996 THOMAS S. EDWARDS AND BRUNO S. PRIESTLEY

3. Masuda, T.: A study of chorioretinitis centralis. Chuo-Ganka-Iho, 7:123-152 (Mar.) 1915. (Quoted by Mitsui and Sakanashi.'1

4. Mitsui, Y. and Sakanashi, R.: Central angiospastic retinopathy. Am. J. Ophth., 41:105-113 (Jan.) 1956.

5. Fusch, E. : Ein Fall von zentraler rezidivierender Netzhautentzündung. Centralbl. f. Augenli, 40 : 105, 1916.

6. Batten, R. D.: Macular disease with special reference to acute primary macular disease. Tr. Ophth. Soc. U. Kingdom, 41:411, 1921.

7. Guist : Ztschr. f. Augenh., 54:37, 1925. 8. Gissy: Ztschr. f. Augenh., 56:423, 1925. 9. Walsh, F. B., and Sloan, L.: Idiopathic flat detachment of the macula. Am. J. Ophth., 19:195, 1936. 10. Horniker, E.: Ueber eine Form von zentraler Retinitis auf angioneurolischer Grundlage. Arch. f.

Ophth., 123:286, 1920. 11. Gifford, S. R., and Marquardt, G.: Central angiospastic retinopathy. Arch. Ophth., 21:221, 1939. 12. Gifford, S R.: Evaluation of ocular angiospasm. Arch. Ophth., 31:453-460 (June) 1944. 13. Klien, B. A.: Macular lesions of vascular origin: Part IT. Functional vascular conditions leading to

damage of the macula lutea. Am. J. Ophth., 36:1-13 (Jan.) 1953. 14. Priestly B. S., and Forée, K. : Clinical significance of some entoptic phenomena. AMA Arch. Ophth.,

53:390-397 (Mar.) 1955. 15. Sauvages, F. L. B.: Nov. Act. Phys. Med. Caes. Leop. Carol. Nat. Curios; Amsterdam: 1763.

(Quoted by Adler, F. H. : The entopic visibility of the capillary circulation in the retina. Arch. Ophth., 1:91, 1929.)

16. Scheerer, R. : Die entoptische Sichbarkeit der Blutbewegung im Auge und ihre klinische Bedeutung. Klin. Monatsbl. Augenh., 73:67, 1924.

17. . : Ueber den Nachweis von Netzhautgefasstörungen auf entoptischem Wege. Ztschr. Augenh., 53:258, 1924.

18. . : Literarisches und Grundsatzliches zur Frage der Zirkulationsphänomenc in der Netzhaut. Klin. Monatsbl. Augenh., 74:688, 1925.

19. Marshall, C. R.: Entoptic phenomena associated with the retina. Brit. J. Ophth.; 19:177, 1935. 20. Hesse, F. R.: The distribution of the blood vessels in the retina. Arch. f. Anat. & Physiol., 5:219,

1880. 21. Horniker, E. : Su di una forma retinite centrale di origine vasoneurotica (retinite centrai capillaro-

spastica). An. Ottal. & clin, ocul., 55:55, 1927. 22. Sherman, M. E., and Priestley, B. S.: The Haidinger brush phenomenon: A new clinical use. Am.

J. Ophth., 54:807-812 (Nov.) 1962. 23. von Haidinger, W. : Ueber das direkte Erkennen des polarisierten Lichtes und der Lage der

Polarisations Ebene. Ann. Physik & Chem., 63:29-39, 1844. 24. Goldschmidt, M.: A new test for function of the macula lutea. AMA Arch. Ophth., 44:129-135,

1950. 25. Hallden, U.: An explanation of Haidinger brushes, AMA Arch. Ophth., 57:393-399, 1957.

H E R E D I T A R Y E P I T H E L I A L D Y S T R O P H Y O F T H E C O R N E A *

ABRAM PiNSKY,t M.D. AND EDWARD S. I R W I N , M.D. Rochester, New York

Hereditary epithelial dystrophy of the cornea was reported as a clinical entity by Meesmann and Wilke,1 who studied 34 cases in three families in Germany. Franceschetti

* From the Department of Surgery, Division of Ophthalmology, the University of Rochester, School of Medicine and Dentistry. This work was supported by funds granted by the Rochester Eye Bank and Research Society.

t It is with regret that THE JOURNAL has learned of the death of Dr. Pinsky on May 12, 1963.

and co-workers,2 in their extensive review of the heredofamilial degenerations of the cornea, discussed juvenile epithelial dys­trophy (Meesmann type) and stated that they believed that the previously reported cases of Rollett and Pameijer belonged in the same category. Burki3 reported 12 cases in a kindred of 42 individuals in Switzerland.

In the United States, Stocker and Holt4

■reported 20 cases in a group of people who

EPITHELIAL DYSTROPHY OF CORNEA 997

were direct descendants of Moravian settlers in North Carolina. Gifford,5 in 1932, de­scribed cases with a number of features simi­lar to those in the group under considera­tion. He referred to these cases, however, as a "mild form of epithelial dystrophy" and differentiated them from Fuchs' dystrophy and from superficial punctate keratitis. Ap­parently these were isolated cases, since there was no discussion of hereditary association in this paper.

The purpose of this report is to describe four additional cases of hereditary epithelial dystrophy in one family.

CLINICAL DESCRIPTION

The clinical appearance and behavior of the lesions were similar in all four cases,.so that a common description can be given. The only symptom produced by the disorder among these patients was a decrease in vis­ual acuity. In no case was there any history of ocular irritation or photophobia. The first case examined by us was that of a 10-year-old boy, who was referred following a school visual screening test. Subsequently, examination of his immediate family showed the disorder to be present in two other sib­lings (three of five children) and in the

i, ί i ά φ ώ ώ ό ϋ ό *

U Ai ί Τ ί ΐ Ι ί ό

Fig. 1 (Pinsky and Irwin). Hereditary epithelial dystrophy of the cornea.

lie. 4 7 9 il

Fig. 2 (Pinsky and Irwin). Pedigree of family.

mother. The father was unaffected. The corneas in these four cases (fig. 1)

showed no macroscopic defect. The globes were white. The lesions were limited to the epithelium. The corneas were otherwise quite normal. In direct illumination, the le­sions appeared gray, punctate and flat. In retro-illumination and in sclerotic scatter, the lesions appeared bleblike and vesicular. They varied in size but were all quite small. The vesicles were clear. They were quite numerous, closely spaced and tended to in­volve the corneas diffusely, although varia­tions in distribution did occur. Corneal sen­sation was intact in all cases. Fluorescein instillation resulted in partial staining of some of the lesions in two of the cases.

The remainder of the eye examination re­vealed no defect of any other structures. The youngest affected individual was seven years of age, the oldest 33. Visual acuity with best correction in these cases was 20/30 in each eye in two of the patients, 20/40 in each eye in one patient and the right eye 20/30, left eye 20/40 in the fourth patient.

The four patients described in this report are members of a kinship of 39 individuals most of whom were examined with the bio-microscope (fig. 2 ) . Numerous descendants of the grandmother's siblings were examined and all were found to be unaffected. Those individuals represented by shaded symbols in Figure 2 were unavailable for examina­tion. The deceased grandmother had been examined by a colleague6 and was known to be unaffected. A few ocular abnormalities unrelated to epithelial dystrophy were found

998 ABRAM PINSKY AND EDWARD S. IRWIN

among the unaffected relatives: one instance of nonspecific iritis, one of esotropia, one of central pulverulent cataract and one of su­perficial stromal corneal scarring apparently due to healed herpes simplex keratitis.

COMMENT

Most reports mention the occurrence of clinical symptoms at some stage of the dis­order in at least some cases. Recurrent at­tacks of ocular irritation, burning, watering and photophobia are described. Partial re­duction in acuity, similar to that noted in our cases, seems to be usual. Severe reduc­tion of vision is said not to occur. Diminu­tion of corneal sensitivity is frequently re­ported.

Meesmann and Wilke mentioned that cor­neal scars "typical of phlyctenular disease," consisting of small nodular yellow deposits, were present in some of their cases. Burki described the presence of fine striped or whorl-like opacities in the region of Bow­man's membrane, and these changes are also described by Stocker and Holt. We have not seen such changes in our cases.

Pathologic study was done by Meesmann and Wilkie and by Stocker and Holt. The former authors studied scrapings removed during treatment of a corneal scar. They found the stroma to be normal, Bowman's membrane thinned but uninterrupted, de­generation of epithelial cells, increase in the

number of epithelial cell layers and con­fluence and vacuolization of epithelial cells. They demonstrated glycogen storage in the epithelium by the use of Best's stain. Stocker and Holt's specimen was obtained as a result of keratoplasty done in one of their cases. They used a modified periodic acid-Schiff stain. They found an amorphous substance interposed between Bowman's membrane and the epithelium, in addition to the epithelial changes, and concluded that this substance is a product of the diseased epithelial cells. There has to date been no occasion to do a pathologic study on mate­rial from any of our cases.

Simple dominant transmission of this dis­order is noted in all the reports surveyed. Within the affected family herein reported, this pattern is apparently followed but the rest of the pedigree shows no other affected individual. These numbers are insufficient to allow a conclusion concerning mode of transmission in this family.

SUMMARY

Four cases of hereditary epithelial dys­trophy of the cornea occurring in one fam­ily are reported. The clinical features of the cases are described and brief comparison is made with previously reported cases of this relatively rare disorder.

260 Crittenden Boulevardi(20).

REFERENCES

1. Meesmann, A., and Wilke, F.: Klinische und anatomische Untersuchungen lieber eine bisher unbe­kannte dominante vererbte Epitheldystrophie der Hornhaut. Klin. Monatsbl. Augenh., 103:361-391, 1939.

2. Franceschetti, A., and Babel, J. The heredofamilial degenerations of the cornea: B. Pathological anatomy, pp. 245 Acta XVI 1951.

3. Burki, E. : Zur Kenntnis der erblichen Epitheldystrophie der Hornhaut. Ophthalmölogica, 111:134, 1946.

4. Stocker, F. W., and Holt, L. B.: Rare form of hereditary epithelial dystrophy. AMA Arch. Ophth., 53:536, 1955.

5. Gifford, S. R.: Mild form of epithelial dystrophy of cornea. Arch. Ophth., 7:18-30 (Jan.) 1932. 6. Kennedy, E. W. : Personal communication.