Aniridia is usually an autosomal dominant, rare disorder characterized by a variable degree of hypoplasia or the absence of iris tissue, with additional ocular abnormalities. Pathogenic variants in the PAX6 gene are associated with aniridia in most patients. However, in up to 30% of individuals, disease results from 11p13 chromosomal rearrangements. Here we present a patient with a clinical diagnosis of partial aniridia born to consanguineous Polish parents. The parents were asymptomatic and ophthalmologically normal. We performed PAX6 sequencing, array comparative genomic hybridization, quantitative real-time PCR, and whole genome sequencing. aCGH revealed a homozygous deletion of the DCDC1 gene fragment in the patient. The same, but heterozygous deletion, was detected in each of the patient's asymptomatic parents and brother. In the presented family, the signs and symptoms of aniridia are observed only in the homozygous proband. Whole genome sequencing analysis was performed to determine other possible causes of the disease and did not detect any additional or alternative potentially pathogenic variant. We report a novel homozygous deletion located in the 11p13 region, which does not include the PAX6 gene or any known PAX6 enhancers. To our best knowledge, this is the first reported case of a patient presented with isolated aniridia carrying a homozygous microdeletion downstream of the PAX6 gene.
Aniridia , Eye Proteins , Aniridia/diagnosis , Aniridia/genetics , Comparative Genomic Hybridization , Eye Proteins/genetics , Homeodomain Proteins/genetics , Homozygote , Humans , Male , PAX6 Transcription Factor/genetics , Pedigree , Sequence Deletion
PURPOSE: The purpose of this study was to evaluate retinal capillary blood flow in patients with exudative AMD. MATERIAL AND METHODS: Twenty patients with exudative AMD and twenty four patients age-matched control subjects, were included into the study. Retinal capillary blood flow was evaluated with Heidelberg Retinal Flowmeter (HRF), measurements were taken in two macular regions. The total mean flow and mean velocity were calculated usingthe technique of automatic full field perfusion image analysis (AFFPIA). The U Mann-Whitney test was used for statistical analysis. RESULTS: Patients with exudative AMD revealed slightly lower retinal blood flow than control subjects in area I and in area II. In the AMD group total mean flow values were: 295.75 AU/ 303.85 AU, while in the control group were: 302.37 AU/ 304.42 AU. The mean velocity values were: 1.48 AU/ 1.42 AU in AMD patients and: 1.49 AU/ 1.52 AU in control group. The differences did not reach the statistical significance. CONCLUSIONS: The study results showed no changes in retinal capillary blood flow in patients with exudative AMD comparing to normal subjects.
Macular Degeneration/diagnosis , Macular Degeneration/physiopathology , Retinal Artery/physiopathology , Blood Flow Velocity , Capillaries/physiopathology , Case-Control Studies , Evaluation Studies as Topic , Female , Humans , Male , Microcirculation/physiopathology , Regional Blood Flow , Retina/physiopathology
Pregnancy is often associated with ocular changes. Most of them are specifically associated with the pregnancy itself, rare disturb the normal visual function and are transient in nature. The ocular effects of pregnancy may be divided into physiologic changes, pathologic conditions or modifications of pre-existing conditions. Pregnancy is associated with changes in corneal sensitivity and thickness, decreased tolerance to contact lenses, decreased intraocular pressure, can affect refractive error. Pathologic conditions reported to develop during pregnancy include hypertensive and vascular disorders, central serous chorioretinopathy, uveal melanoma and others. The most significant modified pre-existing condition is diabetes mellitus. Pregnant women are at increased risk for the progression of preexisting proliferative diabetic retinopathy, and diabetic women should see an ophthalmologist before pregnancy or early in the first trimester. This review describes various ocular changes that occur during pregnancy and summarizes the ocular disturbances in these three categories.
Eye Diseases/complications , Pregnancy Complications/physiopathology , Adult , Diabetic Retinopathy/physiopathology , Female , Humans , Infant, Newborn , Pregnancy , Prenatal Diagnosis , Retinal Diseases/complications
PURPOSE: The purpose of this study was to evaluate retinal capillary blood flow in patients with nonexudative age-related macular degeneration. MATERIAL AND METHODS: Twenty five patients with nonexudative age-related macular degeneration and twenty five age-matched control subjects were enrolled into the study. Full ophthalmological examination and fluorescein angiography were performed. Retinal blood flow was evaluated with the Heidelberg Retina Flowmeter. Total mean flow and mean velocity were calculated using the technique of automatic full field perfusion image analysis RESULTS: Patients with nonexudative age-related macular degeneration revealed statistically significant lower retinal blood flow than control subjects. In AMD group total mean flow values were 266.89 / 272.21 AU, while in control group were: 1.498 / 1.509 AU. Mean velocity values were: 1.315 / 1.329 AU in AMD patients and: 1.498 / 1.509 AU in controls. CONCLUSIONS: The study results showed reduced capillary retinal blood flow in patients with age-related macular degeneration compared to normal subjects. This retinal microcirculation impairment suggests more generalized perfusion defect involving both, choroidal and retinal blood flow.
Macular Degeneration/diagnosis , Retinal Vessels/diagnostic imaging , Retinal Vessels/pathology , Blood Flow Velocity , Capillaries/diagnostic imaging , Capillaries/pathology , Case-Control Studies , Female , Fluorescein Angiography , Humans , Male , Radiography , Regional Blood Flow
PURPOSE: The purpose of this study was to define physiological changes in intraocular pressure during pregnancy. MATERIAL AND METHODS: 182 healthy pregnant women were examined cross-sectionally throughout the pregnancy. After measuring systolic and diastolic blood pressure full ophthalmological examination was performed (visual acuity, refractive error, intraocular pressure, slit lamp examination and fundus exam). All subjects were free from any systemic or ocular diseases. RESULTS: Intraocular pressure significantly decreased during successive stages of pregnancy. The results are presented as means SD. In the control group mean IOP was 15.6 +/- 1.81 mmHg. During first ten weeks of pregnancy mean IOP was 15.33 +/- 1.98 mmHg, between 11-20 hbd was 14.52 +/- 2.37 mmHg, between 21-30 hbd was 13.47 +/- 2.19 mmHg, and towards the end of pregnancy (31-40 hbd) was 12.5 +/- 1.96 mmHg. The mean fall of IOP during whole pregnancy was 3.1 +/- 0.38 mmHg (p < 0.001). In these subjects pregnancy decreased IOP by 19.8%. CONCLUSIONS: The study results showed a gradual, statistically significant fall of intraocular pressure during pregnancy.
Intraocular Pressure/physiology , Pregnancy/physiology , Adult , Case-Control Studies , Cross-Sectional Studies , Female , Humans
