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Albinotic Characteristics in Congenital Nystagmus
VOL. 98, NO. 1
CORRESPONDENCE
and was being treated with vaginal sulfanilamide suppositories. Uncorrected visual acuity was R.E.: 20/200 and L.E.: 2 0 / 7 0 - . With R.E.: - 1 . 5 0 sph and L.E.: —1.25 sph, correct ed visual acuity was 20/20 in each eye. Results of the rest of the examination were normal. We referred her to her internist who reported that results of a complete physical examination were within normal limits and that all blood test results including a glucose tolerance test were also normal. The vaginal sup positories were discontinued. When she returned five days later uncorrected visu al acuity was R.E.: 20/15— and L.E.: 20/20+. There was no recurrence in the next five years. There have been many reports of myo pia caused by sulfas as well as other drugs. 1 Interestingly, Food and Drug Ad ministration studies show there is no evi dence that sulfanilamides are more effica cious than bland creams in treating the most common forms of vaginitis. 2 REFERENCES 1. Fraunfelder, F. T.: Drug-induced Ocular Side Effects and Drug Interactions, 2nd ed. Philadelphia, Lea & Febiger, 1982, pp. 461-462. 2. Sulfa Vaginal Creams. FDA Drug Bulletin, Feb. 1980, p. 6.
CORRESPONDENCE Correspondence concerning recent articles or other material published in THE JOURNAL should be submitted within six weeks of publi cation. This correspondence must be typed and prepared in the same way as Letters to THE JOURNAL.
Every effort will be made to resolve contro versies between the correspondents and the authors of the article before formal publica tion.
121
Albinotic Characteristics in Congenital Nystagmus EDITOR:
I read with interest the article, "Albi notic characteristics in congenital nys tagmus" (Am. J. Ophthalmol. 97:320, March 1984), by J. W. Simon, G. L. Kandel, G. B. Krohel, and P. T. Nelsen, but fail to understand their con clusion that their findings "suggested that many patients with apparently iso lated congenital nystagmus may have subclinical albinism or a form of albinoidism." I think the authors have not gone far enough in that their conclusion should have been that the findings of iris transillumination defects and other fundus abnormalities in association with congenital nystagmus should have sug gested the diagnosis of ocular albinism in their patients. It has always been my understanding that a patient with pendular congenital nystagmus and iris transillumination de fects should be considered to have ocu lar albinism. It is important to realize that ocular albinism can be a separate entity from oculocutaneous albinism and that there are several forms of ocular albinism. 1 ' 2 In particular, ocular albinism can occur without cutaneous or hair in volvement, although sometimes the skin and hair may be light in color early in life and then darken with age. Iris transillumination defects may occur in conditions other than albinism, including pigmentary glaucoma, pseudoexfoliation, chronic glaucoma, uveitis, and diabetes mellitus. 3 However, when transillumination of the iris and nystag mus are found in the same patient, I think the diagnosis of ocular albinism should be strongly suspected. The transillumination defects may be subtle and it is important to perform transillu mination with the proper technique, 4 that is, in a dark room with the illumi-
122
AMERICAN JOURNAL OF OPHTHALMOLOGY
nation of the slit lamp narrowed to a small dot and shining directly into an undilated pupil with the axis of illumi nation coinciding with the axis of view ing to obtain a red reflex. Detection of macromelanosomes by skin biopsy is an important test which can confirm the diagnosis of X-linked ocular albinism in both affected individuals and carriers even when the iris transillumination de fects and fundus defects may not be marked. 5 K. G. ROMANCHUK,
Saskatoon,
M.D.
Canada
REFERENCES 1. O'Donnell, F. E., Jr., and Green, W. R.: The eye in albinism. In Duane, T. D., and Jaeger, E. A. (eds.): Clinical Ophthalmology. Hagerstown, Harper and Row, 1983, vol. 4, ch. 38. 2. François, J.: Albinism. Ophthalmologica 178:19, 1979. 3. Donaldson, D. D.: Transillumination of the iris. Trans. Am. Ophthalmol. Soc. 72:89, 1974. 4. Abrams, J. D.: Transillumination of the iris during routine slit lamp examination. Br. J. Ophthal mol. 48:42, 1964. 5. Cortin, P., Tremblay, M., and Lemagne, J. M.: X-linked ocular albinism. Relative value of skin biopsy, iris transillumination and fundoscopy in identifying affected males and carriers. Can. J. Oph thalmol. 16:121, 1981.
Reply EDITOR:
Dr. Romanchuk suggests that some of the patients in our series may have ocu lar albinism. We certainly agree. As we noted, however, this diagnosis can be difficult to make clinically. Other au thors have shared this dilemma. What exactly defines the entity of ocular albi nism? 1 How does one distinguish, for exam ple, an ocular albino with mild skin and hair involvement from an incomplete (tyrosinase-positive) oculocutaneous al bino? Even the results of a skin biopsy may be inconclusive. Abnormal large melanosomes are a characteristic finding in one of the two forms of X-linked ocu
JULY, 1984
lar albinism (Nettleship-Falls type). 2 This finding is absent in the other form of X-linked ocular albinism (ForsiusEricksson syndrome) and in autosomal recessive ocular albinism. 3 This last en tity is particularly difficult to separate from oculocutaneous albinism in that the heredity pattern is the same. At the other end of the spectrum, how does one distinguish an ocular albi no without skin and hair manifestations from a patient with isolated congenital nystagmus? We believe that a specially designed visual-evoked potential proce dure may be helpful in this regard. 4 ' 5 The clinical findings of iris transillumi nation, choroidal depigmentation, and blunting of the macular reflex may be found in varying combinations and in varying degrees in patients with con genital nystagmus. These findings are summarized in Table 2 of our article. Our principal conclusion is that the clinical findings associated with albinism (both ocular and oculocutaneous) are more common in patients with nystag mus than in matched controls. Some of our patients probably do have ocular al binism. In the absence of clear clinical criteria and without benefit of histologie evidence, we do not feel justified in designating which patients these are. J O H N W.
SIMON,
M.D.
GlLLRAY K A N D E L , P H . D .
GREGORY B. K R O H E L , PHILIP NELSEN,
M.D. M.D.
Albany, New York REFERENCES 1. O'Donnell, F. E., King, R. A., Green, W. R., and Witkop, C. J.: Autosomal recessively inherited ocular albinism. Arch. Ophthalmol. 96:1621, 1978. 2. Garner, A., and Jay, B. S.: Macromelanosomes in X-linked ocular albinism. Histopathology 4:243, 1980. 3. Witkop, C. J., Quevedo, W. C , and Fitzpatrick, T. B. : Albinism and other disorders of pigment metabolism. In Stanbury, J. B., Wyngarden, J. B., Frederickson, D. S., Goldstein, J. L., and Brown, M. S. (eds.): The Metabolic Basis of Inherited Dis-
CORRESPONDENCE
and was being treated with vaginal sulfanilamide suppositories. Uncorrected visual acuity was R.E.: 20/200 and L.E.: 2 0 / 7 0 - . With R.E.: - 1 . 5 0 sph and L.E.: —1.25 sph, correct ed visual acuity was 20/20 in each eye. Results of the rest of the examination were normal. We referred her to her internist who reported that results of a complete physical examination were within normal limits and that all blood test results including a glucose tolerance test were also normal. The vaginal sup positories were discontinued. When she returned five days later uncorrected visu al acuity was R.E.: 20/15— and L.E.: 20/20+. There was no recurrence in the next five years. There have been many reports of myo pia caused by sulfas as well as other drugs. 1 Interestingly, Food and Drug Ad ministration studies show there is no evi dence that sulfanilamides are more effica cious than bland creams in treating the most common forms of vaginitis. 2 REFERENCES 1. Fraunfelder, F. T.: Drug-induced Ocular Side Effects and Drug Interactions, 2nd ed. Philadelphia, Lea & Febiger, 1982, pp. 461-462. 2. Sulfa Vaginal Creams. FDA Drug Bulletin, Feb. 1980, p. 6.
CORRESPONDENCE Correspondence concerning recent articles or other material published in THE JOURNAL should be submitted within six weeks of publi cation. This correspondence must be typed and prepared in the same way as Letters to THE JOURNAL.
Every effort will be made to resolve contro versies between the correspondents and the authors of the article before formal publica tion.
121
Albinotic Characteristics in Congenital Nystagmus EDITOR:
I read with interest the article, "Albi notic characteristics in congenital nys tagmus" (Am. J. Ophthalmol. 97:320, March 1984), by J. W. Simon, G. L. Kandel, G. B. Krohel, and P. T. Nelsen, but fail to understand their con clusion that their findings "suggested that many patients with apparently iso lated congenital nystagmus may have subclinical albinism or a form of albinoidism." I think the authors have not gone far enough in that their conclusion should have been that the findings of iris transillumination defects and other fundus abnormalities in association with congenital nystagmus should have sug gested the diagnosis of ocular albinism in their patients. It has always been my understanding that a patient with pendular congenital nystagmus and iris transillumination de fects should be considered to have ocu lar albinism. It is important to realize that ocular albinism can be a separate entity from oculocutaneous albinism and that there are several forms of ocular albinism. 1 ' 2 In particular, ocular albinism can occur without cutaneous or hair in volvement, although sometimes the skin and hair may be light in color early in life and then darken with age. Iris transillumination defects may occur in conditions other than albinism, including pigmentary glaucoma, pseudoexfoliation, chronic glaucoma, uveitis, and diabetes mellitus. 3 However, when transillumination of the iris and nystag mus are found in the same patient, I think the diagnosis of ocular albinism should be strongly suspected. The transillumination defects may be subtle and it is important to perform transillu mination with the proper technique, 4 that is, in a dark room with the illumi-
122
AMERICAN JOURNAL OF OPHTHALMOLOGY
nation of the slit lamp narrowed to a small dot and shining directly into an undilated pupil with the axis of illumi nation coinciding with the axis of view ing to obtain a red reflex. Detection of macromelanosomes by skin biopsy is an important test which can confirm the diagnosis of X-linked ocular albinism in both affected individuals and carriers even when the iris transillumination de fects and fundus defects may not be marked. 5 K. G. ROMANCHUK,
Saskatoon,
M.D.
Canada
REFERENCES 1. O'Donnell, F. E., Jr., and Green, W. R.: The eye in albinism. In Duane, T. D., and Jaeger, E. A. (eds.): Clinical Ophthalmology. Hagerstown, Harper and Row, 1983, vol. 4, ch. 38. 2. François, J.: Albinism. Ophthalmologica 178:19, 1979. 3. Donaldson, D. D.: Transillumination of the iris. Trans. Am. Ophthalmol. Soc. 72:89, 1974. 4. Abrams, J. D.: Transillumination of the iris during routine slit lamp examination. Br. J. Ophthal mol. 48:42, 1964. 5. Cortin, P., Tremblay, M., and Lemagne, J. M.: X-linked ocular albinism. Relative value of skin biopsy, iris transillumination and fundoscopy in identifying affected males and carriers. Can. J. Oph thalmol. 16:121, 1981.
Reply EDITOR:
Dr. Romanchuk suggests that some of the patients in our series may have ocu lar albinism. We certainly agree. As we noted, however, this diagnosis can be difficult to make clinically. Other au thors have shared this dilemma. What exactly defines the entity of ocular albi nism? 1 How does one distinguish, for exam ple, an ocular albino with mild skin and hair involvement from an incomplete (tyrosinase-positive) oculocutaneous al bino? Even the results of a skin biopsy may be inconclusive. Abnormal large melanosomes are a characteristic finding in one of the two forms of X-linked ocu
JULY, 1984
lar albinism (Nettleship-Falls type). 2 This finding is absent in the other form of X-linked ocular albinism (ForsiusEricksson syndrome) and in autosomal recessive ocular albinism. 3 This last en tity is particularly difficult to separate from oculocutaneous albinism in that the heredity pattern is the same. At the other end of the spectrum, how does one distinguish an ocular albi no without skin and hair manifestations from a patient with isolated congenital nystagmus? We believe that a specially designed visual-evoked potential proce dure may be helpful in this regard. 4 ' 5 The clinical findings of iris transillumi nation, choroidal depigmentation, and blunting of the macular reflex may be found in varying combinations and in varying degrees in patients with con genital nystagmus. These findings are summarized in Table 2 of our article. Our principal conclusion is that the clinical findings associated with albinism (both ocular and oculocutaneous) are more common in patients with nystag mus than in matched controls. Some of our patients probably do have ocular al binism. In the absence of clear clinical criteria and without benefit of histologie evidence, we do not feel justified in designating which patients these are. J O H N W.
SIMON,
M.D.
GlLLRAY K A N D E L , P H . D .
GREGORY B. K R O H E L , PHILIP NELSEN,
M.D. M.D.
Albany, New York REFERENCES 1. O'Donnell, F. E., King, R. A., Green, W. R., and Witkop, C. J.: Autosomal recessively inherited ocular albinism. Arch. Ophthalmol. 96:1621, 1978. 2. Garner, A., and Jay, B. S.: Macromelanosomes in X-linked ocular albinism. Histopathology 4:243, 1980. 3. Witkop, C. J., Quevedo, W. C , and Fitzpatrick, T. B. : Albinism and other disorders of pigment metabolism. In Stanbury, J. B., Wyngarden, J. B., Frederickson, D. S., Goldstein, J. L., and Brown, M. S. (eds.): The Metabolic Basis of Inherited Dis-