Helen Mintz Hittner

Retrolental Fibroplasia: Efficacy of Vitamin E in a Double-Blind Clinical Study of Preterm Infants

We performed a double-blind study in 101 preterm infants who weighed less than or equal to 1500 g at birth, who had respiratory distress, and who survived for at least four weeks, to evaluate the efficacy of oral vitamin E in preventing the development of retrolental fibroplasia. Weekly indirect ophthalmologic examinations begun when the infants were three weeks old revealed a significant decrease in the incidence of retrolental fibroplasia greater than or equal to Grade III (P less than 0.03) and greater than or equal to Grade II (P less than 0.05) (McCormick classification) in the 50 infants given 100 mg of vitamin E per kilogram of body weight per day as compared with 51 given 5 mg per kilogram per day (controls). When multivariate analysis was applied to the controls, five risk factors were identified: gestational age, level and duration of administration oxygen, intraventricular hemorrhage, sepsis, and birth weight. When multivariate analysis was applied to both control and treatment groups, the severity of retrolental fibroplasia was found to be significantly reduced in infants given 100 mg of vitamin E (P = 0.012).

Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation--a syndrome.

A syndrome consisting of colobomatous microphthalmia, heart disease, abnormalities of the external ear with associated hearing loss, and mental retardation is described. Nine children and one adult were evaluated. There is not race or sex predilection. The syndrome can be heritable, as shown by a mother and daughter who were among the patients. In addition to the four major components enumerated, multiple other anomalies may be associated. In some cases, the syndrome may occur incompletely. Whenever two or more of the four components are recognized, the other systems usually affected should be investigated.

The aniridia-Wilms tumor association: The critical role of chromosome band 11p13

Abstract The role of del (11)(p13) as a cause of aniridia, with and without Wilms tumor, is strengthened by demonstration of this chromosome aberration in 3 patients: monozygous twin girls, both of whom have aniridia and mental retardation and one of whom has a Wilms tumor; and an unrelated boy with aniridia and ambiguous genitalia. The break points defining the interstitial deletion for the twins are 11p13 and 11p15.1, while for the boy they are 11p1302 and 11p14.1. These patients and their karyotypes substantiate the critical importance of chromosome band 11p13 (or its hemizygous representation) in the development of aniridia and an associated Wilms tumor diathesis, as had been suggested previously (Riccardi VM, Sujansky E, Smith AC, Francke U, (1978): Pediatrics 61, 604-610).

Partial triplication and deletion of 13q: study of a family presenting with bilateral retinoblastomas

This report compares the pathogenetic influences of selective deletion and triplication of chromosome 13 derived from a familial 12; 13 insertional translocation. In the proband a heritable chromosomal basis for his bilateral retinoblastomas is established [46, XY, del (13) (pter → q12.5::q22.→qter)mat], and in his sister the relatively modest effects of triplication of the mid–portions of 13q are demonstrated [46, XX, ins(12;13) (12pter→–12pll.2::13q22.1→13q12.5::12pll.2→12qter)mat]. Qualitative and quantitative gene marker studies and chromosomal staining techniques to differentiate timing of DNA replication failed to indicate functional gene changes about the breakpoints.

Retinopathy of prematurity: clinical implications of retinal development.

a disorder that is generally restricted to infants weighing less than 1001 g at birth. The size of the surviving population of infants with ROP dwarfs all previous predictions of absolute numbers because survival rates of infants weighing 501-750 g at birth are now approaching 60%, and those of infants weighing 751-1000 g are now approaching 90%. The total incidence of ROP in infants weighing 501-750 g is almost 100% with severe ROP developing in about 30%. The total incidence of ROP in infants weighing 751-1000 g is almost 80% with severe ROP developing in about 10%. Whether the future total incidence of ROP and that of severe ROP will change is dependent on the unknown effects of the many new developments in the care of premature infants.

Anterior Segment Abnormalities in Cicatricial Retinopathy of Prematurity

Abnormalities that occur in the anterior segments of patients with retinopathy of prematurity have been studied in 72 eyes of 36 patients. The anterior chamber depth, the placido disc image on the cornea, the distortion of polarized light by corneal stress, and keratometry readings were recorded. There was a highly significant correlation between anterior chamber depth, retinopathy of prematurity, and keratometry readings (p less than .001). These findings emphasize the importance of careful follow-up examinations of the anterior segment in retinopathy of prematurity because cataracts, band keratopathy, acute hydrops, and angle-closure glaucoma can progressively occur as complications.

Scleral buckling in 2 1/2 to 11-month-old premature infants with retinal detachment associated with acute retrolental fibroplasia.

The authors report their experience over the past 5 years in the cryosurgical management of retinal detachment in 10 eyes of 8 premature infants with retrolental fibroplasia, whose ages at the time of detachment surgery ranged from 2 1/2 months to 11 months, with an average of 5 1/2 months. Postoperative follow-up, ranging from 8 to 61 months, has revealed that scleral buckling was successful in 6 eyes (60%). The authors have found that ERG responses are slow to become established postoperatively, and have concluded that VER testing is of questionable value in these cases.

Variable Expressivity of Autosomal Dominant Anterior Segment Mesenchymal Dysgenesis in Six Generations

Of 58 members in a six-generation family with anterior segment mesenchymal dysgenesis with variable expressivity, 21 of 35 members (60%) at risk were affected. Of the 15 living affected family members, nine (60%) had visual acuities of 6/12 (20/40) or better in at least one eye, five (33%) had visual acuities between 6/15 and 6/60 (20/50 and 20/200) in at least one eye, and one (7%) had a visual acuity of less than counting fingers at one foot in both eyes. All nine affected patients who underwent slit-lamp examinations had corneal abnormalities with and without synechiae. All 15 affected patients also had cataracts, and three of the 15 (20%) had optic nerve abnormalities. In a corneal button from the severely affected proband, Descemets layer and endothelial cells were absent even in the periphery. Other corneal and lenticular changes were secondary to the primary endothelial defect. Anterior segment mesenchymal dysgenesis in this family appeared to be caused by an aberration of the first wave of mesenchyme from the rim of the optic cup.

AN ASSOCIATION BETWEEN RETINOPATHY OF PREMATURITY AND INTRAVENTRICULAR HEMORRHAGE IN VERY LOW BIRTH WEIGHT INFANTS

ABSTRACT Procianoy, R. S., Garcia‐Prats, J. A., Hittner, H. M., Adams, J. M. and Rudolph, A. J. (Department of Pediatrics, Baylor College of Medicine, Texas Childrens Hospital, Houston, Texas). An association between retinopathy of prematurity and intraventricular hemorrhage in very low birth weight infants. Acta Paediatr Scand, 70:473,.–An association between cicatricial retinopathy of prematurity and intraventricular hemorrhage in very low birth weight infants was investigated retrospectively. Newborns were studied who weighed ≤1500 g at birth, who were ≤32 weeks gestational age and appropriate by weight, and admitted in the first 24 hours of life to our Neonatal Intensive Care Unit. Diagnosis of retinopathy of prematurity was made by retinal examination at approximately 4 weeks of age. Diagnosis of intraventricular hemorrhage was made by computerized tomography and clinical findings. A total of 138 infants were studied and divided into two groups: (A) birth weight ≤1000 g (31); (B) birth weight 1 001–1 500 g (107). There was a statistically significant association between cicatricial retinopathy of prematurity and intraventricular hemorrhage in both groups. There were no statistical differences between birth weight, gestational age, duration of oxygen therapy, highest oxygen concentration received, Apgar scores, incidence of hyaline membrane disease and patent ductus arteriosus between cicatricial retinopathy of prematurity and no retinopathy of prematurity patients in either group. This association may be an important consideration in the pathogenesis of both vascular diseases.

Variable Expressivity in Autosomal Dominant Aniridia by Clinical, Electrophysiologic, and Angiographic Criteria

Of 39 members in a family with autosomal dominant aniridia with variable expressivity, 16 members, representing 50% (15 out of 30) of those at risk, were affected. Of these, ten of 16 (63%) had visual acuity of 6/12 (20/40) or better in at least one eye, and six of 16 (37%) had visual acuity between 6/15 (20/50) and 6/60 (20/200) in at least one eye. Affected patients had nystagmus (12, 75%), cataracts (nine, 56%), strabismus (15, 94%), amblyopia (six, 37%), corneal pannus (one, 6%) glaucoma (one, 6%), macular hypoplasia (five, 31%), and optic nerve hypoplasia (one, 6%). The good visual acuity in this family indicates that absence of iris tissue is not responsible for the decreased visual acuity usually associated with aniridia. The decreased visual acuity correlates instead with a decreased macular reflex and with a decreased electroretinogram amplitude. Affected family members have abnormal persistence of vessels in the macular region angiographically, and when sufficient iris tissue is present to be studied angiographically, there are abnormal vascular loops and leakage of dye at the pupillary border.