Nasopharyngeal carcinoma (NPC) in the ophthalmic practice: A serious neoplasm presenting initially to ophthalmologists.

PURPOSE: Nasopharyngeal carcinoma (NPC) is an aggressive malignant tumor that arises from the nasopharyngeal epithelial lining. Most patients with NPC present with a neck mass or cranial nerve palsy. It is infrequent for patients with NPC to present to an ophthalmologist initially with ophthalmic complaints and absence of prior diagnosis of NPC. We are reporting a series of six NPC cases that presented solely with ophthalmic complaints, to attract the attention of ophthalmologist to such a serious neoplasm. METHODS: A retrospective observational study of all consecutive patients diagnosed with NPC based on their initial ophthalmic presentation with no prior diagnosis of this neoplasm. Patients presented for the first time to two tertiary eye hospitals. Data were collected by the chart review for demographics, clinical presentation, radiological imaging, treatment regimen, and follow-up. Histopathological review of their tissue specimens was conducted by two pathologists. RESULTS: We had six patients who presented for the first time to our ophthalmic service complaining mostly of limitation of extraocular muscle motility with or without diplopia (4/6), orbital or facial pain (2/6), and disturbance in vision (2/6). The age ranged from 35 to 92 years with a mean of 58 years. A male predominance was observed with male-to-female ratio of 5:1. The cases are described along with their imaging and histopathological findings. Relevant literature review was also presented. Most of our patients (5/6) received combination of radiotherapy and chemotherapy. One patient refused treatment and 2 eventually passed away after 7 months. CONCLUSION: Ophthalmologists may play a major role in diagnosing such patients accurately and referring them for early management and better prognosis.

Congenital stationary night blindness: an update and review of the disease spectrum in Saudi Arabia.

Congenital stationary night blindness (CSNB) is a group of rare, mainly stationary disorders of the retina, resulting from dysfunction of several specific and essential visual processing mechanisms. The inheritance is often recessive and as such, CSNB may be more common among populations with a high degree of consanguinity. Here, we present a topic update and a review of the clinical and molecular genetic spectrum of CSNB in Saudi Arabia. Since a major review article on CSNB in 2015, which described 17 genes underlying CSNB, an additional four genes have been incriminated in autosomal recessive CSNB: RIMS2, GNB3, GUCY2D and ABCA4. These have been associated with syndromic cone-rod synaptic disease, ON bipolar cell dysfunction with reduced cone sensitivity, CSNB with dysfunction of the phototransduction (Riggs type) and CSNB with cone-rod dystrophy, respectively. In Saudi Arabia, a total of 24 patients with CSNB were identified, using a combination of literature search and retrospective study of previously unpublished cases. Recessive mutations in TRPM1 and CABP4 accounted for the majority of cases (5 and 13 for each gene, respectively). These genes were associated with complete (cCSNB) and incomplete (icCSNB), respectively, and were associated with high myopia in the former and hyperopia in the latter. Four novel mutations were identified. For the first time, we describe the fundus albipunctatus in two patients from Saudi Arabia, caused by recessive mutation in RDH5 and RPE65, where the former in addition featured findings compatible with cone dystrophy. No cases were identified with any dominantly inherited CSNB.

The Prevalence of Thyroid Papillary Microcarcinoma in Patients With Benign Thyroid Fine Needle Aspiration.

Introduction Thyroid nodules are a very common clinical finding in the general population. We use fine needle aspiration (FNA) as the gold standard workup test for a thyroid nodule, as it is capable of differentiating malignant nodules from benign in the majority of cases. Usually, FNA is done for nodules that are more than 1 cm; small malignant lesions that are less than 1 cm in size can be missed. That's why the risk of having undiagnosed microcarcinomas in an otherwise benign FNA needs to be explored. Aim To estimate the prevalence of thyroid papillary microcarcinoma in patients with benign FNA and evaluate and correlate the FNA cytological results with the final histopathological diagnoses. Methods This was a retrospective study of 1543 post-thyroidectomy patients who underwent FNA cytology, were classified according to the Bethesda scoring system, and were admitted to two tertiary care hospitals in Riyadh, Saudi Arabia, from 2010 to 2019. Results Six-hundred-seven (607) out of 1543 FNA cytology results were reported as benign, 215 as malignant, and 73 as suspicious of malignancy. On final histopathology diagnosis, 81/607 (13.34%) of benign cases and 35/215 (16.28%) of malignant cases did not meet the initial cytology and were confirmed as papillary microcarcinoma. In patients with microcarcinoma after initial benign FNA (89.2%) found to have benign multinodular changes, compared to only (31%) of initial malignant FNA patients. Conclusion  When non-surgical intervention is chosen in patients with benign FNA, the possibility of coexisting microcarcinoma with its variable prognosis should be taken into account and explained to the patient.