Down syndrome in diverse populations.

Down syndrome is the most common cause of cognitive impairment and presents clinically with universally recognizable signs and symptoms. In this study, we focus on exam findings and digital facial analysis technology in individuals with Down syndrome in diverse populations. Photos and clinical information were collected on 65 individuals from 13 countries, 56.9% were male and the average age was 6.6 years (range 1 month to 26 years; SD = 6.6 years). Subjective findings showed that clinical features were different across ethnicities (Africans, Asians, and Latin Americans), including brachycephaly, ear anomalies, clinodactyly, sandal gap, and abundant neck skin, which were all significantly less frequent in Africans (P < 0.001, P < 0.001, P < 0.001, P < 0.05, and P < 0.05, respectively). Evaluation using a digital facial analysis technology of a larger diverse cohort of newborns to adults (n = 129 cases; n = 132 controls) was able to diagnose Down syndrome with a sensitivity of 0.961, specificity of 0.924, and accuracy of 0.943. Only the angles at medial canthus and ala of the nose were common significant findings amongst different ethnicities (Caucasians, Africans, and Asians) when compared to ethnically matched controls. The Asian group had the least number of significant digital facial biometrics at 4, compared to Caucasians at 8 and Africans at 7. In conclusion, this study displays the wide variety of findings across different geographic populations in Down syndrome and demonstrates the accuracy and promise of digital facial analysis technology in the diagnosis of Down syndrome internationally. © 2016 Wiley Periodicals, Inc.

Changing Clinical Presentation, Current Knowledge-Attitude-Practice, and Current Vision Related Quality of Life in Self-Reported Type 2 Diabetes Patients with Retinopathy in Eastern India: The LVPEI Eye and Diabetes Study.

Purpose. To document the changing clinical presentation of diabetic retinopathy (DR) over a decade, the current knowledge-attitude-practice (KAP) of known type 2 diabetes mellitus (DM) patients, and the current vision related quality of life (VR-QOL) of patients with DR in a tertiary eye care center in Eastern India. Methods. Two hundred and forty patients with known type-2 DM were evaluated. The evaluation included status of DR (n = 240), KAP (n = 232), and VR-QOL (n = 75). International classification of DR was used in the study. The DR status was compared with another cohort (n = 472) examined a decade earlier, in year 2001. The KAP-25 questions were designed after literature review. The National Eye Institute Visual Function Questionnaire (NEI-VFQ; including optional items) was validated by Rasch analysis. Both KAP and VR-QOL were analyzed according to degree of DR, duration of known DM, and educational qualification. Results. Average age of the current cohort (n = 240) was 57.16 ± 9.03 years; there were 205 (85.4%) male patients and 143 (59.6%) patients had received less than graduate qualification. The mean duration of DM since diagnosis was 10 ± 7.8 months (range 8 months to 30 years); 118 (49.16%) patients had DR. In a decade time, 2001 to 2011, there was a change of retinopathy status at presentation (more often nonproliferative diabetic retinopathy, NPDR). One-third of NPDR patients had poor vision and half of them were hypertensive. KAP was better in patients with higher education and those having DR. VFQ score was higher in better seeing patients. Conclusion. Patients currently presenting at earlier stage of retinopathy are probably related to poor vision. Early detection and treatment of DR is likely to preserve and/or improve vision.

Etiology and clinical profile of childhood optic nerve atrophy at a tertiary eye care center in South India.

BACKGROUND: Optic nerve atrophy is an important ophthalmological sign that may be associated with serious systemic conditions having a significant bearing on the overall morbidity of the child. Studies specific to etiology of childhood optic atrophy are scarce, this being the first such study from India to the best of our knowledge. AIM: The aim was to analyze the clinical features and etiology of diagnosed cases of optic nerve atrophy in children <16 years of age. MATERIALS AND METHODS: Retrospective review of records of children diagnosed with optic nerve atrophy between the ages of 0 and 16 years from 2006 to 2011. RESULTS: A total of 324 children (583 eyes) were identified. Among these 160 (49%) presented with defective vision, 71 (22%) with strabismus, 18 (6%) with only nystagmus. Rest had a combination of two or three of the above symptoms. Sixty-five patients (20%) had a unilateral affection. Hypoxic ischemic encephalopathy seen in 133 patients (41%) was the most frequent cause of childhood optic atrophy, followed by idiopathic in 98 (30%), hydrocephalus in 24 (7%), compressive etiology in 18 (5%), infective in 19 (6%), congenital in 6 (2%), inflammatory in 5 (2%) patients, respectively. CONCLUSION: Hypoxic ischemic encephalopathy appears to be the most common cause of optic atrophy in children in this series. The most common presenting complaint was defective vision.

The efficacy of corneal debridement in the treatment of microsporidial keratoconjunctivitis: a prospective randomized clinical trial.

PURPOSE: To evaluate the efficacy of corneal debridement in the treatment of clinically diagnosed cases of microsporidial keratoconjunctivitis. DESIGN: Prospective, double-masked randomized clinical trial. METHODS: Patients with clinical features such as multifocal, coarse, raised, punctate, round to oval epithelial lesions in the cornea in slit-lamp examination with mild to moderate conjunctival congestion, suggestive of microsporidial superficial keratoconjunctivitis, were included in the prospective study. All patients were randomized into 2 groups. Group 1 patients underwent debridement with the help of a sterile #15 blade on a Bard-Parker handle, whereas only conjunctival swabs were taken from Group 2 patients. All patients were treated with ocular lubricants. RESULTS: One hundred and twenty patients with clinical features suggestive of microsporidial superficial keratoconjunctivitis were included in the study. The mean age was 34.3 ± 13.6 years (Group 1) and 35.8 ± 16.2 years (Group 2) (P = .59). The mean duration of symptoms was 6.8 ± 3.9 days (Group 1) and 7.2 ± 4.6 days (Group 2) (P = .61). Baseline characteristics showed no difference between the 2 groups. The primary outcome was the time from the presentation to complete resolution (ie, absence of corneal lesions) of the clinical signs and symptoms. The secondary outcomes were final visual acuity and residual corneal side effects and/or scarring, if any. The mean resolution time of the corneal lesions was 5.7 ± 4.0 days (Group 1) and 5.9 ± 3.9 days (Group 2) (P = .83). There was no significant difference in final visual outcome in the 2 groups. No serious side effects were observed. CONCLUSION: Debridement does not have any significant advantage in terms of resolution of the corneal lesions and final visual outcome in cases of microsporidial keratoconjunctivitis.

Purtscher's retinopathy in pre-eclampsia: a blinding combination.

Blindness in pregnancy can occur due to cortical infarcts, retinal vascular occlusions and retinal detachment. Purtscher's retinopathy is a rare entity causing visual loss during pregnancy and has so far been reported in association with complicated labor. We report here on a case of Purtscher's retinopathy leading to bilateral blindness in a pre-eclamptic multigravida after an uncomplicated spontaneous delivery. The patient had no visual recovery after 3 months postpartum. Poorly controlled pregnancy-induced hypertension coupled with the hypercoagulable state of pregnancy probably led to a compromised optic nerve microvasculature and loss of retinal autoregulation. Subsequently the acute event of parturition triggered a complement-mediated leucocyte embolization to this already compromised microvasculature resulting in Purtscher's retinopathy.

Dual infection by streptococcus and atypical mycobacteria following Ahmed glaucoma valve surgery.

PURPOSE: To report a case of late postoperative endophthalmitis caused by Streptococcus pneumoniae and conjunctival necrosis by Streptococcus pneumoniae and Mycobacterium fortuitum following Ahmed glaucoma valve (AGV) surgery in a young patient. METHODS: Case report of a 13-year-old boy with purulent exudates and extensive conjunctival necrosis two months following amniotic membrane graft and conjunctival closure (for conjunctival retraction post AGV for secondary glaucoma). RESULTS: The conjunctiva showed extensive necrosis causing exposure of the tube and plate associated with frank exudates in the area adjoining the plate and anterior chamber mandating explantation of the plate along with intravitreal antibiotics. The vitreous aspirate grew Streptococcus pneumoniae while Streptococcus pneumoniae with Mycobacterium fortuitum was isolated from the explanted plate. Despite adequate control of infection following surgery, the final visual outcome was poor owing to disc pallor. CONCLUSION: Conjunctival necrosis and retraction post-AGV can cause late postoperative co-infections by fulminant and slow-growing organisms. A close follow-up is therefore essential in these cases to prevent sight-threatening complications.

Ring infiltrate in staphylococcal keratitis.

Smear and culture tests of corneal scrapings from a patient with a ring infiltrate confirmed significant growth of a Staphylococcus species resistant to fluoroquinolones. Because of nonresponse to medical management, the patient underwent therapeutic penetrating keratoplasty. Staphylococcal infection of the cornea may appear as a ring-like infiltrate that is recalcitrant to medical management.