Sunila Jain

Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus

Idiopathic congenital nystagmus is characterized by involuntary, periodic, predominantly horizontal oscillations of both eyes. We identified 22 mutations in FRMD7 in 26 families with X-linked idiopathic congenital nystagmus. Screening of 42 singleton cases of idiopathic congenital nystagmus (28 male, 14 females) yielded three mutations (7%). We found restricted expression of FRMD7 in human embryonic brain and developing neural retina, suggesting a specific role in the control of eye movement and gaze stability.

The Prevalence of Nystagmus: The Leicestershire Nystagmus Survey

PURPOSE Nystagmus, which can be infantile (congenital) or acquired, affects all ages. The prevalence of nystagmus in the general population is unknown. New genetic research and therapeutic modalities are emerging. Previous estimates have been based on wider ophthalmic epidemiologic studies within specific occupational or age groups. The authors carried out the first epidemiologic study to specifically establish the prevalence of nystagmus in Leicestershire and Rutland in the United Kingdom. METHODS Three independent data sources identified persons with nystagmus from the hospital and community. The first was a hospital-based questionnaire and clinical survey (n = 238). The visually impaired services (n = 414) and education services (n = 193) in Leicestershire provided the second and third separately obtained community-based sources of information. Capture-recapture statistical analysis was used to estimate prevalence. RESULTS The prevalence of nystagmus in the general population was estimated to be 24.0 per 10,000 population (95% confidence interval [CI], +/-5.3). The most common forms of nystagmus were neurologic nystagmus (6.8 per 10,000 population; 95% CI, +/-4.6), nystagmus associated with low vision such as congenital cataracts (4.2 per 10,000; 95% CI, +/-1.2), and nystagmus associated with retinal diseases such as achromatopsia (3.4 per 10,000 population; 95% CI, +/-2.1). Within ethnic groups, nystagmus was significantly more common in the white European population than in the Asian (Indian, Pakistani, other Asian backgrounds) population (P = 0.004). CONCLUSIONS The findings suggest that nystagmus is more common in the general population than previously thought. This may be of significance in resource allocation and health care planning.

Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.

Idiopathic congenital nystagmus is characterized by involuntary, periodic, predominantly horizontal oscillations of both eyes. We identified 22 mutations in FRMD7 in 26 families with X-linked idiopathic congenital nystagmus. Screening of 42 singleton cases of idiopathic congenital nystagmus (28 male, 14 females) yielded three mutations (7%). We found restricted expression of FRMD7 in human embryonic brain and developing neural retina, suggesting a specific role in the control of eye movement and gaze stability.

Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7

Idiopathic infantile nystagmus (IIN) consists of involuntary oscillations of the eyes. The familial form is most commonly X-linked. We recently found mutations in a novel gene FRMD7 (Xq26.2), which provided an opportunity to investigate a genetically defined and homogeneous group of patients with nystagmus. We compared clinical features and eye movement recordings of 90 subjects with mutation in the gene (FRMD7 group) to 48 subjects without mutations but with clinical IIN (non-FRMD7 group). Fifty-eight female obligate carriers of the mutation were also investigated. The median visual acuity (VA) was 0.2 logMAR (Snellen equivalent 6/9) in both groups and most patients had good stereopsis. The prevalence of strabismus was also similar (FRMD7: 7.8%, non-FRMD7: 10%). The presence of anomalous head posture (AHP) was significantly higher in the non-FRMD7 group (P < 0.0001). The amplitude of nystagmus was more strongly dependent on the direction of gaze in the FRMD7 group being lower at primary position (P < 0.0001), compared to non-FRMD7 group (P = 0.83). Pendular nystagmus waveforms were also more frequent in the FRMD7 group (P = 0.003). Fifty-three percent of the obligate female carriers of an FRMD7 mutation were clinically affected. The VAs in affected females were slightly better compared to affected males (P = 0.014). Subnormal optokinetic responses were found in a subgroup of obligate unaffected carriers, which may be interpreted as a sub-clinical manifestation. FRMD7 is a major cause of X-linked IIN. Most clinical and eye movement characteristics were similar in the FRMD7 group and non-FRMD7 group with most patients having good VA and stereopsis and low incidence of strabismus. Fewer patients in the FRMD7 group had AHPs, their amplitude of nystagmus being lower in primary position. Our findings are helpful in the clinical identification of IIN and genetic counselling of nystagmus patients.

Impact of Colour Blindness on Recognition of Haematuria in Bladder Cancer Patients

Objective: Colour blindness might lead to failure in recognizing frank haematuria. Our aim is to investigate as to whether colour-blind males who develop bladder cancer present later with less favourable histology. Patients and Methods: Two hundred male patients with bladder cancer were assessed using Ishihara plate test for colour deficiency. Degree of haematuria, method of presentation and initial histologic findings were also determined. Results: Colour-blind patients who develop bladder cancer present with less favourable histology compared with non-colour-blind (p = 0.01). Conclusion: Colour blindness was associated with presentation with more advanced bladder tumours.

Unusual case of coexistent pulmonary cryptococcosis and tuberculosis in an immuno-competent host

Coexistence of pulmonary cryptococcosis with other infections has commonly been described in immuno-suppressed individuals. In immuno-competent hosts, such coexistence is rare and mostly described in disseminated disease or uncommonly involving different sites. The simultaneous coinfection of cryptococcosis and tuberculosis of lung in an immuno-competent host is extremely rare with only one previously reported case in the literature. This is the second such case and the first to be reported in India. We describe a case of a 36-year-old immuno-competent male who presented with haemoptysis and cough. Computed tomography showed a sub-pleural lung nodule. Diagnostic thoracoscopic wedge resection of the right lung nodule revealed granulomatous inflammation with cryptococcus on histopathology. Coexistent tuberculosis was diagnosed by microbiological culture study on lung tissue. The patient responded clinically to fluconazole and anti-tubercular therapy. This case shows that although rare, coexistent infections can occur in immuno-competent persons and highlights the importance of careful evaluation and tissue microbiological culture examination.

Delayed progression of bull’s eye maculopathy

Chloroquine-induced maculopathy may progress years after drug cessation and an apparent period of visual stability. Both doctor and patients should be fully aware of the risks of retinal toxicity, including delayed onset and progression. It is therefore crucial that regular monitoring continues in affected patients, long after the initial diagnosis of maculopathy.

Abdominal lymphadenopathy: An interesting and rare case diagnosed on endoscopic ultrasound-guided fine needle aspiration cytology.

A 68-year-old woman presented to a gastroenterologist with abdominal pain, loss of appetite, and significant weight loss for last 5–6 months. Her history revealed that she had been having recurrent episodes of abdominal pain for last 15 years with postprandial distension and vomiting. She had taken two courses of anti-tubercular therapy (ATT) in the past. These were probably given empirically as no tissue diagnosis was available. She had been investigated extensively in another hospital for her present complaints; however, no diagnosis could be made. Computed tomography scan done outside revealed multiple calcified and noncalcified lymph nodes in the axilla, chest, and abdomen, and healed calcified foci in liver and spleen. There were fibro-calcified lesions in bilateral upper lobes of the lung. There was also mild ascites and bilateral pleural effusions. Physical examination revealed pallor, pedal edema, basal crepitation, and hepatomegaly. She had albuminuria, and 24 h urinary protein levels were raised. Her echocardiography revealed mild pulmonary arterial hypertension. She underwent endoscopic ultrasound-guided fine needle aspiration (EUS-FNA) of the abdominal lymph nodes with a clinical suspicion of tuberculosis. The EUS-FNA was performed using 22 G needle from the peri-pancreatic lymph nodes [Figures ​[Figures11 and ​and22].

Can We Reduce Neuroimaging in Ophthalmology

The use of computed tomographic (CT) and magnetic resonance imaging (MRI) scans is becoming increasingly commonplace in ophthalmic practice.1 The relative ease of ordering and the valuable anatomical information that scans provide make them a very useful tool.2 However, this comes at a cost both in terms of radiation dose to patients (in the case of CT) and financial cost to the National Health Service. In ophthalmology, little work has been done in assessing the appropriateness of ophthalmic neuroimaging: the most recent study we found was conducted nearly 8 years ago.1,3 We aimed to look at a sample of the current practice in diagnostic neuroimaging in a District General Hospital (DGH) with the aim of assessing appropriateness of requests and where possible suggesting changes to improve the accuracy of those requests. We performed a retrospective case-note analysis of diagnostic neuroimaging at the Royal Preston Hospital between June 2008 and December 2008. Details of ophthalmology requests were obtained from the Radiology Department and 62 consecutive CT/ MRI scans were examined. After identifying patients who underwent neuroimaging, the case notes were retrieved and the clinical indications and outcomes of the imaging were recorded. Appropriateness was determined, at the time of the case note review, by a combination of the reason for request and the criteria suggested by Lee et al.4 In total 23,773 patients attended the eye unit during the study period. Two hundred fifty-one CT or MRI scans were ordered, of which 62 were evaluated in our study. The main reason for requesting neuroimaging was suspected visual pathway lesion due to visual field defects (28/62; 45%). Other indications included suspected papilloedema (11/62; 18%), orbital pathology (8/62; 13%), suspected optic neuritis (4/62; 6%), ocular motility disorders (7/62; 11%) and miscellaneous (4/62; 6%). In total 8/62 (13%) of scans were deemed inappropriate, of which 6/62 (10%) were due to suspected visual pathway lesion. CT and MRI scans in ophthalmology are becoming increasingly commonplace and 1.05% of our patients underwent neuroimaging during the study period. This is higher than the most recent similar study, which reported that 0.30% of patients underwent neuroimaging.1 In our study, most of the scans were deemed appropriate (87%), which reflects similar previous studies (91% and 88%).1,3 Suspected visual pathway lesion remains the most common reason for requesting scans, which confirms previous reports (45%).1 Most of these were deemed appropriate but three scans were ordered for a single non-neurological visual field deficit without any other indication. Such situations do not require imaging. Also in this group, three scans were ordered for patients with advanced normal tension glaucoma (NTG). From the notes NTG was the most likely diagnosis and there was no indication that these patients required neuroimaging. We feel that our sample is representative of other DGHs in England and we propose that the majority of our inappropriate scans could have been avoided had we developed more specific criteria when ordering scans for suspected visual pathway lesion. Such criteria that we suggest include

Design and development of micro pulse lidar for cloud and aerosol studies

A micro pulse lidar (MPL) has been indigenously designed and developed at the National Physical Laboratory, New Delhi using a 532 nm, 500 pico second pulsed laser having average power of 50mW (at 7.5 KHz PRR). Photon counting technique has been incorporated using the conventional optics, multichannel scaler (Stanford Research Systems SR430) and high sensitive photomultiplier tube. The sensitivity, range and bin etc are computer controlled in the present system. The interfacing between MPL and computer has been achieved by serial (RS232) and parallel printer port. The necessary software and graphical user interface has been developed using visual basic. In addition to this the telescope cover status sensing circuit has been incorporated to avoid conflict between dark count and background acquisition. The micro pulse lidar will be used for the aerosol, boundary layer and the cloud studies at a bin resolution of 6 meters. In the present communication the details of the system and preliminary results will be presented.