Evaluation of Meibomian gland dysfunction using meibography in patients with xeroderma pigmentosum

ABSTRACT Purpose: To assess Meibomian gland dysfunction using meibography in patients with xeroderma pigmentosum and correlate with ocular surface changes. Methods: This cross-sectional study evaluated patients with xeroderma pigmentosum. All patients underwent a comprehensive and standardized interview. The best-corrected visual acuity of each eye was determined. Detailed ophthalmic examination was conducted, including biomicroscopy examination of the ocular surface, Schirmer test type I, and meibography, and fundus examination was also performed when possible. Meibomian gland dysfunction was assessed by non-contact meibography using Oculus Keratograph® 5M (OCULUS Inc., Arlington, WA, USA). Saliva samples were collected using the Oragene DNA Self-collection kit (DNA Genotek Inc., Ottawa, Canada), and DNA was extracted as recommended by the manufacturer. Factors associated with abnormal meiboscores were assessed using generalized estimating equation models. Results: A total of 42 participants were enrolled, and 27 patients underwent meibography. The meiboscore was abnormal in the upper eyelid in 8 (29.6%) patients and in the lower eyelid in 17 (62.9%). The likelihood of having abnormal meiboscores in the lower eyelid was 16.3 times greater than that in the upper eyelid. In the final multivariate model, age (p=0.001), mutation profile (p=0.006), and presence of ocular surface malignant tumor (OSMT) (p=0.014) remained significant for abnormal meiboscores. For a 1-year increase in age, the likelihood of abnormal meiboscores increased by 12%. Eyes with OSMT were 58.8 times more likely to have abnormal meiboscores than eyes without ocular surface malignant tumor. Conclusion: In the final model, age, xeroderma pigmentosum profile, previous cancer, and clinical alterations on the eyelid correlated with a meiboscore of ≥2. Meibomian gland dysfunction was common in patients with xeroderma pigmentosum, mainly in the lower eyelid. The severity of Meibomian gland dysfunction increases with age and is associated with severe eyelid changes.

Impression cytology of ocular surface in xeroderma pigmentosum

ABSTRACT Purpose: To describe cellular alterations detected by impression cytology of the ocular surface in patients with xeroderma pigmentosum. The secondary objective was to assess the reliability of impression cytology in diagnosing ocular surface squamous neoplasia. Methods: Patients with xeroderma pigmentosum underwent a single-day complete ophthalmological examination and impression cytology for ocular surface evaluation using 13 mm diameter mixed cellulose esters membrane filters and combined staining with Periodic Acid Schiff, Hematoxylin and Eosin, and Papanicolaou stains followed by microscopic analysis. The cytological findings were correlated with the clinical diagnosis. The impression cytology findings at baseline and one-year follow-up were correlated with the clinical course (no tumor, treated tumor, residual tumor recurrent tumor, new tumor). Results: Of the 42 patients examined, impression cytology was performed in 62 eyes of 34 participants (65% females). The mean age of patients was 29.6 ± 17 years (range 7-62). Fifteen eyes had a clinical diagnosis of ocular surface squamous neoplasia. Impression cytology showed goblet cells (47, 75%), inflammatory cells (12, 19%), keratinization (5, 8%), and squamous metaplasia (30, 48%). Impression cytology was positive for atypical cells in 18 patients (12 with and 6 without ocular surface squamous neoplasia). The sensitivity, specificity, positive predictive value, and negative predictive value of impression cytology (at baseline) for diagnosis of ocular surface squamous neoplasia were 80%, 87%, 67%, and 93%, respectively, using clinical diagnosis of ocular surface squamous neoplasia as the reference standard. Conclusion: Impression cytology has a moderate positive predictive value for the diagnosis of ocular surface squamous neoplasia in patients with xeroderma pigmentosum. However, the lack of detection of atypical cells on impression cytology has a high negative predictive value for ocular surface squamous neoplasia. Integration of impression cytology in the long-term management of high-risk patients, such as patients with xeroderma pigmentosum, can avoid unnecessary diagnostic biopsies.

Epidemiological study of cardiovascular risk factors among public transport drivers in rural area of Chittoor district of Andhra Pradesh.

Background: Non communicable diseases (NCDs) are considered as one of the major health and development challenges of the 21st century, recent studies had demonstrated that transport drivers are at greater risk of developing cardiovascular diseases due to an incorrect diet, sedentary behavior, unhealthy lifestyles and obesity. The objective of the study was the study was conducted with the aim of assessing some cardiovascular risk factors and its relation to sociodemographic variables. Methods: Cross sectional study was carried out from Jan 2013 to June 2013 with transport drivers of APSRTC of Venkatagiri Kota. Data was collected regarding socio-demographic profile, diabetes, use of medication, tobacco and alcohol consumption, work schedules and perceived occupational problems and their blood pressure and anthropometry were also measured & analyzed using SPSS software. Results: 204 transport drivers were studied. Out of95 tobacco consumers 68 were smokers and 27 were tobacco chewers and 110 subjects were alcohol consumers. Perceived reasons for smoking were it suppresses cold (27.94%) and enables to concentrate on work (20.58%). Perceived reasons for alcohol consumption were peer pressure (17.2%) and it suppresses cold (20%). Among 204 subjects 36.2% were pre-obese and 34.8% were obese with 23.05% of pre-hypertensive and 14.21% hypertensive. Duration of alcohol intake and tobacco use, BMI, WHR & WC were significantly associated with hypertension. Conclusions: There is a high prevalence of risk factors of cardiovascular disease with various perceived reasons and they were statistically significantly associated with hypertension.

Fine needle aspiration biopsy of ophthalmic tumors

A majority of intraocular tumors can be diagnosed based on clinical examination and ocular imaging studies, which obviate the need for diagnostic ophthalmic fine needle aspiration biopsy [FNAB]. Overall, diagnostic accuracy of ophthalmic FNAB is high but limited cellularity can compromise the diagnostic potential of ophthalmic aspirate samples. The role of ophthalmic FNAB is limited in retinal tumors. Orbital FNAB should be considered in the evaluation of lacrimal gland tumors, orbital metastasis, and lymphoproliferative lesions. Negative cytologic diagnosis of malignancy should not be considered unequivocal proof that an intraocular malignancy does not exist. With improved understanding of genetic prognostic factors of uveal melanoma, ophthalmic FNAB is gaining popularity for prognostic purposes in combination with eye conserving treatment of the primary tumor. In special clinical indications, ancillary studies such as immunohistochemistry and FISH can be performed on ophthalmic FNAB samples. Assistance of an experienced cytopathologist cannot be overemphasized

Vascular tumors of the retina and choroid: diagnosis and treatment

The vascular tumors of the retina and choroids comprise a diverse group of congenital and acquired lesions. The major vascular tumors of the retina include retinal capillary hemangioma, cavernous hemangioma of the retina, retinal vasoproliferative tumor, and racemose hemangiomatosis of the retina or Wyburn-Mason syndrome. Choroidal vascular tumors include circumscribed choroidal hemangioma and diffuse choroidal hemangioma. While classified as benign, visual symptoms secondary to exudative retinal detachment and a variety of other mechanisms are common and are a major source of long-term visual disability. While many therapeutic modalities exist, treatment of symptomatic cases can be challenging. Of particular importance, many of the vascular tumors of the retina and choroids have significant associations with systemic disease. As ocular symptoms are often the most common presenting disease manifestation, the ophthalmologist plays an important role in accurate and early diagnosis. The ability to initiate prompt screening and treatment in appropriate cases is critical. In the following article, the key clinical and diagnostic features of the major retinal and choroidal vascular tumors, their systemic associations, and the literature pertaining to the most currently available treatment strategies are reviewed

Intraocular vascular tumors

It is important to distinguish between uveal and retinal vascular tumors. Choroidal hemangiomas are benign hamartomatous disorders and are classified as circumscribed or diffuse. Circumscribed tumors occur sporadically, without any associated local or systemic anomalies. In contrast, a diffuse choroidal hemangioma is usually evident at birth and generally occurs as a part of neuro-oculo-cutaneous hemangiomatosis [Sturge-Weber syndrome]. Retinal vascular tumors include capillary hemangioma, cavernous hemangioma, arteriovenous communications [Wyburn-Mason syndrome], and vasoproliferative tumor. Each subtype has a characteristic clinical feature and an attempt should be made to differentiate them because of specific systemic associations, treatment, and prognosis associated with them