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Late diagnosis of Alstrom syndrome in a Yemenite-Jewish child.

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We describe the ophthalmologic, clinical, and genetic findings in a patient of Yemenite-Jewish origin diagnosed with Alstrom syndrome due to a novel splice-site mutation 10 years after a clinical misdiagnosis of Leber congenital amaurosis.Ophthalmological

The relationship between intraocular pressure and refractive error adjusting for age and central corneal thickness.

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OBJECTIVE To investigate the relationship between intraocular pressure (IOP) and refractive errors after adjusting for age, central corneal thickness (CCT), and other related factors. METHODS IOP, CCT and refractive errors were measured in the right eyes of 1855 subjects, aged 40-82 years, in a

Sociodemographic, behavioral, and medical risk factors associated with visual impairment among older adults: a community-based pilot survey in Southern District of Hong Kong

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Background: The last visual survey of older adults in Hong Kong was a district-level study in 2002, with no assessment of behavioral and medical risk factors for visual impairment (VI). Our objectives were to determine the latest VI

Anterior cervical hypertrichosis and mental retardation.

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Anterior cervical hypertrichosis or hairy throat is a rare dysmorphic sign described in a total of 19 patients so far. The association with a number of additional features has been reported, including mental retardation. We report on another patient with this condition who also had moderate mental

C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium.

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OBJECTIVE We have noted a phenotype of early-onset retinal dystrophy with macular staphyloma but without high myopia. The aim of this study is to report the underlying genetic mutations and the subcellular localisation of the gene product in the retina. METHODS Retrospective case series (2012-2015);

Congenital ocular and other systemic abnormalities associated with ring-11 chromosome.

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The ocular and systemic abnormalities in a boy with ring chromosome 11 [46, XY/46, XY, r(11) (p 15.5----q25] are described. The ocular anomalies consisted of bilateral hypermetropia, microcornea, anterior chamber cleavage syndrome with prominent Wölfflin nodes, and cartwheel configuration of the

Retinoscopic measurement of the refractive state of the rat.

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Using retinoscopy, we measured the refractive state of 96 eyes of three different strains of rats: albino Sprague-Dawley, Royal College of Surgeons (RCS) with and without inherited retinal dystrophy, and lean and obese varieties of Zucker rats. Contrary to previous reports, we do not find consistent

Ocular evaluation and genetic test for an early Alström Syndrome diagnosis

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Purpose: We present 3 cases of Alström syndrome (ALMS) that highlight the importance of the ophthalmic exam, as well as the diagnostic challenges and management considerations of this ultra-rare disease.

[Age-related macular degeneration: analysis in two ophthalmological centers in Pernambuco-Brazil].
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OBJECTIVE To evaluate age-related macular degeneration (AMD) prevalence and its risk factors in two different populations, with distinct socioeconomic conditions, at two ophthalmological centers in Pernambuco state, Brazil. METHODS A cross-sectional study was performed in 200 volunteers aged 55

Risk Factors for Pterygium in Ilam Province, Iran.
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OBJECTIVE To evaluate the risk factors for pterygium in the dry, high altitude province of Ilam, Iran. METHODS The study included patients who presented to ophthalmology clinic. The patients were divided into two groups: 210 diagnosed with pterygium or pinguecula (unilateral or bilateral), and 210

Beyond Hyperglycemia, Evidence for Retinal Neurodegeneration in Metabolic Syndrome.
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We evaluated the retinal effects of systemic metabolic changes clustered under the umbrella of metabolic syndrome (MetS) in comparison with age-matched healthy subjects. Spectral-domain optical coherence tomography (OCT) retinal segmentation analysis of 29 patients with MetS and 36 control subjects

Long-term health effects of early life exposure to tetrachloroethylene (PCE)-contaminated drinking water: a retrospective cohort study.
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BACKGROUND While adult exposure to PCE is known to have toxic effects, there is little information on the long-term impact of prenatal and early childhood exposure. We undertook a retrospective cohort study to examine the effects of their early life exposure to PCE-contaminated drinking water. This

Genetic factors associated with the development of age-related macular degeneration.
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Age-related macular degeneration (AMD) affects the macula and is the leading cause of significant and irreversible central visual loss. It is the most common cause of visual loss in people aged more than 60 years. This disease affects 2.5 million individuals in Europe. AMD is caused by both

Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings.
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A description of the clinical features of Majewski osteodysplastic primordial dwarfism type II (MOPD II) is presented based on 58 affected individuals (27 from the literature and 31 previously unreported cases). The remarkable features of MOPD II are: severe intrauterine growth retardation (IUGR),

A hypothesis for treating inflammation and oxidative stress with hydrogen sulfide during age-related macular degeneration.
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Age-related macular degeneration (AMD) is a leading cause of blindness and is becoming a global crisis since affected people will increase to 288 million by 2040. Genetics, age, diabetes, gender, obesity, hypertension, race, hyperopia, iris-color, smoking, sun-light and pyroptosis have varying roles

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