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Brown's Syndrome in Twins
562
May, 1988
AMERICAN JOURNAL OF OPHTHALMOLOGY
disk showed slight edema. The left eye was normal. Fluorescein fundus angiography con firmed the diagnosis, 1 and showed a slight leakage in the macular area. Results of electroretinography and electro-oculography were normal. Static perimetry of the right eye dis closed a relative central defect of 7 dB. Color vision testing with a Nagel anomaloscope showed an obvious pseudoprotanomaly (mean match, 52 ± 2 S.D.; normal range, 42 ± 2 S.D.). Results of a Farnsworth Panel D-15 test and Ishihara and Hardy-Rand-Rittler tests were normal. Foveal densitometry with the Utrecht retinal densitometer 4 on the preferred, foveal fixating point of the right eye demonstrated a profound disturbance of cone photopigment kinetics. The density difference between fully dark-adapted and fully bleached was 0.05 (nor mal mean, 0.32 ± 0.03 S.D.) with a strongly increased time constant of pigment regenera tion of 218 ± 77 seconds (normal mean, 99 ± 10 seconds). Laboratory serum tests did not show increased serum levels of total IgG and total IgM, as reported recently. 5 Results of serum tests of IgA, C3, C4, C-reactive protein, VDRL, antinuclear antibody, rheumatoid factor, HLAB27, Toxoplasma, erythrocyte sedimentation rate, and IgM of herpes zoster and herpes simplex were negative. Immunofluorescence of herpes simplex IgG was 1:64 and varicella zos ter was >1:1,024. Within two weeks after the patient's first visit, visual acuity was R.E.: 20/20. The density difference had improved to 0.12 and the time constant of pigment regeneration was 98 ± 19 seconds. The pseudoprotanomaly was less ob vious (mid match, 48 ± 5 S.D.). Results of an electroretinogram and an electro-oculogram were normal. Four weeks after the first visit, visual acuity was R.E.: 20/16. Examination of the fundus showed perifoveal retinal pigment epithelium granularity. The dots had complete ly disappeared. The density difference re mained 0.12, and the time constant was 84 ± 19 seconds. Static perimetry showed a relative central defect of 2 dB and a mid match of 45 ± 2 S.D. was noted on anomaloscopy. On fluores cein fundus angiography the optic disk edema had obviously decreased. No macular leakage was observed, although some window defects were noted. With regard to the granularity, these defects were less than expected. Eight weeks after onset, visual acuity was R.E.: 20/13; results of color vision tests, visual fields, and densitometric registration were within normal limits. Immunofluorescence of herpes simplex
IgG was negative and varicella zoster IgG was 1:1,024. In conclusion, we confirmed by retinal densi tometry that in the multiple evanescent whitedot syndrome, gross abnormalities exist during the active stage at the level of the cone photoreceptor outer segments, even with normal electroretinographic findings. This has been suggested in cases with abnormal electroreti nographic findings. The anomaloscopic results corroborate these results. The low density and increased time constant of pigment regenera tion during the active stage, together with a slight leakage of dye in the macula on fluores cein angiography, confirm the proposed model of transient metabolic disturbance at the level of the pigment epithelium-photoreceptor com plex.
References 1. Jampol, L. M., Sieving, P. A., Pugh, D., Fishman, G. A., and Gilbert, H.: Multiple evanescent white-dot syndrome. I. Clinical findings. Arch. Ophthalmol. 102:671, 1984. 2. Sieving, P. A., Fishman, G. A., Jampol, L. M., and Pugh, D.: Multiple evanescent white-dot syn drome. II. Electrophysiology of the photoreceptors during retinal pigment epithelial disease. Arch. Ophthalmol. 102:675, 1984. 3. Aaberg, T. M., Campo, R. V., and Joffe, L.: Recurrences and bilaterality in the multiple evanes cent white-dot syndrome. Am. J. Ophthalmol. 100:29, 1985. 4. Van Norren, D., and van der Kraats, J.: A continuously recording retinal densitometer. Vis. Res. 21:897, 1981. 5. Chung, Y.-M., Yeh, T.-S., and Liu, J.-H.: In creased serum IgM and IgG in the multiple evanes cent white-dot syndrome. Am. J. Ophthalmol. 104:187, 1987.
Brown's Syndrome in Twins Edwin Wortham V, M.D., and J. S. Crawford, M.D. Department of Ophthalmology, Hospital for Sick Children. Inquiries to J. S. Crawford, M.D., Department of Ophthalmology, Hospital for Sick Children, 555 University Ave., Toronto, Ontario, Canada M5G 1X8. The superior oblique tendon syndrome, a motility defect manifested by a deficiency of
Vol. 105, No. 5
Letters to the Journal
elevation of the adducted eye, was originally described by Brown 1 in 1950. Katz, Whitmore, and Beauchamp 2 reported a case of Brown's syndrome in monozygotic twin girls. Although evidence of genetic influence in Brown's syn drome is scant, scattered case reports suggest that it may be transmitted by an autosomal dominant gene with variable penetrance. 3 We examined monozygotic twin girls at 23/4 years of age. On examination, the first twin had a right esotropia of 40 prism diopters, absence of elevation in adduction of the right eye, and right amblyopia. Results of examination of the second twin showed mirror imaging of the same symptoms. She had a left esotropia of 40 prism diopters, absence of elevation in adduc tion of the left eye, and left amblyopia (Figure). Although born six weeks prematurely, both girls had normal refractive errors for their age. There was no history of ocular or birth trauma, and no family history of strabismus. Results of laboratory studies of the ABO, Rh, MNS, and Lewis blood group systems from both the twins and their parents disclosed a 97% probability that these twins are monozygous. A combined superior oblique muscle tenotomy and an inferior oblique muscle recession was performed on the involved eye of each girl. Intraoperatively, limitation of elevation in ad duction was noted in the involved eye of each child. No other abnormality of duction was found. Brown subdivided this condition into true and simulated syndromes. True (congenital) Brown's syndrome includes only those cases that have a congenitally short anterior sheath of the superior oblique tendon. Simulated Brown's syndrome includes all cases with fea-
563
tures similar to those of the true group. Both are further classified as spontaneous recovery cases, intermittent cases, and acquired cases. 4 It is now agreed that most of true Brown's syndrome cases result from a tight superior oblique tendon. 5 The cause of the mirror imaging in our pa tients is not certain. It is highly unlikely that a gestational insult occurred before monozygotic cleavage. This insult would have to have been instantaneous, approximately two weeks in gestation, and well localized to have affected only the superior oblique muscle complex. We believe that this case provides further evidence of a genetic basis for some cases of Brown's syndrome.
References 1. Brown, H. W.: Congenital structural muscle anomalies. In Allen, J. H. (ed.): Strabismus Ophthal mic Symposium. St. Louis, C. V. Mosby, 1950, p. 205. 2. Katz, N. N. K., Whitmore, P. V., and Beauchamp, G. R.: Brown's syndrome in twins. J. Pediatr. Ophthalmol. Strabismus 18:32, 1981. 3. Gowan, M., and Levy, J.: Heredity in the superi or oblique tendon sheath syndrome. Br. Orthoptic J. 25:91, 1968. 4. Brown, H. W.: True and simulated superior oblique tendon sheath syndromes. Doc. Ophthal mol. 34:123, 1973. 5. Crawford, J. S.: Surgical treatment of true Brown's syndrome. Am. J. Ophthalmol. 81:289, 1976.
Cartilagenous Choristoma of the Eyelid Tarsus Joseph A. Mauriello, Jr., M . D . , James A. V o g l i n o , B.A., and Nuflo Otazo, M . D . Oculoplastics and Ophthalmic Pathology Sections, Department of Ophthalmology, UMDNJ—New Jer sey Medical School, Eye Institute of New Jersey.
Figure (Wortham and Crawford). Brown's syn drome in monozygotic twins. Note the absence of elevation of the outer eye in each twin.
Inquiries to Joseph A. Mauriello, Jr., M.D., Department of Ophthalmology, UMDNJ—New Jersey Medical School, 15 S. Ninth St., Newark, NJ 07107. Cartilage in the orbit is usually found only at the trochlea. Bowen and associates 1 reported a case of a cartilagenous hamartoma of the orbit.
May, 1988
AMERICAN JOURNAL OF OPHTHALMOLOGY
disk showed slight edema. The left eye was normal. Fluorescein fundus angiography con firmed the diagnosis, 1 and showed a slight leakage in the macular area. Results of electroretinography and electro-oculography were normal. Static perimetry of the right eye dis closed a relative central defect of 7 dB. Color vision testing with a Nagel anomaloscope showed an obvious pseudoprotanomaly (mean match, 52 ± 2 S.D.; normal range, 42 ± 2 S.D.). Results of a Farnsworth Panel D-15 test and Ishihara and Hardy-Rand-Rittler tests were normal. Foveal densitometry with the Utrecht retinal densitometer 4 on the preferred, foveal fixating point of the right eye demonstrated a profound disturbance of cone photopigment kinetics. The density difference between fully dark-adapted and fully bleached was 0.05 (nor mal mean, 0.32 ± 0.03 S.D.) with a strongly increased time constant of pigment regenera tion of 218 ± 77 seconds (normal mean, 99 ± 10 seconds). Laboratory serum tests did not show increased serum levels of total IgG and total IgM, as reported recently. 5 Results of serum tests of IgA, C3, C4, C-reactive protein, VDRL, antinuclear antibody, rheumatoid factor, HLAB27, Toxoplasma, erythrocyte sedimentation rate, and IgM of herpes zoster and herpes simplex were negative. Immunofluorescence of herpes simplex IgG was 1:64 and varicella zos ter was >1:1,024. Within two weeks after the patient's first visit, visual acuity was R.E.: 20/20. The density difference had improved to 0.12 and the time constant of pigment regeneration was 98 ± 19 seconds. The pseudoprotanomaly was less ob vious (mid match, 48 ± 5 S.D.). Results of an electroretinogram and an electro-oculogram were normal. Four weeks after the first visit, visual acuity was R.E.: 20/16. Examination of the fundus showed perifoveal retinal pigment epithelium granularity. The dots had complete ly disappeared. The density difference re mained 0.12, and the time constant was 84 ± 19 seconds. Static perimetry showed a relative central defect of 2 dB and a mid match of 45 ± 2 S.D. was noted on anomaloscopy. On fluores cein fundus angiography the optic disk edema had obviously decreased. No macular leakage was observed, although some window defects were noted. With regard to the granularity, these defects were less than expected. Eight weeks after onset, visual acuity was R.E.: 20/13; results of color vision tests, visual fields, and densitometric registration were within normal limits. Immunofluorescence of herpes simplex
IgG was negative and varicella zoster IgG was 1:1,024. In conclusion, we confirmed by retinal densi tometry that in the multiple evanescent whitedot syndrome, gross abnormalities exist during the active stage at the level of the cone photoreceptor outer segments, even with normal electroretinographic findings. This has been suggested in cases with abnormal electroreti nographic findings. The anomaloscopic results corroborate these results. The low density and increased time constant of pigment regenera tion during the active stage, together with a slight leakage of dye in the macula on fluores cein angiography, confirm the proposed model of transient metabolic disturbance at the level of the pigment epithelium-photoreceptor com plex.
References 1. Jampol, L. M., Sieving, P. A., Pugh, D., Fishman, G. A., and Gilbert, H.: Multiple evanescent white-dot syndrome. I. Clinical findings. Arch. Ophthalmol. 102:671, 1984. 2. Sieving, P. A., Fishman, G. A., Jampol, L. M., and Pugh, D.: Multiple evanescent white-dot syn drome. II. Electrophysiology of the photoreceptors during retinal pigment epithelial disease. Arch. Ophthalmol. 102:675, 1984. 3. Aaberg, T. M., Campo, R. V., and Joffe, L.: Recurrences and bilaterality in the multiple evanes cent white-dot syndrome. Am. J. Ophthalmol. 100:29, 1985. 4. Van Norren, D., and van der Kraats, J.: A continuously recording retinal densitometer. Vis. Res. 21:897, 1981. 5. Chung, Y.-M., Yeh, T.-S., and Liu, J.-H.: In creased serum IgM and IgG in the multiple evanes cent white-dot syndrome. Am. J. Ophthalmol. 104:187, 1987.
Brown's Syndrome in Twins Edwin Wortham V, M.D., and J. S. Crawford, M.D. Department of Ophthalmology, Hospital for Sick Children. Inquiries to J. S. Crawford, M.D., Department of Ophthalmology, Hospital for Sick Children, 555 University Ave., Toronto, Ontario, Canada M5G 1X8. The superior oblique tendon syndrome, a motility defect manifested by a deficiency of
Vol. 105, No. 5
Letters to the Journal
elevation of the adducted eye, was originally described by Brown 1 in 1950. Katz, Whitmore, and Beauchamp 2 reported a case of Brown's syndrome in monozygotic twin girls. Although evidence of genetic influence in Brown's syn drome is scant, scattered case reports suggest that it may be transmitted by an autosomal dominant gene with variable penetrance. 3 We examined monozygotic twin girls at 23/4 years of age. On examination, the first twin had a right esotropia of 40 prism diopters, absence of elevation in adduction of the right eye, and right amblyopia. Results of examination of the second twin showed mirror imaging of the same symptoms. She had a left esotropia of 40 prism diopters, absence of elevation in adduc tion of the left eye, and left amblyopia (Figure). Although born six weeks prematurely, both girls had normal refractive errors for their age. There was no history of ocular or birth trauma, and no family history of strabismus. Results of laboratory studies of the ABO, Rh, MNS, and Lewis blood group systems from both the twins and their parents disclosed a 97% probability that these twins are monozygous. A combined superior oblique muscle tenotomy and an inferior oblique muscle recession was performed on the involved eye of each girl. Intraoperatively, limitation of elevation in ad duction was noted in the involved eye of each child. No other abnormality of duction was found. Brown subdivided this condition into true and simulated syndromes. True (congenital) Brown's syndrome includes only those cases that have a congenitally short anterior sheath of the superior oblique tendon. Simulated Brown's syndrome includes all cases with fea-
563
tures similar to those of the true group. Both are further classified as spontaneous recovery cases, intermittent cases, and acquired cases. 4 It is now agreed that most of true Brown's syndrome cases result from a tight superior oblique tendon. 5 The cause of the mirror imaging in our pa tients is not certain. It is highly unlikely that a gestational insult occurred before monozygotic cleavage. This insult would have to have been instantaneous, approximately two weeks in gestation, and well localized to have affected only the superior oblique muscle complex. We believe that this case provides further evidence of a genetic basis for some cases of Brown's syndrome.
References 1. Brown, H. W.: Congenital structural muscle anomalies. In Allen, J. H. (ed.): Strabismus Ophthal mic Symposium. St. Louis, C. V. Mosby, 1950, p. 205. 2. Katz, N. N. K., Whitmore, P. V., and Beauchamp, G. R.: Brown's syndrome in twins. J. Pediatr. Ophthalmol. Strabismus 18:32, 1981. 3. Gowan, M., and Levy, J.: Heredity in the superi or oblique tendon sheath syndrome. Br. Orthoptic J. 25:91, 1968. 4. Brown, H. W.: True and simulated superior oblique tendon sheath syndromes. Doc. Ophthal mol. 34:123, 1973. 5. Crawford, J. S.: Surgical treatment of true Brown's syndrome. Am. J. Ophthalmol. 81:289, 1976.
Cartilagenous Choristoma of the Eyelid Tarsus Joseph A. Mauriello, Jr., M . D . , James A. V o g l i n o , B.A., and Nuflo Otazo, M . D . Oculoplastics and Ophthalmic Pathology Sections, Department of Ophthalmology, UMDNJ—New Jer sey Medical School, Eye Institute of New Jersey.
Figure (Wortham and Crawford). Brown's syn drome in monozygotic twins. Note the absence of elevation of the outer eye in each twin.
Inquiries to Joseph A. Mauriello, Jr., M.D., Department of Ophthalmology, UMDNJ—New Jersey Medical School, 15 S. Ninth St., Newark, NJ 07107. Cartilage in the orbit is usually found only at the trochlea. Bowen and associates 1 reported a case of a cartilagenous hamartoma of the orbit.