Congenital glaucoma and other ocular abnormalities associated with pericentric inversion of chromosome 11.

Pericentric inversion of chromosome 11 occurred in consecutive generations of family members with congenital glaucoma. Affected persons were characterized by unilateral or bilateral congenital glaucoma, bilateral corneal disease, and a lack of appreciable dysmorphism. Previous reports of inversions of chromosome 11 are rare, and no ocular abnormalities have been noted. Chromosomal abnormalities may be the cause of some forms of congenital glaucoma and should be included in the genetic heterogeneity of this disease.

Bilateral retinal detachment following cytomegalovirus retinitis.

Bilateral retinal detachments developed in a renal allograft patient several months after the onset of cytomegalovirus retinitis. Laser photocoagulation was used to limit the posterior extent of one detachment until the detachment was surgically repaired. The thinned, atrophic retina that results from the necrotizing retinitis makes localization of retinal holes difficult and, in this case, contributed to the initial impression that these detachments were nonrhegmatogenous in origin.

Congenital glaucoma associated with a chromosomal defect. A histologic study.

A pair of eyes with congenital glaucoma, one treated by goniotomy, was examined by light and electron microscopy. Examination of the drainage angles afforded the opportunity to compare anatomic changes in the treated eye with the surgically unaltered tissue of the fellow eye. The congenital glaucoma appeared to arise from compression of the trabecular meshwork and closure of the intertrabecular and transtrabecular spaces by a discontinuous "membrane" consisting of ectopic trabecular pillars that bridged the drainage angle from the iris root to the normally positioned uveal meshwork. Cleavage of trabecular pillars during goniotomy and conversion of angle architecture to that of a nonglaucomatous neonatal eye suggest that aberrant or ectopic trabecular pillars acted mechanically in maintaining angle compression. The uveal and corneoscleral meshwork and Schlemm's canal are present and appear normal.

A clinicopathologic study of 56 cases of intraocular medulloepitheliomas.

A clinicopathologic and follow-up study of 56 intraocular medulloepitheliomas in the Registry of Ophthalmic Pathology revealed a mean age of five years at the time of definitive diagnosis, most patients having had a delay in surgical therapy of more than one year after onset of signs or symptoms. Histologic evidence of malignancy was observed in 37 tumors, and follow-up studies revealed four patients to have died of metastatic disease. Heteroplastic elements (brain tissue, cartilage, or rhabdomyoblasts) were observed in four benign and 17 malignant tumors; these 21 were designated teratoid medulloepitheliomas. The most important prognostic feature was extraocular extension, observed in ten cases. All four of the known tumor deaths were preceded by clinically obvious orbital spread. In four additional cases with orbital involvement the patients were lost to follow-up. We concluded, therefore, that the prognosis is worse than the results of this study would indicate, especially among those cases observed to habe extraocular extension.

An analysis of treatment of congenital glaucoma by goniotomy.

We used goniotomy as the initial surgical procedure in 34 patients (50 eyes) with congenital glaucoma. An overall success rate of 88% was achieved with one or more goniotomies. The age at disease onset, level of intraocular pressure, and corneal diameter did not significantly influence the surgical outcome. The refractive error proved to be a valuable indicator of operative success or disease progression. A satisfactory visual outcome was associated with treatment by goniotomy.

Focal dermal hypoplasia: ocular manifestations in a male.

Focal dermal hypoplasia (Goltz Syndrome) is a rare congenital disorder resulting from ectodermal and mesodermal dysplasia. It involves ocular tissues in over 40% of cases. Considered to be X-linked dominant, the disorder characteristically occurs in females. This case represents, however, the ninth male affected by this disease to be reported in the literature. Ocular abnormalities included colobomatous microphthalmia, aniridia, and recurrent papillomas arising from the conjunctiva and lid margins. Both light and electron microscopic studies performed on papillomatous tissue failed to demonstrate the presence of viral particles. Prometaphase chromosome analysis performed on peripheral blood cells, and on papilloma cells grown in tissue culture, showed a normal male karyotype of 46, XY.

Antiemetic effectiveness of intraoperatively administered droperidol in pediatric strabismus outpatient surgery--preliminary report of a controlled study.

Low doses (0.05 mg/kg) of intravenously administered droperidol were given intraoperatively to randomly assigned pediatric strabismus patients in a controlled double-masked paradigm. No difference between control and treatment groups in the severity of vomiting was noted in the postanesthesia recovery room, but such a difference was probably present in the hospital rooms during the interval between room arrival and the meeting of hospital discharge criteria. Administration of the drug did not appear to produce somnolence sufficient to delay postoperative recovery.

Nonpulsatile exophthalmos in carotid-cavernous sinus fistula.

An unusual case of carotid artery-cavernous sinus fistula with pulseless exophthalmos is presented in a two and one-half year old child. Though exophthalmos and increased episcleral venous distention were present, the ophthalmic artery pressure was not significantly altered as determined by ocular pneumoplethysmography. Consequently there was no evidence of hypoxic sequelae which frequently occur with this arteriovenous shunt. The combined use of arteriography and ocular pneumoplethysmography is advocated for determining and characterizing the presence of significant intracranial arteriovenous disease.

Congenital ptosis. Results of treatment using lyophilized fascia lata for frontalis suspensions.

In a prospective collaborative study, congenital ptosis was repaired using lyophilized allogeneic fascia lata as the suspension material for frontalis sling procedures. Over 50 cases of unilateral and bilateral ptosis procedures were performed by pediatric ophthalmologists during the initial study period. No infections or evidence of tissue rejection were reported during a follow-up period of up to 24 months. Four failures, ascribed to slippage, were noted within the first several months and required regrafting. In an additional case, minimal slippage occurred, but resulted in satisfactory lid levels. All remaining cases achieved satisfactory cosmetic and functional results. Most collaborators found this form of preserved fascia lata to be superior to nylon polyfilament, cable-type suture. Clinical features of the patient population included a high incidence of strabismus (28%) and amblyopia (24%).