Extra Nodal Rosai-Dorfman Disease (Sinus Histiocytosis with Massive Lymphadenopathy) Presenting as Asymmetric Bilateral Optic Atrophy : An Atypical Ocular Presentation.

Rosai-Dorfman disease (sinus histiocytosis with massive lymphadenopathy, SHML) is a rare, non-hereditary, benign histiocytic proliferative disorder, presenting as painless bilateral cervical lymphadenopathy, with systemic symptoms. Extra nodal manifestations have been reported in 28-43 % cases with rare ocular involvement. We report a case of a 57 year old female presenting with gradual progressive decrease of vision OU since 8 months associated with epistaxis. Fundus examination revealed established optic atrophy in right eye with features of chronic papilloedema in left eye suggestive of compressive lesion. CT of brain, paranasal sinuses confirmed the presence of homogenously enhancing mass in left ethmoid sinus, left sphenoid sinus extending into suprasellar region. The biopsy of this mass revealed extra nodal SHML with tissue sections being S100 and CD68 positive with emperipolesis noted. Here we describe this atypical ocular presentation of extra nodal SHML to highlight that this rare disease can manifest as an aggressive sight threatening entity, even in older age group.

A Rare Case of An Atypical Solitary Fibrous Tumour of Orbit.

Solitary fibrous tumours are of mesenchymal origin and comprise of uncommon spindle cell neoplasias. Most commonly the lesions arise from pleura but other rarer sites include lungs, peritoneum, pericardium, nasal cavities, thyroid, parotid gland and orbit. We report the case of a 41-year-old male patient who presented to us with a painless, progressive growth of a mass in the superior part of left orbit with proptosis and inferotemporal displacement of the left eye. Computed Tomography (CT) scan revealed homogeneous enhancing lesion in the superior compartment of left orbit in the extraconal region, extending intraconally and distorting the globe. Upon imaging, the differential diagnosis were lacrimal gland tumour, atypical cavernous haemangioma and nerve sheath tumour. Surgical treatment included complete excision of the mass with the intraoperative finding of mass extending upto the superior oblique tendon, a part of which was excised. Histopathological examination revealed CD34 positive, Bcl-2 and MIC-2 positive tumour with the diagnosis of a solitary fibrous tumour with atypical features but no malignant features. After a follow-up of 18 months, no recurrence was detected.

Ocular features in Alport syndrome: pathogenesis and clinical significance.

Alport syndrome is an inherited disease characterized by progressive renal failure, hearing loss, and ocular abnormalities. Mutations in the COL4A5 (X-linked), or COL4A3 and COL4A4 (autosomal recessive) genes result in absence of the collagen IV α3α4α5 network from the basement membranes of the cornea, lens capsule, and retina and are associated with corneal opacities, anterior lenticonus, fleck retinopathy, and temporal retinal thinning. Typically, these features do not affect vision or, in the case of lenticonus, are correctable. In contrast, the rarer ophthalmic complications of posterior polymorphous corneal dystrophy, giant macular hole, and maculopathy all produce visual loss. Many of the ocular features of Alport syndrome are common, easily recognizable, and thus, helpful diagnostically, and in identifying the likelihood of early-onset renal failure. Lenticonus and central fleck retinopathy strongly suggest the diagnosis of Alport syndrome and are associated with renal failure before the age of 30 years, in males with X-linked disease. Sometimes, ophthalmic features suggest the mode of inheritance. A peripheral retinopathy in the mother of a male with hematuria suggests X-linked inheritance, and central retinopathy or lenticonus in a female means that recessive disease is likely. Ocular examination, retinal photography, and optical coherence tomography are widely available, safe, fast, inexpensive, and acceptable to patients. Ocular examination is particularly helpful in the diagnosis of Alport syndrome when genetic testing is not readily available or the results are inconclusive. It also detects complications, such as macular hole, for which new treatments are emerging.

The assessment of sleep apnoea as a risk factor in glaucoma.

BACKGROUND: The risk of developing open angle glaucoma increases in the presence of associated disorders such as hypertension, Diabetes mellitus and migraine. In recent years, sleep apnoea is also being investigated as a risk factor in the development of open angle glaucoma. AIM: To ascertain the significance of sleep apnoea as a risk factor in patients with glaucoma. Study Setting and Design: A non - randomised, cross sectional study was undertaken at an urban teaching hospital. MATERIAL AND METHOD: A sleep disturbance questionnaire and the Epworth sleepiness scale were used to screen the potential cases of sleep apnoea amongst 40 glaucomatous subjects, with both Primary Open Angle Glaucoma (POAG) and Normotensive Glaucoma (NTG), as well as 40 controls. Those which gave a positive response to the questionnaire were subjected to poly-somnography for the diagnosis of sleep apnoea, with the calculation of the Apnoea Hypopnoea Index. The data was analysed by using the Chi - square test and the odds ratio calculations. RESULTS: Positive responses to the sleep apnoea questionnaire were obtained from a total of twenty participants, 16 (40%) from the glaucoma Group and four (10%) were obtained from the control Group. In the glaucoma Group, ten (37.03%) of the 27 POAG individuals, and six (46.15%) of the 13 NTG cases showed significant positive responses to the questionnaire. Four subjects (10%) (1POAG, 3 NTG) from the glaucoma Group and one (2.5%) from the control Group were diagnosed to have sleep apnoea by polysomnography. The percentage of the sleep apnoea positive cases was higher among the NTG subjects (23.07%) than among the POAG subjects (3.7 %). This study had an odds ratio of 4.333 (>1) and a p value of 0.382. CONCLUSION: Although the odds ratio was significant, this study did not find the association between sleep apnoea and glaucoma to be statistically significant.