PROGRESSIVE E X T E R N A L O P H T H A L M O P L E G I A AND BENIGN R E T I N A L P I G M E N T A T I O N B.
L.
BECKERMAN, M.D.,
AND P.
HENKIND,
M.D.
Bronx, New York Progressive external ophthalmoplegia is characterized by progressive blepharoptosis and ocular myopathy that usually begins in adolescence.1 It may be associated with a variety of systemic degenerations or abiotrophies.2 Cases are of a sporadic or familial (usually dominant) pattern and many have been associated with a pigmentary retinopathy of a progressive or benign nature. 3
apostilbs (10 7 log test field luminance is 3.42 apostilbs). An 11-degree target projecting 11 degrees superior to the fovea presented one second on and one second off intermittent stimuli. Color vision was evaluated with AO and Ishihara plates, and a D-15 panel under il lumination (Macbeth C) followed by the Nagel anomaloscope.
MATERIAL AND METHODS
CASE REPORT
Fluorescein angiography was performed by conventional methods. Electroretinograms (ERG) were recorded on a combined system for ERG-electro-oculogram (EOG) without a shielded environment. A photostimulator (Grass PS22) presented a 30-degree target at ten inches with Ping-Pong diffusers for ganzfeld illumination. It provided low and high intensity photopic and scotopic stimuli: 30 photopic flickers per second. The corneal potential was sampled by a contact lens electrode (Lovac) and amplified by a high gain alternating current electroence phalogram (EEG) amplifier (Brush) with common mode rejection or 80 dB and a band pass of 0.1 to 1,000 Hz. The tracings were displayed on an oscilliscope (Phillips 3233) with delay line and on an ink writing poly graph (Brush 440). Photopic illumination was 60 footcandles. Scotopic tracings were photographed after ten minutes of dark adaptation.
A 17-year-old boy was referred for progressive bilateral blepharoptosis of four years' duration that was a cosmetic concern. A neurologic evaluation had been performed with a tentative diagnosis of myasthenia gravis. Tensilon tests, however, were negative and there was no response to medication. There were no similar abnormalities in his family, and no history of night blindness, visual loss, or exposure to rubella virus. Visual acuity was 20/20 in both eyes with a negligible refractive error. A prominent bilateral blepharoptosis was evident with restriction of ocular rotations and an exotropia with preferred right fixation. Pupillary reactions were brisk. There was a salt-and-pepper pigmentary retinopathy with nor mal optic disks and vessels (Fig. I, top). Fluorescein angiography showed areas of hyperand hypopigmentation without leakage throughout the fundi. The retinal vascular pattern was unre markable (Fig. 1, bottom). Color testing and Goldmann visual fields were normal. The ERG showed photopic and scotopic responses of uniformly reduced amplitude and nor mal latent periods (Fig. 2). The dark adaptation curve was borderline but within normal limits (Fig. 3). An EEG was abnormal with occasional 3 to 5 Hz slow waves (theta waves). There was no spike or paroxysmal burst activity. The electrocardiogram was normal.
Dark adaptometry was performed on an adaptometer (Goldmann-Weekers) after five minutes of light adaptation to 4,200
DISCUSSION
Reports have described progressive exter nal ophthalmoplegia with pigmentary retinopathies varying from classical retinitis pigmentosa to a benign pigmentary disturb ance.4"6 Psychophysic and electrophysiologic studies have been infrequent.7 Botermans 3 suggested that full evaluation of retinal func tion is necessary to clarify the spectrum of
From Montefiore Hospital and Medical Center/ Albert Einstein College of Medicine, Bronx, New York. This study was supported in part by Na tional Institutes of Health grant EY 00063-4, and an unrestricted grant from Research to Prevent Blindness, Inc. Reprint requests to B. L. Beckerman, M.D., Montefiore Hospital and Medical Center, 111 E. 210th St., Bronx, NY 10467.
89
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AMERICAN JOURNAL OF OPHTHALMOLOGY
JANUARY, 1976
Fig. 1 (Beckerman and Henkind). Fundus photos and fluorescein angiograms showing diffuse hypoand hyperpigmentation (left, right eye; right, left eye). The vascular pattern is normal and no areas of leakage developed.
tapetoretinal disorders that is expected in this syndrome.3 The retinopathy in our patient resembled rubella retinopathy in boÜL clinical appear ance and test results. No other stigmata of intrauterine rubella were present, however. The ERG responses were of uniformly re duced amplitude and normal implicit times. A patchy loss of photoreceptors with normal function in the remaining retinal mosaic may have accounted for this anomaly. The benign nature of the retinopathy suggests a damag
ing insult at some stage of retinal develop ment or a selective cellular degeneration of an unknown cause. Patients presenting with progressive ex ternal ophthalmoplegia may have varying visual prognoses. Adequate evaluation of ret inal function is, therefore, an important part of the diagnostic evaluation in the progres sive external ophthalmoplegia syndrome. SUMMARY
A 17-year-old boy had progressive exter-
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Fig. 2 (Beckerman and Henkind). Electroretinographic response to scotopic SI blue. Patient response shows reduced a- and b-wave amplitude with normal implicit times. (Normal mean b-wave amplitude, 33S.4; S.D., 80.5; 174.3 to 496.4 = ±2 S.D.). Cali bration is 100 μν/cm and 20 msec/cm. nal ophthalmoplegia, normal visual acuity, and a pigmentary retinopathy. Neurologic evaluation showed an abnormal electroence phalogram with diffuse slow (theta) waves. Myasthenia gravis was excluded. Fluores cent angiography showed a normal vascular
pattern with diffuse hyper- and hypopigmentation. Results of retinal testing, includ ing color vision, visual fields, electroretinography, and dark adaptometry, were within normal limits except for a slightly subnormal electroretinogram with normal implicit times.
Fig. 3 (Beckerman and Henkind). Borderline normal dark adaptation curve (log illumination vs. time in minutes).
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AMERICAN JOURNAL OF OPHTHALMOLOGY
Progressive external ophthalmoplegia may be associated with either progressive or nonprogressive pigmentary retinopathies, and adequate evaluation of retinal function in these cases must be obtained. REFERENCES
1. Walsh, F. B., and Hoyt, W. F.: Clinical Neuro-Ophthalmology, 3rd ed. Baltimore, Williams and Wilkins, 1969, pp. 1254-1264. 2. Drachman, D. A. : Progressive external oph thalmoplegia : a finding associated with neurodegenerative disorders. In Smith, J. L. (ed).: NeuroOphthalmology, vol. 4. St. Louis, C. V. Mosby, 1968, pp. 124-138. 3. Botermahs, C. H. G. : Primary pigmentary de
JANUARY, 1976
generation. In Vinken, P. S., and Bruyn, G. W. (ëds.) : Handbook of Clinical Neurology, vol. 13. Amsterdam, New Holland Publishing Co., 1972, pp. 309-314. 4. Kearns, T. P., and Sayre, G. P. : Retinitis pigmentosa, external ophthalmoplegia, and complete heart block. Arch. Ophthalmol. 60:280, 1958. 5. Kearns, T. P. : External ophthalmoplegia ; pigmentary degeneration of the retina and cardiomyopathy. A newly recognized syndrome. Trans. Am. Ophthalmol. Soc. 63:559, 1965. 6. Chamlin, M., and Billet, E. : Ophthalmoplegia and pigmentary degeneration of the retina. Arch. Ophthalmol. 43:217, 1950. 7. Thorson, C, and Bell, W. E. : Progressive dystrophic external ophthalmoplegia with abiotrophic fundus changes. Arch. Ophthalmol. 62 :833, 1959.
OPHTHALMIC MINIATURE
Hollowed or concave glasses obviate the need for greater proximity. As round or convex spectacles draw in the rays, so these turn them out till their increased divergence is equivalent to the superior force of the eye. Thus spectacles are a remedy for opposite defects. One sees ob scurely what is under his nose—another is blind to all that is not—and a glass gives the mole the range of the eagle, and suffers the eagle to con fine its vision like the mole. Spectacles Quart. Rev. Vol. 87, 1850
L.
BECKERMAN, M.D.,
AND P.
HENKIND,
M.D.
Bronx, New York Progressive external ophthalmoplegia is characterized by progressive blepharoptosis and ocular myopathy that usually begins in adolescence.1 It may be associated with a variety of systemic degenerations or abiotrophies.2 Cases are of a sporadic or familial (usually dominant) pattern and many have been associated with a pigmentary retinopathy of a progressive or benign nature. 3
apostilbs (10 7 log test field luminance is 3.42 apostilbs). An 11-degree target projecting 11 degrees superior to the fovea presented one second on and one second off intermittent stimuli. Color vision was evaluated with AO and Ishihara plates, and a D-15 panel under il lumination (Macbeth C) followed by the Nagel anomaloscope.
MATERIAL AND METHODS
CASE REPORT
Fluorescein angiography was performed by conventional methods. Electroretinograms (ERG) were recorded on a combined system for ERG-electro-oculogram (EOG) without a shielded environment. A photostimulator (Grass PS22) presented a 30-degree target at ten inches with Ping-Pong diffusers for ganzfeld illumination. It provided low and high intensity photopic and scotopic stimuli: 30 photopic flickers per second. The corneal potential was sampled by a contact lens electrode (Lovac) and amplified by a high gain alternating current electroence phalogram (EEG) amplifier (Brush) with common mode rejection or 80 dB and a band pass of 0.1 to 1,000 Hz. The tracings were displayed on an oscilliscope (Phillips 3233) with delay line and on an ink writing poly graph (Brush 440). Photopic illumination was 60 footcandles. Scotopic tracings were photographed after ten minutes of dark adaptation.
A 17-year-old boy was referred for progressive bilateral blepharoptosis of four years' duration that was a cosmetic concern. A neurologic evaluation had been performed with a tentative diagnosis of myasthenia gravis. Tensilon tests, however, were negative and there was no response to medication. There were no similar abnormalities in his family, and no history of night blindness, visual loss, or exposure to rubella virus. Visual acuity was 20/20 in both eyes with a negligible refractive error. A prominent bilateral blepharoptosis was evident with restriction of ocular rotations and an exotropia with preferred right fixation. Pupillary reactions were brisk. There was a salt-and-pepper pigmentary retinopathy with nor mal optic disks and vessels (Fig. I, top). Fluorescein angiography showed areas of hyperand hypopigmentation without leakage throughout the fundi. The retinal vascular pattern was unre markable (Fig. 1, bottom). Color testing and Goldmann visual fields were normal. The ERG showed photopic and scotopic responses of uniformly reduced amplitude and nor mal latent periods (Fig. 2). The dark adaptation curve was borderline but within normal limits (Fig. 3). An EEG was abnormal with occasional 3 to 5 Hz slow waves (theta waves). There was no spike or paroxysmal burst activity. The electrocardiogram was normal.
Dark adaptometry was performed on an adaptometer (Goldmann-Weekers) after five minutes of light adaptation to 4,200
DISCUSSION
Reports have described progressive exter nal ophthalmoplegia with pigmentary retinopathies varying from classical retinitis pigmentosa to a benign pigmentary disturb ance.4"6 Psychophysic and electrophysiologic studies have been infrequent.7 Botermans 3 suggested that full evaluation of retinal func tion is necessary to clarify the spectrum of
From Montefiore Hospital and Medical Center/ Albert Einstein College of Medicine, Bronx, New York. This study was supported in part by Na tional Institutes of Health grant EY 00063-4, and an unrestricted grant from Research to Prevent Blindness, Inc. Reprint requests to B. L. Beckerman, M.D., Montefiore Hospital and Medical Center, 111 E. 210th St., Bronx, NY 10467.
89
90
AMERICAN JOURNAL OF OPHTHALMOLOGY
JANUARY, 1976
Fig. 1 (Beckerman and Henkind). Fundus photos and fluorescein angiograms showing diffuse hypoand hyperpigmentation (left, right eye; right, left eye). The vascular pattern is normal and no areas of leakage developed.
tapetoretinal disorders that is expected in this syndrome.3 The retinopathy in our patient resembled rubella retinopathy in boÜL clinical appear ance and test results. No other stigmata of intrauterine rubella were present, however. The ERG responses were of uniformly re duced amplitude and normal implicit times. A patchy loss of photoreceptors with normal function in the remaining retinal mosaic may have accounted for this anomaly. The benign nature of the retinopathy suggests a damag
ing insult at some stage of retinal develop ment or a selective cellular degeneration of an unknown cause. Patients presenting with progressive ex ternal ophthalmoplegia may have varying visual prognoses. Adequate evaluation of ret inal function is, therefore, an important part of the diagnostic evaluation in the progres sive external ophthalmoplegia syndrome. SUMMARY
A 17-year-old boy had progressive exter-
VOL. 81, NO. 1
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA
91
Fig. 2 (Beckerman and Henkind). Electroretinographic response to scotopic SI blue. Patient response shows reduced a- and b-wave amplitude with normal implicit times. (Normal mean b-wave amplitude, 33S.4; S.D., 80.5; 174.3 to 496.4 = ±2 S.D.). Cali bration is 100 μν/cm and 20 msec/cm. nal ophthalmoplegia, normal visual acuity, and a pigmentary retinopathy. Neurologic evaluation showed an abnormal electroence phalogram with diffuse slow (theta) waves. Myasthenia gravis was excluded. Fluores cent angiography showed a normal vascular
pattern with diffuse hyper- and hypopigmentation. Results of retinal testing, includ ing color vision, visual fields, electroretinography, and dark adaptometry, were within normal limits except for a slightly subnormal electroretinogram with normal implicit times.
Fig. 3 (Beckerman and Henkind). Borderline normal dark adaptation curve (log illumination vs. time in minutes).
92
AMERICAN JOURNAL OF OPHTHALMOLOGY
Progressive external ophthalmoplegia may be associated with either progressive or nonprogressive pigmentary retinopathies, and adequate evaluation of retinal function in these cases must be obtained. REFERENCES
1. Walsh, F. B., and Hoyt, W. F.: Clinical Neuro-Ophthalmology, 3rd ed. Baltimore, Williams and Wilkins, 1969, pp. 1254-1264. 2. Drachman, D. A. : Progressive external oph thalmoplegia : a finding associated with neurodegenerative disorders. In Smith, J. L. (ed).: NeuroOphthalmology, vol. 4. St. Louis, C. V. Mosby, 1968, pp. 124-138. 3. Botermahs, C. H. G. : Primary pigmentary de
JANUARY, 1976
generation. In Vinken, P. S., and Bruyn, G. W. (ëds.) : Handbook of Clinical Neurology, vol. 13. Amsterdam, New Holland Publishing Co., 1972, pp. 309-314. 4. Kearns, T. P., and Sayre, G. P. : Retinitis pigmentosa, external ophthalmoplegia, and complete heart block. Arch. Ophthalmol. 60:280, 1958. 5. Kearns, T. P. : External ophthalmoplegia ; pigmentary degeneration of the retina and cardiomyopathy. A newly recognized syndrome. Trans. Am. Ophthalmol. Soc. 63:559, 1965. 6. Chamlin, M., and Billet, E. : Ophthalmoplegia and pigmentary degeneration of the retina. Arch. Ophthalmol. 43:217, 1950. 7. Thorson, C, and Bell, W. E. : Progressive dystrophic external ophthalmoplegia with abiotrophic fundus changes. Arch. Ophthalmol. 62 :833, 1959.
OPHTHALMIC MINIATURE
Hollowed or concave glasses obviate the need for greater proximity. As round or convex spectacles draw in the rays, so these turn them out till their increased divergence is equivalent to the superior force of the eye. Thus spectacles are a remedy for opposite defects. One sees ob scurely what is under his nose—another is blind to all that is not—and a glass gives the mole the range of the eagle, and suffers the eagle to con fine its vision like the mole. Spectacles Quart. Rev. Vol. 87, 1850
