NOTES, CASES, INSTRUMENTS 1263

Hall, H. C. : La dégénérescence hepatolenticulaire, Paris, Masson & Cie, 1921. Kayser, B.: Ueber einen Fall von angeborener grünlicher Verfärbung der Kornea. Klin. Monatsbl.

Augenh., 40:22. 1902. Rohrschneider, W. : Unsuchung über den in der Hornhaut des Auges bei der hepatolentikularen

Degeneration abgelagerten Farbstoff. Arch. f. Augenh., 108:391, 1934. Theiler, K. : The Kayser-Fleischer ring. Arch. f. Augenh., 162:66, 1960. Uzman, L., and Jakus, M.: The Kayser-Fleischer ring: A histochemical and electron microscopic

study. Neurology, 7:341, 1957.

B I L A T E R A L M I C R O P H T H A L M O S

REPORT OF A F A M I L Y W I T H UNILATERAL

MANIFESTATIONS

FREDERICK GILLESPIE , M.D.

AND

B E N I T O COVELLI, M.D. Birmingham, Alabama

This family, with microphthalmos and cataracts, consisted of the affected mother and her two daughters similarly affected.

CASE REPORTS

GENERATION III, Case 10 (probandus, fig. 1) Mrs. W. O., a 42-year old white woman, gave a

history of having had small eyes all her life, as well as cataracts which had been removed from both eyes in childhood. She denied having had any serious ill­nesses. A general physical examination was nega­tive.

Ophthalmic examination revealed small eyes, bi­laterally, with the right eye being smaller than the left. There was a bilateral pendular searching nys­tagmus. Both eyes were surgically aphakic, with round regular pupils. Small amounts of white lens capsule remained near the border of each pupil. There was a constant right esotropia and a slight ptosis of both eyelids. The rotations of both globes

Fig. 1 (Gillespie and Covelli). Generation III, Case 10. This patient exhibits bilateral microphthal­mos. The right cornea measured 9.0 mm. in diameter, while the left cornea measured 10.5 mm. Both eyes have had operations for congenital cataracts.

were full. The irises reacted to light well. The cor-neal diameters measured 9.0 mm. in the right eye and 10.5 mm. in the left eye in the horizontal meridi­ans.

The visual acuity with aphakic correction was 20/200, R.E., and 20/100, L.E. The intraocular pres­sure was 20 mm. Hg (Schijzftz), O.U.

Ophthalmoscopy revealed normal discs, normal fundi and clear media bilaterally. The Ishihara test was normal.

The distance between the lateral canthi was 85 mm., between the medial canthi, 33 mm., between the puncti was 41 mm.

This patient was obese with a round face and showed some frontal baldness. Her hands and feet were of a normal size and appearance.

GENERATION III, Case 9 Mr. W. O. (husband of the probandus) was a

50-year-old-white man who stated that he had never had any eye disease in his life and denied any fam­ily history of eye disease. He was wearing glasses for presbyopia. A general physical examination was unremarkable.

Ophthalmic examination revealed normally reac­tive pupils and normal-sized globes. The rotations of both globes were normal. No deviations were noted. The corneal diameters measured 11.5 mm. in the horizontal meridians.

The visual acuity was 20/20, O.U., with correc­tion. The intraocular pressure was 17.3 mm. Hg, O.U. (Schätz). The Ishihara test was normal.

Ophthalmoscopy showed bilaterally normal discs and fundi.

GENERATION IV, Case 1 (fig. 2) Miss C. O., a five-year-old white girl, daughter

of the probandus, gave a history of having had small eyes and cataracts since birth after a normal period of gestation and a breech delivery. She had already had a cataract extraction in the left eye one year prior to this examination. She had had no other serious illnesses.

General physical examination was negative and the child was thought to be of normal intelligence.

Ophthalmic examination revealed small tni-crophthalmic eyes, the right eye being smaller than the left. Both eyes had a searching pendular nystag­mus. There was a constant esotropia of the right eye, with a slight hypertropia. There was surgical aphakia of the left eye and a basal iridectomy. The right eye contained a white cataractous lens and a small pupil which reacted normally to light. The

1264 NOTES, CASES,

Fig. 2 (Gillespie and Covelli). Generation IV, Case 1. This child has bilateral microphthalmos, with the right cornea measuring 7.0 mm. in diame­ter, and the left measuring 10.5 mm. A congenital cataract is still present in the right eye. The cataract of the left eye has been removed.

corneal diameters in the horizontal meridians meas­ured seven mm. in the right eye and 10.5 mm. in the left eye. There was a slight ptosis bilaterally.

The uncorrected visual acuity of the right eye was counting fingers at 40 cm., of the left eye with an aphakic correction, counting fingers at four m. Tactile tensions were normal in both eyes.

Ophthalmoscopy of the left eye showed a clear media with a normal disc and fundus. The Ishihara test was normal.

The distance between the medial canthi was 27 mm., between the lateral canthi 78 mm., and between the puncti 35 mm. The teeth were normal but a high-arched palate was present. No other abnormalities were noted.

GENERATION IV, Case 2 (fig. 3) Miss A. O., the eight-year-old white daughter of

the probandus, was of normal intelligence. She had a history of having been born with small eyes and cataracts. She had also had a "heart murmur" since birth. This child had had no serious illnesses except for repeated attacks of bronchitis. She had had bi­lateral cataract extractions. General physical exami­nation was normal.

Ophthalmic examination revealed small eyes and searching pendular nystagmus. The right eye was smaller than the left eye. There was a slight bi­lateral ptosis. The pupil of the right eye was irregu­lar. There were several posterior synechias and a semi-opacified secondary membrane resulting from the cataract extractions. The pupil of the left eye had a coloboma at the 6-o'clock position, apparently sur­gical, and the eye was aphakic. Some whitish rem­nants of the lens capsule remained. The visual axis was clear. The eyes were straight, there were no deviations and the ocular rotations were full. The corneal diameters in the horizontal meridians meas­ured 6.5 mm., R.E. ; 7.0 mm., L.E.

Visual acuity was counting fingers at 10 cm., R.E., with an aphakic correction and counting fin­gers at one m., L.E., with aphakic correction. Tac­tile tensions were normal in both eyes. The Ishihara test was normal. Ophthalmoscopy revealed normal discs and normal fundi.

The distance between the lateral canthi was 77

INSTRUMENTS

Fig. 3 (Gillespie and Covelli). Generation IV, Case 2. This patient has bilateral microphthalmos. Corneal diameters are 6.5 mm. in the right eye and 7.0 mm. in the left. This patient has had bilateral cataract extractions. Note the irregular implanta­tion of teeth.

mm., between the medial canthi 33 mm. and be­tween the puncti 41 mm. The teeth were irregular and the roof of the palate was arched and high. No other abnormality was noted.

DISCUSSION

In this pedigree (fig. 4) of bilateral mi­crophthalmos with congenital cataracts in a

Fig. 4 (Gillespie and Covelli). Pedigree of microphthalmos with cataracts.

NOTES, CASES, INSTRUMENTS 1265

mother and two daughters, there was a his­tory of consanguinity (first cousins) in the grandparents of the probandus. The mi­crophthalmos was unique in that the right eye in all three patients was smaller than the left eye, representing monocular hereditary transmission of the size of the eye. All these patients had pendular nystagmus.

Many authors classify microphthalmos into three groups: (1) pure microphthalmos (2)colobomatous microphthalmos and (3) complicated microphthalmos. Our family manifests the complicated type, since all the affected patients had cataracts. Many other general malformations have been de­scribed with microphthalmos, among them

CENTRAL SEROUS RETINOPATHY IN TWINS

GEORGE J. WYMAN, M.D. Peoria, Illinois

Central angiospastic retinopathy has been described by von Graefe in 1866 and by many other observers under a variety of names. The etiology remains obscure. Toxic factors as well as vasospasms are among the most popular causes. Recently, I had an ex­perience which I believe is unique and worth reporting.

CASE REPORT

On May 21, 1960, a physician, aged 40 years, consulted me because he was seeing, as he described it, a "circle around lights" with the left eye. Visual acuity was 20/20 in each eye but fundus examina­tion revealed an edematous macula on the left. He was placed on steroids by mouth and nicotinic acid. His symptoms gradually disappeared over a three-week period.

the irregular implantation of the teeth seen Generation IV, Case 2.

All modes of inheritance have been de­scribed in complicated microphthalmos, in­cluding the sex-linked recessive (Sj^gren and Larsson). From our pedigree we were unable to establish the mode of inheritance definitely, since only three females were affected in two generations. However, the history of consanguinity of the maternal grandparents suggests an autosomal reces­sive mode of inheritance, as does the fact that the probandus had a sister affected with microphthalmos.

Department of Ophthalmology University Hospital.

On June 25, 1960, his identical twin, a drug salesman came in with a history of distortion and blurry vision in the right eye for approximately one month. When seen, the vision in the right eye was 20/70 ; left eye 20/20. The right macula showed a definite edema with some flecks of exudate. He received the same therapy as his twin, but the edema persisted for several months because he stopped treatment on his own. On November 5, 1960, visual acuity was 20/20 in the right eye, the fundus looked normal and symptoms had disap­peared.

The mechanism that produces a central serous retinopathy remains unknown. Here are reported two identical twins who at the age of 40 years developed similar conditions one in the right eye, the other the left eye, and both within a week or two of the other. Interestingly enough the second brother did not know his twin had a similar difficulty until the father remarked about it.

1200 Hamilton Boulevard.

REFERENCES

Ash, W. M.: Hereditary microphthalmia. Brit. M. J., 1:558, 1922. Bruns, H. : Microphthalmus with cataracts. Am. J. Ophth., 16:68, 1899. Cuendet, J. F.: La microphtalmie compliquée. Ophthalmologica, 141:380-385, 1961 Franceschetti, A., and Klein, D.: Les affections génétiques en'ophthalmologie. Encyclopédie Medico-

Chirurgical, Paris, 1955. François, J. : L'Heredite en Ophthalmologie. Paris, Masson et Cie, 1958. Sj^gren, T., and Larsson, T.: Microphthalmus with oligophrenia. Acta. Psych. & Neurol. Suppl. 56,

1949. Woolff, T.: A microphthalmic family. Proc. Roy. Soc. Med., 23:623, 1929-1930.