Joseph Giangiacomo

Pediatric ocular sarcoidosis

Sarcoidosis is an uncommon cause of childhood uveitis. However, the ophthalmologist familiar with the clinical features of childhood sarcoidosis can play a key role in the diagnosis and treatment of this disorder. Two subsets of pediatric sarcoidosis are identified. The 8-15 year age group has almost universal lung involvement, with the eye, skin, liver, and spleen involved in 30-40% of cases. Children 5 years of age and under are characterized by the triad of uveitis, arthropathy, and skin rash. The epidemiology, clinical features, diagnostic evaluation, and ocular management of pediatric sarcoidosis are reviewed. The clinical and laboratory findings that distinguish sarcoidosis from other causes of childhood uveitis are discussed.

Dominant Charge association

We had the opportunity to examine eight individuals in four generations of a family with dominant CHARGE association. In three generations there were five affected individuals. The 25-year old male proband had coloboma of the iris, retina and optic disc, mental retardation, hypogonadism, malformed ears, and mixed hearing loss. His 19-year old sister had colobomas of the retina, choroid, and disc, mental retardation and malformed ears. The mother of these two individuals had coloboma of the retina, choroid, and optic disc, dull mentality, and mixed hearing loss. The probands maternal grandmother had peripapillary staphylomatous changes of the disc, mixed hearing loss, and malformed protruding ears. The probands maternal uncle had mental retardation, hypogonadism, mixed hearing loss, protruding ears, but no colobomas. All of the affected individuals had a distinct configuration to the midface, including malar hypoplasia, prominent nasal columnella and a long nasal philtrum. The inheritance of the CHARGE association in this family would appear to be autosomal dominant. However, as the males have not reproduced, it is not possible to rule out X-linked dominant inheritance.

Sequential Cranial Computed Tomograhy in Infants with Retinal Hemorrhages

Five whiplash-shaken infants presented initially with lethargy, vomiting, irritability, and intraocular hemorrhage and had sequential cranial computed tomography (CT). In three of the five infants, results of the initial CT scans of the head were either normal or demonstrated subtle abnormalities. However, significant subdural hemorrhages which were demonstrated by subdural aspiration developed subsequently in all three infants. Results of repeat CTs of the head showed progressive ventricular dilation and symmetrical bilateral fronto-parietal subdural hematomas. The retinal hemorrhages preceded both the clinical and radiologic recognition of subdural hematoma. Results of the initial head CT of the remaining two children showed intracerebral hemorrhages, cerebral edema and subsequently subdural hematoma. The finding of unexplained retinal hemorrhages in some infants, even though the initial CT head scan may show only minimal changes, warrants monitoring of the head circumference, fundus, and repeat head CT as indicated.

Orbital Apex Syndrome

A case is presented of a 16-year-old anticoagulated, immunocompromised male presenting with a blind, proptotic left eye, total ophthalmoplegia, and central retinal artery occlusion. Ophthalmic examination revealed other features of the orbital apex syndrome. Mucormycosis misdiagnosed as a traumatic orbital hemorrhage led to the patients death. In this review, differential diagnosis of the orbital apex syndrome (loss of cranial nerves II, III, IV, ophthalmic division of V, and VI) is outlined, and features, diagnosis, and treatment of mucormycosis are discussed. Although mucormycosis is most commonly seen in diabetics, it should be considered in any immunocompromised patient presenting with the constellation of features of orbital apex syndrome.

Autosomal-dominant Inheritance of Congenital Superior Oblique Palsy

PURPOSE A pedigree comprised of five affected members is presented to demonstrate the genetic transmission of congenital superior oblique palsy. METHODS A 2-year-old boy referred for strabismus was found to have bilateral congenital superior oblique palsy. The authors subsequently performed a complete ophthalmologic examination on all available family members to determine the inheritance pattern. The diagnosis of congenital superior oblique palsy was based on results of prism cover testing, ductions, and the Bielschowsky head tilt test, in addition to a history of early onset of symptoms and absence of preceding head trauma. RESULTS The father, paternal grandfather, and a brother of the 2-year-old boy were found to have bilateral congenital superior oblique palsy. Evaluation of the paternal aunt showed right congenital superior oblique palsy. Bilateral absence of the superior oblique tendon was noted at the time of surgery in the 2-year-old boy. CONCLUSION The occurrence of genetic transmission by an autosomal-dominant mode should be considered in patients with congenital superior oblique palsy.

Histopathology of triamcinolone in the subconjunctiva.

Triamcinolone acetonide (TA) was injected subconjunctivally in nine human eyes one week before trabeculectomy. A biopsy specimen of conjunctiva and subconjunctiva was obtained from the site of drug injection, as well as a site 6 mm from the injection at the time of trabeculectomy. The tissue was evaluated by electron microscopy. TA was similarly injected subconjunctivally in ten normal rabbit eyes. For control purposes, six eyes were injected with the vehicle. Five animals were euthanized at one and two weeks post-injection and subconjunctival biopsy specimens from the drug site, at the margin of the drug site, and 180 degrees away from the drug site were subsequently examined by light and electron microscopy. At the drug site in both humans and rabbits, the subconjunctival fibroblasts were necrotic, the collagen fibers were altered in appearance, and there was infiltration of macrophages. The control site was unremarkable. These local morphologic changes may explain, in part, the mechanism(s) of action of injected TA.

Corneal Rupture Following Radial Keratotomy in Cats Subjected to BB Gun Injury

We performed this investigation to determine if radial keratotomy (RK) predisposes an eye to rupture when exposed to projectile trauma. Radial keratotomy was performed on 22 cat eyes; 17 eyes were used as controls. Incision depth was set at 90% by averaging ten corneal thickness readings by ultrasonic pachymetry of each cornea. An optical zone of 4.0 mm was used and eight incisions were made. Eight weeks after RK the cats were divided into three groups, subjected respectively to BB velocities of 148.5 ft/sec (N = 4), 190 ft/sec (N = 5), and 240 ft/sec (N = 13). In groups 1 and 2, all nine eyes had hyphemas and no eyes perforated. In group 3, four of 13 RK eyes had corneal rupture. All control eyes had hyphemas and none ruptured. The study suggests that RK can predispose to rupture eyes exposed to projectile trauma sufficient to produce hyphema.

Orbital and Childhood Sarcoidosis

Orbital infiltration, anterior uveitis, disc edema, choroiditis, erythema nodosum, and polyarticular arthritis due to sarcoidosis occurred in a five-year-old child who presented with unilateral proptosis. Diagnosis was enhanced by computerized tomography of the orbit, and confirmed by synovial biopsy findings. This patients course illustrates the importance of thorough and frequent ocular examinations in childhood uveitis associated with systemic disease and demonstrates an unusual finding of orbital sarcoidosis. Childhood sarcoid arthritis may be misdiagnosed as juvenile rheumatoid arthritis. Familiarity with the ocular and systemic findings may lead to the correct diagnosis.

Results of a single lateral rectus resection for divergence and partial sixth nerve paralysis.

A single 5.5-millimeter to 8.0-millimeter lateral rectus resection eliminated diplopia in five of six adult patients with divergence paralysis and in all three patients with a sixth cranial nerve paresis. Preoperative distance esotropia ranged from 11 to 20 prism diopters in primary gaze. Prism therapy failed in seven of nine patients. Lateral incomitance was reduced in three patients with a mild limitation of abduction preoperatively, but was not induced in the six patients with divergence paralysis. Significant overcorrection of the near esodeviation did not occur. A single lateral rectus resection can effectively eliminate diplopia in selected patients with divergence and partial sixth nerve paralysis.

Inflammatory response to viscoelastic materials.

Healon, Amvisc, or Viscoat was injected into the corneal stroma of 36 normal rabbit eyes. Twelve additional rabbit eyes were used as controls by performing a sham procedure. Twelve rabbits were euthanized at one day and the remainder seven days after injection. The eyes were enucleated and examined by light microscopy. No control eyes had detectable inflammation. Only Viscoat produced mild inflammation at seven days, but this was statistically significant only at p = 0.182. There appears to be little difference in the inflammatory response of these three viscoelastic substances.