Paul B. Mullaney

Retinal findings in children with intracranial hemorrhage

PURPOSE To identify the incidence of Tersons syndrome in children. DESIGN Prospective, observational case series. PARTICIPANTS Fifty-seven consecutive children with known intracranial hemorrhage from nonabuse causes. METHODS Dilated fundus examination to detect intraretinal hemorrhages or other abnormalities. MAIN OUTCOME MEASURES Presence or absence of intraretinal hemorrhages or other abnormalities. RESULTS Fifty-five patients (96%) had no evidence of intraretinal or vitreous hemorrhage. Two patients had abnormal retinal examinations. One patient had a single dot hemorrhage associated with presumed infectious white retinal lesions. The second patient had three flame and two deeper dot intraretinal hemorrhages after a motor vehicle accident (1.5% incidence of retinal hemorrhage). CONCLUSIONS Retinal hemorrhage is uncommon in children with intracranial hemorrhage not resulting from shaken baby syndrome. The maximal incidence of intraretinal hemorrhage in children with nonabuse intracranial hemorrhage is 8%.

Porous polyethylene orbital implant in patients with retinoblastoma

OBJECTIVE The purpose of the study was to assess integration of porous polyethylene allografts in 37 anophthalmic sockets of retinoblastoma enucleations. DESIGN A clinical review. PARTICIPANTS Thirty-four patients (19 female, 15 male) whose age when diagnosed with retinoblastoma ranged from 1 to 72 months participated. Sixteen patients had unilateral retinoblastoma and 18 had bilateral retinoblastoma. INTERVENTION Enucleation (3 bilateral, 31 unilateral) with implantation of a porous polyethylene (PP) sphere (16-20 mm in diameter) was performed. Of the 37 spheres, 34 were primary implants and 3 were secondary implants. In the eight patients with postimplantation exposure, the PP implant had to be removed. MAIN OUTCOME MEASURES Data on eight sockets with exposed PP implant were measured. RESULTS There were no implant extrusions, but conjunctival dehiscence-exposure occurred in eight patients (21.6%). In 3 of 37 sockets, the volume replacement was not good, and in 5 cases, fornices were too shallow to accommodate a well-fitting prosthesis. In all but one socket, the overall cosmesis was graded subjectively from acceptable (grade 2) to excellent (grade 3). CONCLUSIONS Although the PP implant is a useful and a less-expensive alternative to hydroxyapatite in the porous matrix implant category, if conjunctival exposure takes place, the implant presents a serious management problem because of its nonresponsiveness to medical and surgical treatments.

The natural history and ophthalmic involvement in childhood myasthenia gravis at the hospital for sick children.

OBJECTIVE To characterize signs, symptoms, and the natural history of myasthenic syndromes in pediatric patients. DESIGN Retrospective noncomparative case series. PARTICIPANTS Thirty-four patients with a diagnosis of myasthenia were identified from either the hospitals or treating physicians database. METHODS Retrospective chart review, clinical examination, and telephone interview. MAIN OUTCOME MEASURES Information pertaining to the ophthalmologic and neurologic examination, diagnostic interventions, and treatment was noted. Patients with active disease, attending during the study period, were examined at their outpatient visits. Those who no longer attended the hospital were contacted by means of a telephone interview to complete their follow-up. RESULTS Thirty-four children were found to have myasthenia. Two had transient neonatal myasthenia, which resolved quickly. Seven (20.6%) patients had congenital myasthenic syndromes (CMS) and 25 (73.5%, 19 females) were affected with autoimmune myasthenia gravis (AMG). In those patients with severe CMS, three showed signs of generalized weakness, including failure to thrive, frequent apneas, and aspirations. In four patients with mild CMS, eye signs were relatively more prominent. In all patients with CMS, strabismus, ophthalmoplegia, and ptosis were the main ophthalmologic signs and remained relatively constant. Fourteen (56%) patients with AMG had ocular signs and symptoms, and five of them progressed to systemic involvement in 7.8 months on average (range, 1-23). The remaining nine patients with ocular AMG had either strabismus or ptosis and were treated with pyridostigmine (nine patients) and prednisone (two patients). Patients with ocular AMG were seen at 78 months on average, those with systemic AMG at 85.6 months. Systemic AMG was seen in 16 patients. No thymomas were found in 14 patients who underwent thymectomy. Of the 25 patients with AMG, 8 are still being treated, 8 are in remission for an average of 65.2 months and are asymptomatic, 4 patients are receiving long-term immunosuppressants (1 has likely sustained permanent damage to her extraocular muscles with complete ophthalmoplegia and ptosis), and 4 have been lost to follow-up. Finally, one patient died after aspiration because of bulbar weakness. CONCLUSIONS Patients with CMS varied in the degree of severity. Apneic attacks, aspiration, and failure to thrive may obscure the diagnosis. Compared with AMG, their ophthalmologic signs and symptoms were usually permanent. Visual signs and symptoms were usually prominent in those patients with active AMG, but those in remission were asymptomatic. More than half of the patients with juvenile AMG had ocular symptoms. Generalization occurred in a minority in an average of 7.8 months. Patients entered remission after approximately 2 years of treatment and were visually asymptomatic. This study suggests that long-term permanent damage to the extraocular muscles as a result of juvenile AMG is rare. Myasthenia gravis is a life-threatening disease as evidenced by the death of one of our patients. Many of these patients are first seen by the ophthalmologist who can aid the diagnosis, screen for amblyopia, and monitor the patients response to therapy.

Workup for Metastatic Retinoblastoma: A Review of 261 Patients

PURPOSE The means available to screen for retinoblastoma metastases, including bone marrow aspiration, lumbar puncture, and radionuclide scans, offer variable usefulness at different stages of the disease. In this study, the authors attempted to assess the value of these tests as part of the initial workup for metastases. METHODS Medical files of 261 patients with retinoblastoma were reviewed, and the results of bone marrow, lumbar puncture, and bone and liver radionuclide scans were correlated with the laterality, clinical staging, and histopathologic findings. The presence or absence of tumor in the choroid and the optic nerve also were correlated with the results of diagnostic tests. RESULTS Of 261 patients with retinoblastoma, 147 (56.3%) and 114 (43.7%) had unilateral and bilateral disease, respectively; 11.6% of unilateral cases and 14.9% of bilateral cases had distant metastasis (P = 0.2). Bone marrow aspirations were performed on 101 patients (38.7%), and 10 (9.9%), of these specimens showed the presence of retinoblastoma cells in the aspirate. Ninety-four (36%) of the patients were examined with spinal tap cytology, and the results of four (4.3%) of these were positive for tumor cells. Radionuclide bone and liver scans were performed on 49 (18.8%) and 48 (18.4%) patients, respectively; 5 (10.2%) had abnormal bone scans and 3 (6.2%) had abnormal liver scans. The average age in the metastatic group was 3.1 years, whereas the average age in the nonmetastatic group was 2.3 years. All of our abnormal test results were found in patients with stages III and IV disease, with the exception of one abnormal lumbar puncture in a patient with stage II disease. The correlation of diagnostic tests with the histopathologic findings showed that with no choroidal involvement, no positive diagnostic tests were encountered. Correlation between positive diagnostic test results and the level of optic nerve involvement failed to indicate any trends. CONCLUSION Our study indicated a good interrelation between the positivity of diagnostic tests (bone marrow and bone scan) and higher stages of the disease (stages III and IV) and choroidal involvement in enucleated eyes, with statistically significant correlations; correlations with lumbar puncture and liver scan were not significant.

Diagnosis and Management of Iris Juvenile Xanthogranuloma

BACKGROUND Juvenile xanthogranuloma is a benign, self-limiting cutaneous disorder most commonly encountered during infancy. Approximately 10% of cases may develop ocular or adnexal involvement, most commonly in the iris. METHODS We review clinical and morphological features of four cases of iris juvenile xanthogranuloma that reflect the diagnostic and therapeutic spectrum. RESULTS Tissue diagnosis was confirmed in all cases; in one case, the disease was diagnosed with a skin biopsy and treated with local and systemic steroids, and its persistence in the iris was confirmed with a second tissue specimen obtained five months after systemic steroid treatment. CONCLUSION The diagnosis and treatment of juvenile xanthogranuloma may be straightforward, particularly in cases when the ocular lesion receives early attention and responds well to topical steroids, and when there is no hyphema. However, in other instances, this entity may be difficult to manage and may necessitate iris biopsy for diagnosis and radiation therapy for treatment.

Recognized globe perforation during strabismus surgery: incidence, risk factors, and sequelae.

BACKGROUND Inadvertent perforation of the globe is a well-recognized complication of extraocular muscle surgery. We evaluated the incidence, risk factors, and sequelae of this complication at our institution. METHODS Medical records of patients who underwent extraocular muscle surgery at King Khaled Eye Specialist Hospital, Saudi Arabia, between September 1983 and April 1997, were reviewed for the occurrence of globe perforation. We documented preoperative visual acuity and refraction, surgical procedure, how the perforation occurred, and immediate management, as well as the sequelae of the perforation, its management, and final outcome. RESULTS Recognized perforations occurred in 15 of 4886 procedures, for an overall incidence rate of 3/1000. Perforations were 3 times more common in myopic eyes (>-6.00 D, P =.05) and 2 times more common in eyes with previous extraocular muscle surgery. Perforations occurred during muscle reattachment (5 cases), placement of traction sutures at the limbus (4 cases with transient hyphema), muscle disinsertion (3 cases), and placement of sutures at the muscle insertion before disinsertion (3 cases). One patient had a large scleral laceration with uveal prolapse, necessitating scleral patch graft at the time of surgery, and later had retinal detachment surgery with loss of 2 lines of visual acuity. Endophthalmitis, cataract, glaucoma, and phthisis bulbi were not encountered in our review. CONCLUSION The current incidence of globe perforation is low and only rarely associated with serious sequelae.

Radiation therapy for Retinoblastoma: A retrospective review of 120 patients

PURPOSE To characterize the patient population and treatment outcomes in patients with Retinoblastoma (RB) referred for External Beam Orbital Radiotherapy (EBORT) to King Faisal Specialist Hospital & Research Centre (KFSH&RC), Riyadh, Saudi Arabia from 1976 to 1993. METHODS AND MATERIALS A retrospective study of 120 patients with RB affecting a total of 192 eyes. Patients were divided into three groups. Group A are 60 patients (64 eyes) treated with EBORT to the intact eye to preserve vision. Reese-Ellsworth (RE) Staging was: 1: 12%; 2: 10%; 3: 12%; 4: 23%; and 5: 43%. Twenty-eight patients (47%) also received Vincristine, Adriamycin, and Cyclophosphamide chemotherapy (C/T). Mean follow-up, per patient, was 48.5 months. Standard treatment until 1992 was 45 Gy in 12 fractions of 3.75 Gy, three times weekly over 18 days. Assuming the alpha/beta ratio for early effects and tumor control at 10, Tk = 21 days, Tpot = 5 days, then the Biological Equivalent Dose (BED) was 62 Gy10 for early effects, and 101 Gy3 for late effects. Group B are 28 patients (28 eyes) treated for curative intent with EBORT to the orbit for locally advanced disease, usually after enucleation (24 eyes). Nineteen patients (83%) also had C/T. Mean follow-up was 22.6 months. Group C are 37 patients with advanced disease treated with radiotherapy for palliation. Seventeen (46%) also received C/T. Mean follow-up was 11.7 months. RESULTS Group A-following EBORT useful vision was retained in RE Stage 1 to 5: 7 of 7, 6 of 6, 4 of 8, 10 of 15, and 7 of 28 eyes, respectively. There was no significant difference between patients who received adjuvant chemotherapy and those who did not. Complications included cataract (27%), retinopathy (25%), vitreous hemorrhage (19%), and orbital deformities (11%). In Group B the local control rate was 71%. In Group C, 10 (27%) of the 37 patients were alive at last contact, and 27 (73%) were either terminal or dead of disease. None of Group A or B patients had positive CSF cytology, bone scan, or bone marrow examination. In Group C 19% had positive CSF cytology, and bone marrow, and 14% had a positive bone scan. CONCLUSIONS 1) EBORT preserved useful vision in a significant proportion of patients even in eyes with advanced RE Stage RB, but longer follow-up is likely to reveal an even higher complication rate with this regime. 2) High dose per fraction probably contributed to the increased complications. 3) Chemotherapy did not demonstrate any effect on retaining vision in this study. 4) For disease that is confined to within the eye clinically and radiologically, invasive procedures for CSF cytology, bone marrow examination, and bone scan do not seem warranted. 5) The optimum technique, fractionation, and dosage for RB is still not well defined.

Management of ophthalmic complications of homocystinuria

OBJECTIVE To determine the safety and efficacy of surgical versus medical management in the treatment of ophthalmic complications of homocystinuria, and also to document ocular complications of homocystinuria other than lens dislocation. DESIGN Retrospective case series. PARTICIPANTS Forty-five patients with ophthalmic complications of homocystinuria participated. INTERVENTION Eighty-four surgical procedures were performed on 40 patients. There were 82 procedures done with the patients under general anesthesia and 2 with the patients under local anesthesia. Medical therapy was attempted initially in all patients with lens dislocation and was the sole therapy used for five patients. MAIN OUTCOME MEASURES Complications resulting from medical or surgical treatment and final visual acuity were studied. RESULTS All patients had a history of lens subluxation or dislocation. Fourteen (31%) were receiving dietary treatment at the time of presentation and 29 (64%) were mentally retarded. Eighty-two procedures were performed with the patients under general anesthesia with 2 surgical complications and 1 postsurgical complication. Lens dislocation into the anterior chamber was the most frequent indication for surgery (50%) followed by pupillary block glaucoma (12%). Prophylactic peripheral iridectomy was not successful in preventing lens dislocation into the anterior chamber in five patients. Anesthetic precautions such as stockings to prevent deep venous thrombosis, preoperative hydration, or aspirin were given in 85% of cases. Other common ophthalmic complications found include optic atrophy (23%), iris atrophy (21%), anterior staphylomas (13%), lenticular opacities (9%), and corneal opacities (9%). CONCLUSION Laser iridectomy was unsuccessful in preventing lens dislocation into the anterior chamber. With appropriate anesthetic precautions and modern microsurgical techniques, the risks associated with the surgical management of ocular complications of homocystinuria are reduced. Surgical treatment should be considered, especially for cases of repeated lens dislocation into the anterior chamber or pupillary block glaucoma. If a conservative, nonsurgical approach is undertaken, these patients must be observed carefully for repeat episodes of lens dislocation.

Congenital Hereditary Endothelial Dystrophy Associated with Glaucoma

BACKGROUND Three children, ranging in age from 2 to 6 months, had diffuse and homogeneously opaque corneas, clinically consistent with congenital hereditary endothelial dystrophy. Bilateral elevated intraocular pressure (IOP) was a feature in all three children. METHODS Initially, all patients underwent glaucoma surgery to reduce IOP. Subsequently, a penetrating keratoplasty was performed in one eye of each patient to clear the visual axis. The excised corneal button was examined by light microscopy and by transmission and scanning electron microscopy. RESULTS Postoperatively, all patients maintained clear corneal grafts. Results of histopathologic examination showed an absence of the endothelial cell layer in all patients. The presence of a variably thick collagenous layer posterior to the anterior banded zone of Descemets membrane and the absence of endothelial cells were noted on transmission electron microscopy. Scanning electron microscopy confirmed absent, or scanty, and abnormal endothelial cells. CONCLUSION The authors describe three patients with a clear association between congenital glaucoma and congenital hereditary endothelial dystrophy. This combination should be suspected where persistent and total corneal opacification fails to resolve after normalization of IOP.

Glaucoma in Sturge-Weber syndrome ☆

BACKGROUND In glaucoma associated with Sturge-Weber syndrome (SWS), medical treatment often fails to control intraocular pressure, thus requiring surgical intervention that may result in serious complications. METHODS Eighteen consecutive patients with SWS were reviewed retrospectively at the King Khaled Eye Specialist Hospital. An intraocular pressure less than 20 mm Hg, plus stable optic nerve cup-to-disc ratio and corneal diameter (or visual fields where appropriate), were parameters chosen to indicate that the glaucoma was being controlled. RESULTS Glaucoma was found in 15 of 18 patients (22 eyes). The mean follow-up time was 62 months (range, 12 to 148 months). Medical treatment alone was successful in 5 patients (7 eyes); the remainder required surgical intervention. The initial surgical procedures included cyclocryotherapy, YAG laser goniotomy, surgical goniotomy, and trabeculotomy or trabeculectomy. Eight eyes required subsequent surgery, 5 with Molteno or Ahmed implants. Early postoperative choroidal effusion and hemorrhage occurred in 4 eyes and resolved spontaneously. Hemorrhagic choroidal detachment with total retinal detachment developed in 2 patients 3 to 5 months after surgery. In 1 patient a recurrent serous choroidal detachment after suture lysis was associated with total optic atrophy. CONCLUSIONS Glaucoma in SWS is common. Control of glaucoma was successfully achieved with medical treatment in 7 of 22 eyes of our 15 SWS-glaucoma patients, and we consider it the initial treatment of choice. Of the 15 eyes that required surgery, late postoperative complications resulted in loss of vision as a result of persistent postoperative hypotony in 3 eyes that underwent surgical procedures.