Sahar M. Elkhamary

Correlation of Apparent Diffusion Coefficient at 3T with Prognostic Parameters of Retinoblastoma

BACKGROUND AND PURPOSE: Pathologic prognostic parameters for retinoblastoma have been defined. Our purpose was to correlate ADC values at 3T with prognostic parameters of retinoblastoma. MATERIALS AND METHODS: This study included 72 children (30 boys and 42 girls, mean age 19 ± 2.6 months) with retinoblastoma. Pretreatment diffusion-weighted MR imaging was performed on a 3T scanner with b factors of 0, 500, and 1000 seconds/mm2. ADC values were calculated and pathologic specimens were analyzed. ADC values of the tumors were then correlated with prognostic parameters, including degree of histologic differentiation, tumor size, bilaterality, choroidal invasion, and optic nerve extension. RESULTS: The mean ADC value of retinoblastoma was 0.49 ± 0.12 × 10−3 mm2/s. The ADC values of well- and moderately differentiated tumors were significantly different (P = .007) from poorly and undifferentiated retinoblastoma. There was also a significant difference in the ADC value among small, medium, and large tumors (P = .015), as well as between unilateral and bilateral retinoblastoma (P = .001), and this was independent of the degree of differentiation. The ADC value was also significantly lower (P = .003) when optic nerve invasion was present. There was no correlation of ADC value with growth pattern or choroidal invasion (P = .640 and 0.661, respectively). The ADC value of retinoblastoma was well correlated with the degree of differentiation of the tumor (r = 0.87, P = .007) and inversely correlated with the size of the tumor (r = −0.68, P = .015). CONCLUSIONS: ADC correlated with some of the accepted parameters of poor prognosis for retinoblastoma and may serve as a noninvasive prognostic parameter for assessment of newly diagnosed retinoblastoma.

The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy

Background Conorenal syndrome is a systemic skeletal ciliopathy characterised by skeletal and renal findings and caused by biallelic mutations in the gene intraflagellar transport 140 Chlamydomonas homologue (IFT140). Most studies have focused on syndromic features and are by non-ophthalmologists. We highlight the ophthalmic phenotype. Methods Retrospective consecutive case series (2010–2014). Results Twelve subjects with confirmed homozygous mutations were identified (11 consanguineous families; 7 boys; assessed at age 10 months to 20 years, average and median age 6.5 and 4 years). All were homozygous for the same IFT140 mutation (c.1990G>A; p.Glu664Lys) except one who was homozygous for c.1541_1542delinsAA. All had poor vision and nystagmus since birth, with visual acuity after 5 years old of hand motions or light perception. In early childhood, nine were noted to stare at lights, four were noted to have a happy demeanour, high hyperopia was typical, and electroretinography was non-recordable. Fundus appearance was grossly normal before the age of 1 year but thereafter appeared dystrophic. Eight children had developmental delay, two had short stubby fingers, and one had renal disease, but four had no evident extraocular disease, including one aged 18 years who also had two older affected siblings in their twenties who remained non-syndromic and were excelling academically. Conclusions Recessive IFT140 mutations cause a severe congenital retinal dystrophy with high hyperopia and often early photophilia. Developmental delay is common but not universal and not all patients have obvious extraocular findings. The c.1990G>A mutation represents a founder effect or mutational hotspot on the Arabian Peninsula.

Ophthalmic Features of Outpatient Children Diagnosed with Intracranial Space-Occupying Lesions by Ophthalmologists.

Introduction: Brain tumors in children often involve the visual system, but most retrospective series are by neurologists or oncologists. In this study we highlight the ophthalmic findings of outpatient children with visual complaints and/or strabismus who, based on ophthalmic examination, were suspected to and confirmed to harbor intracranial space-occupying lesions by magnetic resonance imaging (MRI). Materials and Methods: Retrospective case series of children (less than 18 years) who for visual complaints and/or strabismus underwent cranial MRI at a referral eye hospital (2005-2012), which revealed intracranial space-occupying lesions. Exclusion criteria were known preexisting orbital or ocular trauma, ocular tumor, or neurological disease. Results: For 26 patients (3 months-17 years; mean 7 years; median 9 years; and 14 boys), the most common clinical presentation was decreased vision with disc pallor (10) or swelling (three). Other presentations were strabismus with disc pallor or swelling (four; two of which were left sixth nerve palsies), acquired esotropia with diplopia (three; one bilateral and two left sixth nerve palsies), acquired exotropia (four; two of which were bilateral third nerve palsies, one of which was left partial third nerve palsy, and one of which was associated with headache), nystagmus (one), and disc swelling with headache (one). Most lesions were in the sellar/suprasellar space (10), posterior fossa (six), or optic nerve/chasm (four). Conclusions: The majority of outpatient children diagnosed by ophthalmologists with intracranial space-occupying lesions presented with disc swelling or pallor in the context of decreased vision or strabismus. Two strabismus profiles that did not include disc swelling or pallor were acquired sixth nerve palsy and acquired exotropia (with ptosis (third nerve palsy), nystagmus, or headache).

Epithelial lacrimal gland tumors: A comprehensive clinicopathologic review of 26 lesions with radiologic correlation

Aim To study the prevalence, clinicopathological and radiological correlations of epithelial lacrimal gland tumors and compare these with similar published literature. The study was also designed to look at the natural history of benign mixed tumors (BMT) in regard to recurrence and malignant degeneration. Methods This was a retrospective study of all suspected epithelial tumors of the lacrimal gland surgically excised at King Khaled Eye Specialist Hospital (KKESH) for the period: 1983–2008. Exclusion criteria included structural lesions (dacryops) and inflammatory lesions. We included 26 cases of epithelial lacrimal gland tumors (from 24 patients). The histopathologic slides and the radiologic findings were reviewed. The corresponding demographic and clinical data were obtained by chart review using a data sheet. Results BMT accounted for 12/26 of the lesions while malignant lesions including adenoid cystic carcinoma (ACC) were more common (14/26). The mean age was 44.27 years (range 12–75). Commonest clinical presentation was proptosis. Median duration of symptoms in the BMT cases was 30 months and 7 months in the ACC group. The 12 BMT cases were primary in 9 and recurrent in 3 patients. The 11 ACC cases showed mostly cribriform pattern and low histopathologic grade. We had 2 cases of malignant mixed tumor (MMT) one of which arising in a recurrent tumor. One case of primary mucoepidermoid carcinoma with histopathologic grade 2 was noted. Radiologically, a well-defined appearance with bone remodeling was observed in BMT in contrast to invasive appearance with destruction in malignant lesions. Conclusion Our series information indicated a different distribution of benign and malignant epithelial lesions with a slightly higher rate of malignancy. BMT was the commonest benign tumor where recurrence was a squeal of incomplete surgical excision. ACC was the commonest malignant tumor with shorter duration of symptoms and radiologic evidence of invasiveness that correlated with the histopathologic features.

Primary orbital liposarcoma: Histopathologic report of two cases

Liposarcoma is a malignant tumor of adipose tissue. Considered the most common soft tissue sarcoma in adults, orbital liposarcoma is extremely rare. Most cases of orbital liposarcoma are primary and rarely metastatic. We report two cases of primary orbital liposarcoma with clinical presentation, radiologic studies (available for one case), and detailed histopathologic features. A brief review of primary orbital liposarcoma is also presented.

Cupping of the optic disk after methanol poisoning

Purpose To assess the frequency and significance of optic disk cupping after methanol poisoning. Methods We retrospectively reviewed the medical records of 50 consecutive patients with methanol poisoning, including visual acuity, pupillary reaction, and optic disk features such as the presence and degree of cupping. All patients were examined in the chronic phase after optic nerve damage. Results Optic disk cupping ≥0.8 c/d was present in at least one eye of 22 of these 50 patients (43/100 eyes). Severity of cupping was statistically symmetric in the two eyes, and increasing severity of cupping was correlated with worse visual acuity (p=0.007) and increasing visual field loss. Degree of cupping was significantly correlated with increasing patient age but not with putaminal necrosis. Conclusions Optic disk cupping after methanol poisoning may be more common than previously recognised. Cupping in this setting may reflect toxicity of methanol metabolites to axons and glial cells in the prelaminar, laminar and retrolaminar regions, and seems to be important as a marker for worse optic nerve damage.

Ocular motility abnormalities in orbitofacial neurofibromatosis type 1

PURPOSE To evaluate the causes of ocular motility disturbances in a group of patients with orbitofacial neurofibromatosis (OFNF) with neurofibromas on the lid, brow, face, or in the orbit from infancy or early childhood. METHODS The medical records of patients with OFNF from one institution were retrospectively reviewed; selected patients were reexamined. RESULTS A total of 45 patients with unilateral OFNF and 4 with bilateral OFNF were included. Of these, 14 had no strabismus and relatively good vision, with no ductional abnormalities on either side despite large globes, sphenoid dysplasia, and neurofibromas in the orbit and/or cavernous sinus in many. The 8 patients with comitant strabismus also had no ductional abnormalities with a similar constellation of anatomic abnormalities, but these patients all had poor vision in at least one eye. The 27 patients with incomitant strabismus all had downward displacement of the globe and limited ductions. CONCLUSIONS The pathologic anatomic changes associated with OFNF do not always cause ocular motility abnormalities: strabismus generally was not present when ocular motility was full and visual acuity was good. Comitant strabismus occurred in the setting of full ocular motility with reduced vision in at least one eye. Incomitant strabismus was always accompanied by reduced vision and a ductional abnormality in one or both eyes due to anatomic abnormalities of the orbit and skull.

Bilateral optic nerve sheath meningioma with intracanalicular and intracranial component in a 25-year-old Saudi patient

Bilateral optic nerve sheath meningioma is rare. A meningioma is a benign neoplastic lesion from meningothelial cells of the meninges. They usually involve the intracanalicular portion of the optic nerve but may extend into the optic canal and through it to occupy the intracranial space. We present a case of 25-year-old Saudi female with bilateral optic nerve sheath meningioma. The diagnosis was delayed more than six years from initial symptoms.

Isolated superior oblique muscle extranodal marginal zone B cell lymphoma: case report

We describe a rare case of isolated extraocular muscle ocular adnexal lymphoma of a middle-aged female who presented with redness in the left eye associated with progressive proptosis over one year. Magnetic resonance imaging of the orbit indicated isolated enlargement of the left superior oblique (SO) muscle with an apparent diffusion coefficient (ADC) of (0.77 ± 0.11 × 10−3 mm2/s). Histopathology with immunohistochemical staining of the incisional biopsy from the SO muscle belly confirmed the diagnosis of extranodal marginal zone B cell lymphoma.

Dacryocystocele After Successful External Dacryocystorhinostomy: A Variant of the Lacrimal Sump Syndrome.

A 25-year-old man presented with a mass on the right medial canthus after a successful dacryo cys torhinostomy performed 3 years ago. On examination, there was a firm, nondepressible mass inferior to the medial canthal ligament and a linear vertical scar on the lateral wall of the nose. Syringing through the right lower punctum indicated his lacrimal system was patent. Computed tomography and magnetic resonance imaging disclosed a large cystic lesion in the lacrimal sac fossa. No bone erosion was detected. The mass was approached through a tear trough incision and completely resected. The lacrimal anastomosis that was highly placed remained patent after surgery. Histopathology of the specimen revealed a cystic lesion compatible with lacrimal origin (dacryocystocele).