Evidence of Germline Mosaicism for a Novel BCOR Mutation in Two Indian Sisters with Oculo-Facio-Cardio-Dental Syndrome.

In this study, we report on 2 sisters from India with oculo-facio-cardio-dental (OFCD) syndrome caused by a novel heterozygous mutation c.3490C>T (p.R1164*) in the BCOR gene. OFCD syndrome is an X-linked inherited disorder which is lethal in males. Interestingly, both parents of the sisters were phenotypically normal, and DNA analysis from blood and buccal or saliva cells failed to detect the BCOR mutation found in their 2 daughters. To the best of our knowledge, for the first time, we provide indirect evidence of germline mosaicism for the BCOR mutation in one of the parents of the 2 sisters affected by OFCD syndrome. Although this condition is lethal in males, gonadal mosaicism could also be present in the father. The relevance of clinical diagnosis and mutation analysis required for genetic counseling is described in this family.

Increasing compliance with protective eyewear to reduce ocular injuries in stone-quarry workers in Tamil Nadu, India: a pragmatic, cluster randomised trial of a single education session versus an enhanced education package delivered over six months.

OBJECTIVE: To evaluate the efficacy of standard education versus enhanced education in increasing compliance with protective eyewear to prevent ocular injuries in stone-quarry workers. DESIGN: Pragmatic, allocation concealed, participant and outcome assessor blinded, cluster randomised trial. SETTING: Six stone-quarries around Vellore, Tamil Nadu, South India. PARTICIPANTS: 204 consenting adult stone quarry workers. INTERVENTIONS: Protective eyewear plus enhanced education (one education session, plus 11 sessions of group education, individual discussions, and educational plays over six months) versus protective eyewear plus standard education (one education session and 5 follow up visits). OUTCOMES: The primary outcomes were observer-rated compliance with protective eyewear and reduction in incidence of ocular injuries (slit-lamp examination by an observer blinded to allocation status) at three and six months. Analysis was by intention to treat. RESULTS: Quarries and participants were similar at enrolment. All quarries; 92/103 (90%) of workers in three quarries given enhanced intervention, and 91/101 workers (89%) in three quarries given standard education, completed six months follow up. Compared to standard education, enhanced education significantly increased compliance with protective eyewear by 16% (95% CI 3-28%) at three months (OR 2.1; 95% CI 1.2-3.8); and by 25% (95% CI 11-35%) at six months (OR 2.7; 95% CI 1.5-4.8). Protective eyewear and enhanced education reduced the incidence of eye injuries at three months by 16% (95% CI 7-24%); and standard education by 13% (95% CI 4-22%), compared to the three months before interventions. The cumulative reduction over baseline in eye injuries at the six months was greater with enhanced education (12% decrease; 95% CI 3-21%) than with standard education (7% decrease; 95% CI 17% decrease to 3% increase). However, this incidence did not differ significantly between intervention arms at three months (OR 0.7% 95% CI 0.3-2.1); and at six months (OR 0.8; 95% CI 0.4-1.5). CONCLUSION: Provision of appropriate protective eyewear reduces the incidence of eye injuries in stone-quarry workers. Periodic educational and motivational sessions with individuals and groups facilitates sustained use of protective eyewear.

Primary conjunctival tuberculosis in a 14 year old girl.

Tuberculosis is a common disease in India. However, tuberculosis primarily affecting the conjuctiva is a rare entity. We report a 14-year-old girl who presented with unilateral eye discharge, watering, redness and itching for two weeks. Giant papillae were present on the upper tarsal conjunctiva. A provisional diagnosis of allergic conjunctivitis was made. Topical therapy with 1% Prednisolone acetate and 2% Sodium cromoglycate was commenced. The patient returned six months later with no improvement in the symptoms. The tarsal conjunctiva had a polypoidal, velvety appearance with giant papillae. A fibrinous membrane was seen over the tarsal conjunctiva and a preauricular node was found. Excision biopsy and histopathologic examination revealed necrotizing granulomatous inflammation suggestive of tuberculosis. Systemic examination and investigations were normal. She was started on anti-tuberculous therapy. In two months she showed complete resolution of symptoms and marked reduction in papillae and conjunctival thickening. Symptoms and signs of unilateral conjunctivitis may masquerade as primary conjunctival tuberculosis. In an endemic country like India, laterality, chronicity and non-resolution of symptoms with steroids are indications for pursuing a biopsy earlier than later. In our patient, the histopathology clinched the diagnosis of conjunctival tuberculosis resulting in a faster and complete resolution of the disease condition.

Oculocutaneous anthrax: detection and treatment.

Anthrax, a zoonotic disease that primarily affects herbivores, has received recent attention as a potential agent of bioterrorism. We report a patient who presented with a 4-day history of pain, watering and difficulty in opening the left upper and lower eyelids, and fever. Clinical examination revealed brawny nonpitting edema with serosanguinous discharge. The history of the death of his sheep 1 week prior to the illness provided the clue to the diagnosis. Although standard cultures of the blood and the serous fluid from the lesion were negative, probably as a result of prior treatment, the diagnosis of cutaneous anthrax was made by a polymerase chain reaction (PCR) test of the serous fluid. Serial photographs demonstrating resolution of the lesion with appropriate antibiotic therapy are presented.

Missed diagnosis of a wooden intra-orbital foreign body.

Intraorbital foreign bodies often present a confusing clinical picture. Wooden foreign bodies are notorious for remaining quiescent for a long time, before presenting with a variety of complications. The wound of entry may often be small and self-sealing. Wooden foreign bodies also show a propensity to break during attempted removal. Intraorbital wood is often not detected by standard diagnostic tests like the computed tomography scan, adding to the diagnostic dilemma. The presence of an intraorbital mass with a discharging sinus should evoke suspicion of a retained organic foreign body, regardless of the time interval between the trauma and current presentation. It is imperative to maintain a high index of suspicion in such cases to avoid misdiagnosis. We report an unusual case of a missed wooden intraorbital foreign body, which spontaneously extruded after five years.

The clinical profile of children in India with pigmentary anomalies along the lines of Blaschko and central nervous system manifestations.

The aim of this study was to describe the clinical profile of children with congenital pigmentary anomalies along Blaschko lines and the associated manifestations in the central nervous system. Twenty-six children aged 12 years or less (14 boys and 12 girls), with hypopigmentation and hyperpigmentation along Blaschko lines and central nervous system manifestations were included during the period June 2001 to December 2003. Detailed physical, cutaneous, and systemic examinations were carried out. Relevant investigations included histopathology, karyotyping, electroencephalogram, computerized tomography scans, and magnetic resonance imaging of the brain whenever possible. Twenty children had hyperpigmentation along the lines of Blaschko, four had hypopigmentation, and two had a combination of the two. Eight children had diffuse involvement. Of these, two each had hypomelanosis of Ito, incontinentia pigmenti and linear and whorled nevoid hypermelanosis. The remaining 20 patients could not be categorized as any of the described entities. The majority (92.3%) of patients manifested skin and central nervous system disorders before the age of 2 years. Hyperpigmentation along Blaschko lines was significantly higher in patients with central nervous system manifestations (p = 0.01). Developmental delay was the most frequent central nervous system presentation. Multiple systems were affected, including the eyes. Histology was useful to distinguish incontinentia pigmenti from other types of nevoid hyperpigmentation.

Impaired contrast sensitivity among leprosy patients with normal visual acuity.

Contrast sensitivity is a person's ability to identify an object from its background. Patients with normal visual acuity can have reduced contrast sensitivity and may experience trouble in identifying objects at night or moving around in dimly lit places. Contrast sensitivity has never been studied in leprosy patients having normal visual acuity. This study aimed to determine if contrast sensitivity is impaired in leprosy patients who have normal visual acuity and to identify possible associations with demographic, leprosy and ocular characteristics. A hospital based study measuring and comparing contrast sensitivity using the VCT 6500 chart in 127 consecutive leprosy patients without clinically apparent ocular complications and 123 non-leprosy controls was done. Contrast sensitivity was impaired in leprosy patients in all five spatial frequencies (1.5, 3.0, 6.0, 12 and 18 cycles/degree) investigated. Among leprosy patients, contrast sensitivity falling outside the normative range was associated with increasing age (adjusted OR 1.28, 95% CI: 1.14-1.42), being female (adjusted OR 11.05, 95% CI: 2.93-41.69) and having a grade 2 deformity (adjusted OR 6.43, 95% CI:1.68-24.61). Contrast sensitivity is impaired in leprosy patients having normal visual acuity. Elderly, deformed, female patients are particularly burdened with this vision loss.