Retrolental Membrane Associated with Bloch-Sulzberger Syndrome (Incontinentia Pigmenti)

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  • RETROLENTAL MEMBRANE ASSOCIATED WITH BLOCH-SULZBERGER SYNDROME (INCONTINENTLY PIGMENTI)

    SAMUEL T. JONES, M.D. Galveston, Texas

    The Bloch-Sulzberger syndrome, one of the types of incontinentia pigmenti,1 is an uncommon disorder of ectodermal and mesodermal tissues in which abnormalities of the skin, hair, nails, teeth, eyes and central nervous system have been reported. The most characteristic feature is pigmented spots of the skin which have a dendritic, linear or polyangular shape and are located on the trunk and extremities. Ocular abnormalities have been reported in 2 6 % of the cases,2 the most common finding being a retrolental membrane or mass suggestive of persistent hyperplastic primary vitreous. I n the case to be reported, treatment based on the clinical diagnosis of persistent hyperplastic primary vitreous led to the excision of the retrolental membrane and its pathologic study.

    CASE REPORT

    At birth the patient, a Negro girl, was noted to have pigmented lesions over the trunk and extremities and some vesicles or bullae containing clear yellow fluid located mostly on the hands and arms. The breasts were large and engorged. She weighed 3,200 gm (7 lbs 1 oz). Immediately after birth, she was placed in an incubator with oxygen administration at three liters/minute for 13 hours. Both parents were 20 years of age; they were not related. The mother's serologic test for syphilis was negative and her prenatal course was uncomplicated. There was no family history of skin or eye abnormalites. One sibling, a boy two years older than the patient, was normal.

    The patient was followed in the dermatology clinic for a diffuse bizarre pigmentation of the skin with some blisters occasionally, and was referred to the ophthalmology clinic at the age of five months because the mother noted something white in the left pupil.

    Examination of the right eye revealed no abnormalities. It was difficult to determine the pupillary reactions to light because of the dark irises and lack of co-operation. The left anterior chamber appeared shallower than the right, and

    From the Department of Ophthalmology, University of Texas Medical Branch. This work was supported in part by United States Public Health Service grant No. 1 T8 NB10040-01.

    Fig. 1 (Jones). The left cornea is slightly smaller than the right. The dense retrolental membrane is seen through the dilated left pupil.

    the left pupil was more vertically oval than the right. With the patient sedated and the pupils dilated, a dense white vascularized membrane, concave forward, was seen in the nasal four fifths of the retrolental space of the left eye (fig. 1). Prominent elongated ciliary processes appeared incorporated into the membrane. A small collection of blood was present in the retrolental space on the temporal side. The lens itself was essentially normal except for collections of clear spherical globules in the posterior subcapsular area. With the ophthalmoscope, it was possible to see only a red reflex temporally. The horizontal diameter of the right cornea was 11.25 mm, that of the left cornea 10.5 mm. The tension in the right eye was 9.0 scale units (Schi^tz) with the 7.5-gm weight; the left eye was very soft, registering more than 20 scale units with the 5.5-gm weight.

    Because of the small cornea, the shallow anterior chamber, and the appearance of the retrolental membrane, the diagnosis of persistent hyperplastic primary vitreous was made.

    When the child was 11 months of age, she was admitted to the hospital for surgical treatment of persistent hyperplastic primary vitreous. Preoper-ative physical examination revealed no abnormalities except the ocular lesion, pigmented lines on the skin (fig. 2) and a large reducible umbilical hernia. Laboratory examinations revealed the following: hemoglobin 10 gm; WBC 7,500; differential37% neutrophiles, 60% lymphocytes, 2% monocytes, 1% eosinophiles. Protein (1+) was detected in one urine specimen but was absent in subsequent specimens.

    Examination under general anesthesia revealed 330

  • VOL. 62, NO. 2 INCONTINENTIA PIGMENTI 331

    the horizontal diameter of the right cornea to be 11.5 mm, that of the left cornea 10.5 mm. The vertical corneal diameter was 11 mm in each eye. The tension in the right eye was 6.0 scale units with the 5.5-gm weight; that in the left eye 16 scale units with the 5.5-gm weight. On ophthal-moscopy, the fundus of the right eye appeared more darkly pigmented than normal; in the left eye only a red reflex could be seen in the periphery. Gonioscopy of the left eye revealed the anterior surface of the lens to bulge forward through the pupil. The filtration angle was open, a dark ciliary body band being clearly visible. There were numerous iris processes extending to Schwalbe's line. The blood vessels on the retro-lental membrane radiated from a point temporal to the center of the lens. There was a suggestion of a yellowish white material behind the retrolen-tal membrane. Thin whitish strands extended from the retrolental membrane to elongated ciliary processes around the entire circumference of the pupil.

    After this examination, a discission was performed on the left lens, followed one week later by a linear extraction. There were no postoperative complications; almost all the lens was removed by the operation or absorbed.

    Six months later a small opening was made in the pupillary membrane. This discission was not thought to be large enough to relax traction by the fibrous membrane on the ciliary processes. Therefore, excision of the membrane was recommended and performed at the age of two and one-half years.

    Examination prior to surgery revealed several dark, curving nonelevated lines on the skin of the chest and back. Laboratory studies revealed the following: hemoglobin 10.8 gm; WBC 7,300; 30% neutrophiles, 55% lymphocytes, 4% eosino-philes. A chest X-ray film revealed no abnormalities and a serologic test for syphilis was negative.

    At the time of surgery, the horizontal corneal diameter was 12 mm in each eye. The tension in both eyes was 6.5 scale units with the 5.5-gm weight. The membrane in the left pupil extended so far peripherally that it was not possible to see a red reflex. The operation consisted of a limbal

    Fig. 2 (Jones). Pigmented lesions on back and lower extremity.

    incision into the anterior chamber followed by excision of the pupillary membrane with Vannas scissors. As the membrane was removed, a straw-colored viscous material oozed from the eye. No formed vitreous was seen in the eye. The excised tissue was fixed in formalin for pathologic examination.

    Microscopic examination of sections of the specimen showed a small amount of fibrous tissue and folds of retinal tissue with marked degenerative changes (fig. 3).

    Following the operation, a dense membrane again developed in the pupil.

    DISCUSSION

    The Bloch-Sulzberger syndrome (derma-tose pigmentaire en eclaboussurestype I incontinentia pigmenti of Franceschetti and Jadassohn3) is characterized by splotches of pigmentation on the skin in early infancy, occasional eosinophilia, frequent dental anomalies (absence or malformation of the teeth) , occasional alopecia and nail deformities, frequent ocular abnormalities and cere-brospinal anomalies. The syndrome occurs almost exclusively in the female sex ; there is occasionally a family history of the condition. The most striking clinical feature is the presence of pigmented dendritic, linear or polyangular spots on the skin of the t runk and extremities. The term incontinentia pigmenti was first used by Bloch4 because he thought the condition was due to abnormalities of the pigmented cells of the epithelium which were "incontinent" of melanin, permitting it to drop into the corium and accumulate in the chromatophores instead of eliminating it upward normally. The pigmentation is frequently preceded by vesicular or bullous lesions which recur for weeks or months before they subside and the pigmented macules appear. The pigmented spots may remain for many years before they fade away leaving no sequelae or slightly atrophic pigmented spots.

    A number of ocular changes have been reported in this syndrome, including exudative chorioretinitis with neovascularization, optic atrophy, retrolental fibroplasia, metas-tatic ophthalmitis and persistent hyperplas-tic primary vitreous.2'5

  • 332 AMERICAN JOURNAL OF OPHTHALMOLOGY AUGUST, 1966

  • VOL. 62, NO. 2 INCONTINENTIA PIGMENTI 333

    Fig. 3 (Jones). Sections of retrolental membrane, showing fibrous tissue and degenerating retinal tissue. (Hematoxylin-eosin; A, X4; B, X40; C, X40.)

    \ WAV

    There are three reported cases of Bloch-Sulzberger syndrome in which the entire eye was studied histologically.6"8 In none of these cases had the eye been operated on prior to enucleation. In all three cases a retrolental membrane or mass was observed clinically. In the case of Scott and associates6

    pathologic examination revealed a completely detached, funnel-shaped, folded and thickened retina which was separated from the lens by a thick fibrovascular membrane; in the case of Kriimmel and Rausch7 there was a total detachment of folded and shrunken retina, almost all of which lay in the retrolental space; in the case of Cole and Cole8 there was a completely detached retina incorporated into a membrane which extended across the retrolental space.

    The clinical diagnosis in my patient was persistent hyperplastic primary vitreous because of the presence in only one eye of a small cornea, a shallow anterior chamber, elongated ciliary processes and a white or pinkish-white vascularized retrolental membrane. The treatment for this condition recommended by Reese9 was "elimination of the lens and making an opening" in the retrolental membrane. An attempt to make a pupillary opening in my patient led to the excision of a portion of the membrane. His-tologic study of the excised specimen revealed the presence of degenerated retinal tissue, as well as fibrous tissue. The retinal detachment could have been a result of the first three surgical procedures or could have been unrelated to the operations. The latter is considered more likely (1) because Jones10 reported only one retinal detachment after surgical treatment of 30 cases of persistent hyperplastic primary vitreous, and (2) because a complete detachment of the

    retina was present on pathologic examination in all three reported cases of Bloch-Sulzberger syndrome in which the eye was enucleated without prior surgery.

    SUMMARY AND CONCLUSIONS

    One of the more common ocular abnormalities in the Bloch-Sulzberger syndrome is a retrolental membrane or mass which suggests the clinical diagnosis of persistent hyperplastic primary vitreous. In the patient reported the lens was removed and the pupillary membrane was incised. Subsequently the pupillary membrane was excised and examined pathologically. It contained degenerated retinal tissue and fibrous tissue. In all three reported cases in which an eye was removed from a patient with Bloch-Sulzberger syndrome and examined histologically, a totally detached retina was present. A complete detachment of the retina ought to be suspected when a retrolental membrane is observed clinically in patients with this syndrome.

    University of Texas Medical Branch (77551)

    REFERENCES

    1. Andrews, G. C., and Domonkos, A .N.: Diseases of the Skin, Philadelphia, Saunders, 1963.

    2. Wollensak, J.: Characteristische Augenbefunde beim Syndroma Bloch-Sulzberger (Incontinentia pigmenti). K. Monatsbl Augenh. 134:692, 1959.

    3. Franceschetti, A., and Jadassohn, W.: A pro-pos de 1' "incontinentia pigmenti," delimitation de deux syndromes differents figurant sous le meme terme. Dermatologica, 108:1, 1954.

    4. Bloch, B.: Eigentiimliche, bisher nicht bes-chriebene Pigmentaffektion (Incontinentia pigmenti). Schw. Med. Wschr. 7:404, 1926.

    5. Lieb, W., and Guerry, D.: Fundus changes in incontinentia pigmenti (Bloch-Sulzberger syndrome). Am. J. Ophth. 45:265, 1958.

    6. Scott, J. G., Friedmann, A. I., Chitters, M., and Pepler, W. J.: Ocular changes in the Bloch-

  • 334 AMERICAN JOURNAL OF OPHTHALMOLOGY AUGUST, 1966

    Sulzberger syndrome (incbntinentia pigmenti.) pigmenti associated with changes in the posterior Brit. J. Ophth. 39:276, 1955. chamber of the eye. Am. J. Ophth. 47 :321, 1959.

    7. Kriimmel, H., and Rausch, L.: Anomalien 9. Reese, A. B.: Persistent hyperplastic prima-des Auges bei der sogenannten Incontinentia pig- ry vitreous. Am. J. Ophth. 40:317, 1955. menti. Ophthalmologica, 130:31, 1955. 10. Jones I. S.: The treatment of congenital

    8. Cole, J. G., and Cole, H. G.: Incontinentia cataracts by needling. Am. J. Ophth. 52:347, 1961.

    A REVIEW OF SPEED-READING THEORY AND TECHNIQUES FOR T H E OPHTHALMOLOGIST

    DAVID MILLER, M.D. Boston, Massachusetts

    Interest in the techniques of fast reading has grown apace with current emphasis on education. Although the teaching of reading is in the hands of educators and psychologists, many patients attribute slow reading to refractive errors or muscle imbalance and consult their ophthalmologist. This paper will attempt to review some fundamental information regarding speed reading.

    In order to quantitate reading efficiency, a person is first given a standardized reading passage. His comprehension is determined by his score on a test about the passage. His speed is determined by the time it takes to finish the selection. Speed is generally measured in words per minute. Another evaluation of reading efficiency involves analysis of the subject's eye movements. The ophthalmograph, which records eye movements photographically, and the electro-ocu-logram, which records the variation of the cornea-retinal potential, indicate: (a) number of fixations per line of print, (b) time taken to pause for each fixation and (c) number of regressive movements per line.

    These measures of reading skill have no absolute meaning but are useful when related to the level of difficulty of the test passage. For example, a good reader might take as much time on a technical report as a poor reader on a simple story.

    NORMAL DEVELOPMENT

    We inherit much of our basic reading patterns. Morgan1 and Jones2 compared the ophthalmographic records of sets of identi

    cal and fraternal twins and found that identical twins demonstrated a significant similarity in fixation pauses and frequency of fixation. The fraternal twins did not show this statistical relationship. As will be noted later, training may alter fixation pause and fixation frequency to a certain extent. Therefore, it is to be concluded that the limits to which these parameters can be altered are genetically determined.

    Along with his inherited characteristics, the child must attain a certain mental age before he can read. A study3 of first-grade reading failures showed that the number of failures decreased to the age of six and one-half and then leveled off. The study then went on to divide first graders so that half got reading instruction...

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