H Y P E R P L A S T I C P E R S I S T E N T P U P I L L A R Y MEMBRANE S. MERIN, M.D.,
J. S. CRAWFORD, M.D.,
AND J. CARDARELLI,
Toronto, Ontario, Canada
A thick, persistent pupillary membrane covering the whole or most of the pupil is un common as a congenital anomaly. Most cases are sporadic. One author reports a pair of twins who were both affected.1 This anomaly was transmitted by the autosomal dominant mode in three families.2"4 In all of these the anomaly was associated with other ocular ab normalities such as cataract,2"4 microcornea,3 megalocornea,4 nystagmus, either in the same individual or members of his family. We describe a fourth family whose mem bers have the same congenital anomaly (Fig. 1), but unassociated with any other ocular abnormality, except in one instance where the proband also had high myopia.
right eye at the 12 o'clock position. Immediately the membrane shrank, leaving a wide open pupil (Fig. 5 ) . Visual acuity was not improved by the operation. A postoperative iritis caused synechiae between the membrane and the lens. The proband's three-year-old brother had similar pupillary membranes in both eyes. The visual acuity could not be measured, but no other ocular abnor malities were seen. T h e mother, too, had similar pupillary mem branes. H e r visual acuity was 20/80 in the right eye, 20/30 in the left eye. All other members of the family examined including a maternal grandparent of the proband were normal. DISCUSSION
CASE REPORT The proband, a seven-year-old girl, was sent to our Eye Clinic by a school nurse because of poor vision in both eyes. The examination revealed se vere myopia. H e r corrected vision (—8.00 sph. in each eye) was 20/30 in the right eye and 20/60 in the left eye. There was an intermittent exotropia of 10 degrees. The pupils of both eyes were covered by a thick, raised, and slightly pigmented membrane (Fig. 2 ) . The membrane consisted of a central area, about 4 mm in diameter and multiple periph eral strands, connecting this area to the collarette (Figs. 3 and 4 ) . The lens itself appeared normal. The fundus viewed with the strong light of the in direct ophthalmoscope was normal.
The four affected members of the family suffered from a condition called sometimes persistent pupillary membrane, or hyperplasia of the anterior layer of the iris stroma,5 or hyperplasia of the iris.6 The pupillary membrane, which normally exists during the third to the sixth month of fetal life is much thinner than that seen in this condition. Since there is no assurance that the condition is hyperplasia of the whole anterior layer of the iris, we suggest the term hyperplastic persistent pupillary membrane to distinguish it from "ordinary" persistent membrane which, though common, rarely has a familial inheritance.7'8 The thickness of the membranes and their
DESCRIPTION OF FAMILY MEMBERS
The proband's eldest sister had similar mem branes covering the pupils of both eyes. Her best corrected vision was 20/80 in the right eye (correc tion: +1.75 sph.C+4.00 cyl. ax. 90°) and 20/30 in the left eye (correction: -j-1.00 sp.C+2.00 cyl. ax. 90°). She had an alternating exotropia of —10 de grees with a left hypertropia of two degrees. The lens and fundus were normal. At the age of eight years a sector iridectomy was performed on the From the Department of Ophthalmology, The Hospital for Sick Children, Toronto. Dr. Merin is on leave from the Hadassah University Hospital, Jerusalem, Israel. Reprint requests to Department of Ophthalmology, The Hospital for Sick Children, 555 University Avenue, Toronto 101, Ontario, Canada. 717
Fig. 1 (Merin, Crawford, and Cardarelli). Pedi gree of family. Shaded circles and shaded square indicate members suffering from hyperplastic per sistent pupillary membrane. Arrow indicates proband.
AMERICAN JOURNAL OF OPHTHALMOLOGY
unaided. Postoperative corrected visual acu ity was 20/30 and 20/60, similar to that of our patients. Probably the condition should not be treated surgically except in very young children, before amblyopia develops. The pedigree in our family points to an autosomal dominant mode of transmission of this anomaly, starting as a new mutation in the mother. Contrary to the other reported
Fig. 2 (Mcrin, Crawford, and Cardarelli). Right eye of proband showing thick membrane covering almost the whole undilated pupil. The left eye was similar.
Fig. 4 (Merin, Crawford, and Cardarelli). Right eye of proband. Note the attachment of membrane to collarette.
Fig. 3 (Merin, Crawford, and Cardarelli). Right eye of proband under maximum mydriasis. opacity were striking, though visual acuity was remarkably good, ranging from 20/30 in the best eye to 20/80 in the worst. O u r one attempt to improve visual acuity by iridectomy failed. T h e results of a similar operation reported by Levy 9 are difficult to compare since preoperative visual acuity was
Fig. S (Merin, Crawford, and Cardarelli). Right eye of proband's eldest sister, showing optic iridec tomy and shrunken membrane. Operation did not improve visual acuity.
VOL. 72, NO. 4 HYPERPLASTIC PERSISTENT PUPILLARY MEMBRANE families,2"4 the anomaly in our family is iso lated and not connected with corneal or len ticular abnormalities. SUMMARY
A family is described with four members suffering from a condition termed as hyperplastic persistent pupillary membrane. This is the fourth description of a family with this condition. In all four the heredity was of the autosomal dominant mode. This is the first family reported without associated cor neal or lenticular lesions. REFERENCES
1. Wiegmann, E.: Membrana pupillaris persistens bei einem Zwillingspaar. Klin. Mbl. Augenheilk. 47: 592, 1909. 2. Pagenstecher, A.: Irismissbildung in drei generationen. (Teilweise verdoppelung des mesoder-
malen teiles der iris.) Klin. Mbl. Augenheilk. 74: 128, 1925. 3. Waardenburg, P J . : Gross remnants of the pu pillary membrane: Anterior polar cataract and microcornea in a mother and her children. Ophthalmologica 118:828, 1949. 4. Cassady, J. R., and Light, A.: Familial persis tent pupillary membranes. Arch. Ophth. 58:438, 1957. 5. Duke-Elder, S.: System of Ophthalmology, vol. 3. London, Henry Kimpton, 1964, part 2, p. 587. 6. Waardenburg, P. J., Franceschetti, A., and Klein, D.: Genetics and Ophthalmology. Assen, Netherlands, Royal Van Gorcum, 1961, p. 666. 7. Berliner, M. L.: Biomicroscopy of the Eye, vol. 2. Slit Lamp Microscopy of the Living Eye. New York, Hoeber, 1949, p. 779. 8. Lumbroso, B. D., and Scullica, L.: On a fa milial case of persistence of the pupillary mem brane. Acta Genet. Med. (Roma) 11:390, 1962. 9. Levy, W. J.: Congenital iris lesion. Brit. J. Ophth. 41:120, 1957. 10. Wiegmann, E.: Zur operation der persistierenden pupillarmembran. Klin. Mbl. Augenheilk. 57: 508, 1916.