Surgical Outcomes in Radiation-induced Cataracts After External-beam Radiotherapy in Retinoblastoma.

OBJECTIVES: To investigate visual outcomes, surgical complications and tumor recurrence among children with retinoblastoma undergoing phacoemulsification and posterior chamber intraocular lens (PCIOL) implantation for radiation-induced cataract secondary to external beam radiotherapy. MATERIALS AND METHODS: The medical records of all patients treated by phacoemulsification and PCIOL implantation for radiation-induced cataract after external beam radiotherapy for retinoblastoma at a single institution between 1980 and 2014 were reviewed retrospectively. The study included 6 eyes of 6 children (4 girls, 2 boys). RESULTS: Four patients had bilateral and two patients had unilateral retinoblastoma. The median age at diagnosis of retinoblastoma was 28.3 months (range, 12-96 months). All patients received chemoreduction (OPEC protocol) and external beam radiotherapy with or without local ophthalmic therapies and developed radiation-induced cataracts. The median interval from retinoblastoma diagnosis to cataract surgery was 96.3 months (range, 73-122 months). Time interval between surgery and last retinoblastoma treatment was 67.2 months. Postoperative complications included iridocyclitis in 2 eyes and posterior capsule opacification in all eyes. The mean follow-up after surgery was 105.8 months (range, 59-120 months). Final visual acuity was better in all eyes than preoperative visual acuities. CONCLUSION: Phacoemulsification and PCIOL implantation is an effective method of managing radiation-induced cataracts in eyes with previously treated retinoblastoma. However, visual acuity was limited by the presence of primary macular tumor.

Solitary lacrimal gland choristoma of the limbal conjunctiva.

Lacrimal gland choristoma occurs in cases with a failure in migration of any portion of the lacrimal secretory apparatus. It is a rare conjunctival tumor. The authors report the clinical and histopathologic features of a conjunctival lacrimal gland choristoma. A 34-year-old woman presented with a pinkish conjunctival mass in the left eye that had been present since birth. The lesion was removed by excisional biopsy and the histopathologic findings were consistent with conjunctival lacrimal gland choristoma. Clinically, these tumors resemble conjunctival hemangioblastoma, lymphangioma, or a lymphoid infiltrate. Its presence since birth, temporal epibulbar location, and pink solid appearance can help in the differential diagnosis.

Regression of conjunctival tumor during dietary treatment of celiac disease.

A 3-year-old girl presented with a hemorrhagic conjunctival lesion in the right eye. The medical history revealed premature cessation of breast feeding, intolerance to the ingestion of baby foods, anorexia, and abdominal distention. Prior to her referral, endoscopic small intestinal biopsy had been carried out under general anesthesia with a possible diagnosis of Celiac Disease (CD). Her parents did not want their child to undergo general anesthesia for the second time for the excisional biopsy. We decided to follow the patient until all systemic investigations were concluded. In evaluation, the case was diagnosed with CD and the conjunctival tumor showed complete regression during gluten-free dietary treatment. The clinical fleshy appearance of the lesion with spider-like vascular extensions and subconjunctival hemorrhagic spots, possible association with an acquired immune system dysfunction due to CD, and spontaneous regression by a gluten-free diet led us to make a presumed diagnosis of conjunctival Kaposi sarcoma.

Multiple anterior and posterior chamber pseudocysts in a 12-year-old boy with diffuse infiltrating retinoblastoma.

Diffuse infiltrating retinoblastoma is a rare subtype, occurring in 1% of all patients with retinoblastoma. It usually presents with pseudoinflammatory response in the anterior chamber and the vitreous, masquerading as endophthalmitis or uveitis. This report describes a 12-year-old boy with multiple free-floating intraocular pseudocysts as a unique finding in diffuse infiltrating retinoblastoma. These pseudocysts represent necrotic seeds without epithelial lining. Invasive surgical procedures should be avoided in children presenting with atypical, chronic, unilateral intraocular inflammation of unknown cause until retinoblastoma is excluded.

Familial retinoblastoma in developing countries.

BACKGROUND: Although screening for familial retinoblastoma has been shown to be beneficial we suspected that such screening programs may be less than optimal in developing countries (DC). METHODS: Retrospective cohort study comparing patients with familial retinoblastoma from five centers in DC (Argentina, Brazil, Turkey, Jordan, and Venezuela) versus a reference center in the USA. RESULTS: Ninety-two (32 from the USA and 60 from DC) patients were included. Forty-one (44.6%) patients avoided enucleation, 42 (45.7%) had 1 eye removed, and 9 (9.8%) underwent bilateral enucleation. Eleven (11.9%) had major pathology risk factors at enucleation. There were no cases of metastatic disease at diagnosis. Detection via screening was significantly less common in DC than in the USA (23.3% vs. 71.8%, P < 0.0001). Patients in DC were diagnosed at a significantly later age and with more advanced intraocular disease that led to increased risk of bilateral enucleation. Patients detected by screening in DC were significantly younger at diagnosis, had less advanced intraocular disease, better ocular preservation rates and survival results than those whose retinoblastoma was not detected via early screening. Five-year pEFS was 0.92 for the patients treated in the USA and 0.81 for the patients in DC (P = 0.42). Seven events occurred (extraocular relapse four in patients from DC and second malignancies in three). CONCLUSIONS: Patients with familial retinoblastoma are less likely to be diagnosed by screening in DC and had higher morbidity and mortality caused by recurrent extraocular retinoblastoma.

Primary orbital leiomyosarcoma.

A 79-year-old woman was presented with a 6-month history of painless proptosis in the left eye. On examination, there was a palpable superotemporal mass displacing the left eye inferomedially. Orbital CT revealed a heterogeneous, lobulated mass occupying the left orbital space with no bone erosion or destruction. MRI showed an extraconal, heterogenous, lobulated orbital mass in the lacrimal gland region of the left eye. The lesion was excised, and the diagnosis of leiomyosarcoma was made by histopathologic examination and immunohistochemistry. Systemic examinations were negative for a primary or a metastatic tumor. There was no evidence of tumor recurrence after 12 months of follow-up. Primary orbital leiomyosarcoma is a rare tumor that mainly occurs in older women and presents with painless proptosis. It should be considered in the differential diagnosis of superotemporal extraconal lesions.

Multiple orbital venous malformations presenting with enophthalmos in a patient with presumed blue rubber bleb nevus syndrome.

A 27-year-old white woman presented with enophthalmos in the right eye. The visual acuity was 20/20 in both eyes. External examination showed 7 mm of enophthalmos of the right eye with deepened superior palpebral sulcus compared with the left eye. After Valsalva maneuver, the right eye became 4-mm exophthalmic compared with the left eye. Extraocular movements were full. There was no palpable orbital mass or diplopia. MRI showed diffuse enhancing intraconal orbital and nasopharyngeal masses consistent with venous malformations in the right orbit. Systemic evaluation revealed bluish vascular lesions on the hard and soft palates, and the pretibial area of her right leg. These findings were suggestive of blue rubber bleb nevus syndrome. The patient was observed, and her clinical findings remained stable for 12 months. Enophthalmos can be a rare initial presentation of blue rubber bleb nevus syndrome and patients with ophthalmic involvement should undergo systemic evaluation including gastrointestinal, dermatologic, and otorhinolaryngologic examination.

A novel mutation in the NF1 gene in two siblings with neurofibromatosis type 1 and bilateral optic pathway glioma.

We present the clinical and ophthalmological findings, genetic analysis, and therapy of two siblings with NF1 and bilateral OPG. In genetic analysis, a heteroduplex profile was detected in exon 4b of the NF1 gene for the affected patients and mother. Sequencing of the DNA samples identified a C > T nucleotide change in exon 4b (c484CAG > TAG). This nonsense mutation resulted in a change of glutamine to a stop codon (Q162X) and is a novel NF1 gene alteration.

Congenital mesenchymal chondrosarcoma of the orbit: case report and review of the literature.

PURPOSE: To report the first case of congenital extraskeletal mesenchymal chondrosarcoma arising in the orbit. DESIGN: Interventional case report and review of the literature. METHODS: Ophthalmologic examination and computed tomography scan of the orbit were performed. Histologic and histochemical examination and immunohistochemistry of the biopsy specimen were evaluated. MAIN OUTCOME MEASURES: Ocular and systemic disease control. RESULTS: A 5-month-old girl was seen with a papillomatous lesion in the right lower tarsal conjunctiva present from birth. Histologic examination demonstrated an admixture of undifferentiated mesenchymal cells and islands of mature hyaline cartilage, and immunohistochemistry studies revealing positivity for vimentin and S-100 were consistent with the diagnosis of mesenchymal chondrosarcoma. The patient was treated with combined chemotherapy (ifosfamide, epirubicin, and cisplatin), radiotherapy, and surgery (exenteration). She is alive with no evidence of disease after 4 years of follow-up. Facial asymmetry and dental malformations have developed as late effects. Further reconstructive surgery is planned for the malformations. CONCLUSIONS: Extraskeletal mesenchymal chondrosarcoma in the orbit is extremely rare. This study reports the first case of congenital extraskeletal mesenchymal chondrosarcoma arising in the orbit (also the youngest patient) both in skeletal and extraskeletal sites. Multimodality treatment (surgery, chemotherapy, and radiotherapy) may lead to long-term survival.

Clinical features of tuberous sclerosis cases.

Tuberous sclerosis (TS) is an autosomal dominant, multisystemic and neurocutaneous disease with high spontaneous mutation rate, and it mostly involves the skin, brain, kidneys, heart and the eyes. This study included 35 patients diagnosed with tuberous sclerosis and aged 6 months to 17 years, with a mean age of 6.5+/-4.8 years. The most frequently observed manifestations were those of the skin (97.1%) and of the central nervous system (seizures 94.2%, mental retardation 51.4%), followed by renal (32.2%), cardiac (25.8%) and ocular (22.5%) manifestations. Among cutaneous manifestations, hypomelanotic macules (94.3%), facial angiofibromas (40%), shagreen spots (20%), fibrous plaques on the forehead (5.7%) and ungula fibromas (5.7%) were observed. Tonic seizures (37.1%) and infantile spasms (21.2%) accounted for majority of seizures. Neurophysiological development was normal in 25.6% of cases, retarded in 51.4% and borderline in 23%. Thirty-four patients had typical pathological findings on magnetic resonance imaging (MRI). In conclusion, the earliest and most frequent complaint is seizure in cases with TS. Careful investigation for hypomelanotic macules and other skin manifestations typical for TS in cases presenting with convulsion makes early diagnosis possible and obviates unnecessary investigations.