and choroid were preserved in the fovea. The disk appeared normal in color and size, and the retinal vessels were not attenuated (Figs. 2 and 3). Electrophysiologic testing showed a normal electroretinogram with normal cone and rod function as measured by dark adaptation, flicker, and red and
AMERICAN JOURNAL O F OPHTHALMOLOGY 86:81-88, 1978
81
82
AMERICAN JOURNAL OF OPHTHALMOLOGY
II
III
IV
6b 66 * i
I not examined and probably unaffected female and male examined and unaffected female and male examined and affected female and male consanguinous marriage
Fig. 1 (Grizzard and associates). Pedigree of con sanguinity of the parents of the proband with crys talline dystrophy. Autosomal recessive inheritance is probable.
JULY, 1978
blue stimuli. The electro-oculogram was flat with no rise during light adaptation. The color vision studies showed a mild red-green defect with the AO-HRR plates, the panel D-15, and the 100-Hue test. The Nagel II anomaloscope showed decreased red sensi tivity. The visual fields revealed bilateral annular scotomas. Dark adaptation studies showed a slightly delayed rod adaptation of 0.5 log units. Fluorescein angiography demonstrated partial loss of the choriocapillaris and pigment epithelium. The crystals nei ther accumulated nor transmitted fluorescein. There were prominent areas of circular, well defined choriocapillaris atrophy and larger areas of pigment epithelial loss (Figs. 4 and 5). On examination, the siblings and parents were found to be normal. The parents underwent electrooculography. The father had a slightly reduced light to dark ratio in both eyes (R.E.: 1.50; L.E.: 1.78): the mother had decreased light rise in the left eye only (R.E.: 1.96; L.E.: 1.68). (Normal ratio is 1.85.) The hematocrit was 44%. No acanthocytosis was seen. Amino acid analysis of urine and serum was normal. Serum cholesterol was 6.09 mM/1 (normal, 4.7 to 7.5). Serum triglycerides were 1.04 mM/1 (normal, 0.8 to 2.0). Lipoprotein electrophoresis in the patient showed a slightly increased alpha frac tion, normal pre-beta fraction, and a slightly re duced beta fraction, whereas it was normal in both parents. DISCUSSION
In the cases of ophthalmoscopically visible crystals in the retina, described by Bietti 1 and Bagolini and Ioli-Spada, 2 the fundus showed a "crystalline and glitter ing" retinopathy with bone corpuscle pigmentation in the periphery and ap-
Fig. 2 (Grizzard and associates). Left, Right posterior pole with many white crystals localized in the inner and middle retinal layers. Disk and vessels are normal. Right, There is also atrophy of the retinal pigment epithelium and choriocapillaris.
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Fig. 3 (Grizzard and JSVJC.U!I.S;. L d ! , Left posterior pole with essentially the same abnormalities as the right posterior pole (right).
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