The Roma population is the largest transnational ethnic minority group in Europe, often facing socioeconomic inequalities and various health problems. In the present study, we investigated visual ...acuity and its influencing factors along with spectacle use of the Roma population in comparison with the general population in Hungary. A cross-sectional survey was carried out including 832 participants aged 20-64 years. We recorded the uncorrected visual acuity along with anthropometric, demographic, socioeconomic and health-related data of each individual. Although the average uncorrected visual acuity was somewhat higher, the use of a visual aid was significantly less frequent in the Roma population, especially in the group with a visual acuity below 0.5 in both eyes (14.3% vs. 77.1%, p < 0.001). Age, abdominal obesity and disturbances of carbohydrate metabolism had a negative impact on visual acuity in both populations; however, the latter was a much stronger risk factor in the Roma population (OR 5.789, 95% CI 2.239-14.964, p < 0.001) than in the general population (OR 2.075, 95% CI 1.097-3.926, p = 0.025). Our results show serious unmet health needs within the Roma population, which calls for public health programs to improve poor primary care indicators on regular eye examination and much more rigorous diabetes control.
Our purpose was to prospectively analyze the age-related changes of corneal Scheimpflug parameters in healthy subjects. Thirty-five eyes of 35 volunteers (age 14-67 years) were investigated with an ...average interval of 3.6 years. Changes of corneal parameters (flattest keratometric reading at anterior (K1F) and posterior surface (K1B), steepest keratometric reading at anterior (K2F) and posterior surface, anterior astigmatism, posterior astigmatism (AstigB), flat axis of anterior and posterior astigmatism (AxisB), thinnest pachymetric value (PachyMin), corneal volume (CV10-mm)) were analyzed. K1F and K2F decreased significantly during observation and showed stronger decrease in younger than in older individuals. Higher values proved to be more stable. K1B decreased significantly and the degree of decrease was dependent on its baseline value and age: in young subjects low values increased, high values decreased. AstigB decreased significantly and showed a baseline-dependent significant increase from lower and a significant decrease from higher initial values. Over time, the mean AxisB shifted significantly. PachyMin and CV decreased significantly with age, especially from higher baseline values in younger subjects. The results of this longitudinal study suggest that both corneal surfaces change significantly with age. We demonstrate for the first time that age and baseline values influence age-related changes of corneal parameters.
Here, we report a patient with oculodentodigital dysplasia (ODDD) caused by the c. 413G>A, p.Gly138Asp mutation in the gap junction protein alpha-1 gene. The patient suffered from characteristic ...dysmorphic features of ODDD. Ophthalmological investigation disclosed microcornea and a shallow anterior chamber, as expected. Surprisingly, the patient had a normal axial length and moderate myopia on both eyes. To the best of our knowledge, this is the first report on ODDD associated with relative anterior microphthalmos and myopia.
AIM: To examine the occurrence of commonly known clinical signs of keratoconus(KC), i.e. Fleischer ring,prominent corneal nerves and thinning, among unaffected family members of KC patients and ...healthy control individuals.·METHODS: Data of both eyes of 117 relatives of KC patients having no manifest disease based on videokeratography indices(KC relatives), and 142 controls were used for Pearson correlation and t-test statistics. Correlation of Fleischer ring, prominent corneal nerves and central pachymetry data were tested with each other and with videokeratography indices(KSI,KISA, 3 and 6 mm Fourier asymmetry, and I-S).·RESULTS: A moderate correlation was found between Fleischer ring and all examined topographical indices.Most important correlation was present with 6 mm Fourier asymmetry, and corneal pachymetry(r =0.272, P <0.001; r=-0.234, P =0.027, respectively). Similar correlations were found with prominent corneal nerves(r =0.234, P <0.001 for 6 mm Fourier asymmetry and r =-0.235, P =0.0265 for pachymetry). KC family members who exhibited Fleischer ring or prominent nerves had thinner and more asymmetric corneas than those without Fleischer ring or prominent corneal nerves(P <0.05 for pachymetry and topographic indices with t-test and Mann-Whitney rank sum test). Though rarely, Fleischer ring and prominent corneal nerves occurred among normal controls, indicating the existence of forme fruste cases in the normal population. Control subjects, who had corneal Fleischer ring or prominent nerves had corneas more similar to KC than other controls(t-test:increased KSI and KISA, P =0.048 and 0.012,respectively).·CONCLUSION: In KC family members and healthy individuals, Fleischer ring and prominent corneal nervesare associated with features of KC and may suggest a possibility of forme fruste KC. Searching for the possible presence of Fleischer ring or prominent nerves on the cornea may help in the decision whether or not to diagnose subclinical KC in a borderline case.
In this study, we present a case of a 58-year-old male patient with oculocutaneous albinism, keratoconus, total cataract, and glaucoma originating from father-daughter incest. He underwent ...femtosecond laser-assisted keratoplasty with "open-sky" cataract extraction and posterior chamber intraocular lens implantation. One week after surgery his uncorrected visual acuity improved from hand motion to 20/200. Six months later corneal K values were 49.1 D in the flat and 50.0 D in the steep meridian. The graft had a central corneal thickness of 488 µm and was well fitted. The patient's quality of life improved substantially due to the surgery. To the best of our knowledge, this is the first report on the association of albinism with advanced keratoconus, total cataract, and glaucoma. Moreover, no previous report on femtosecond laser-assisted keratoplasty using VisuMax femtosecond laser system with "open-sky" cataract extraction is available in the literature. The VisuMax femtosecond laser-assisted keratoplasty ensures fast patient rehabilitation in such challenging cases.
Age-related macular degeneration (AMD) is the leading cause of blindness in the elderly in the developed world. Numerous genetic factors contribute to the development of the multifactorial disease. ...We performed a case-control study to assess the risk conferred by known and candidate genetic polymorphisms on the development of AMD. We searched for genetic interactions and for differences in dry and wet AMD etiology. We enrolled 213 patients with exudative, 67 patients with dry AMD and 106 age and ethnically matched controls. Altogether 12 polymorphisms in Apolipoprotein E, complement factor H, complement factor I, complement component 3, blood coagulation factor XIII, HTRA1, LOC387715, Gas6 and MerTK genes were tested. No association was found between either the exudative or the dry form and the polymorphisms in the Apolipoprotein E, complement factor I, FXIII and MerTK genes. Gas6 c.834+7G>A polymorphism was found to be significantly protective irrespective of other genotypes, reducing the odds of wet type AMD by a half (OR = 0.50, 95%CI: 0.26-0.97, p = 0.04). Multiple regression models revealed an interesting genetic interaction in the dry AMD subgroup. In the absence of C3 risk allele, mutant genotypes of both CFH and HTRA1 behaved as strongly significant risk factors (OR = 7.96, 95%CI: 2.39 = 26.50, p = 0.0007, and OR = 36.02, 95%CI: 3.30-393.02, p = 0.0033, respectively), but reduced to neutrality otherwise. The risk allele of C3 was observed to carry a significant risk in the simultaneous absence of homozygous CFH and HTRA1 polymorphisms only, in which case it was associated with a near-five-fold relative increase in the odds of dry type AMD (OR = 4.93, 95%CI: 1.98-12.25, p = 0.0006). Our results suggest a protective role of Gas6 c.834+7G>A polymorphism in exudative AMD development. In addition, novel genetic interactions were revealed between CFH, HTRA1 and C3 polymorphisms that might contribute to the pathogenesis of dry AMD.
Von Hippel-Lindau disease is an autosomal dominantly inherited highly penetrant tumor syndrome predisposing to retinal and central nervous system hemangioblastomas, renal cell carcinoma and ...phaeochromocytoma among other less frequent complications.
Molecular genetic testing of the VHL gene was performed in five unrelated families affetced with type I VHL disease, including seven patients and their available family members.
Molecular genetic investigations detected three novel (c.163 G > T, c.232A > T and c.555C > A causing p.Glu55X, p.Asn78Tyr and p.Tyr185X protein changes, respectively) and two previously described (c.340 + 1 G > A and c.583C > T, resulting in p.Gly114AspfsX6 and p.195GlnX protein changes, respectively) germline point mutations in the VHL gene. Molecular modeling of the VHL-ElonginC-HIF-1alpha complex predicted that the p.Asn78Tyr amino acid exchange remarkably alters the 77-83 loop structure of VHL protein and destabilizes the VHL-HIF-1alpha complex suggesting that the mutation causes type I phenotype and has high risk to associate to renal cell carcinoma. The novel p.55X nonsense mutation associated to bilateral RCC and retinal angioma in a 15-year-old male patient.
We describe the earliest onset renal cell carcinoma in VHL disease reported so far in a 15-year-old boy with a nonsense VHL mutation. Individual tailoring of screening schedule based on molecular genetic status should be considered in order to diagnose serious complications as early as possible. Our observations add to the understanding of genotype-phenotype correlation in VHL disease and can be useful for genetic counseling and follow-up of VHL patients.
In the platelets of a type II Glanzmann thrombasthenia patient, the amount of glycoprotein (GP) IIb and IIIa was significantly reduced. Three novel mutations were identified in the GPIIb gene ...(c.440C->G/p.Leu116Val, c.1772_1773insG/p.Asp560GlyfsX16 and c.2438C->A/p.His782Asn). p.Leu116Val did not represent a causative mutation. The c.1772_1773insG mutation resulted in an early stop codon and non-sense mediated decay of mRNA. When expressed in transfected BHK cells, the truncated protein was unable to form complex with GPIIIa. The p.His782Asn mutation compromised transport of the pro-GPIIb/IIIa complex from the endoplasmic reticulum to the Golgi, hindering its maturation and surface expression.
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