Alport syndrome is a rare basement membrane disorder that may include ocular manifestations: dot-and-fleck retinopathy, anterior lenticonus, posterior polymorphous corneal dystrophy, or temporal macular thinning. It is primarily an X-linked inheritance condition (85%). This case report describes a 51-year-old male patient with Alport syndrome who was diagnosed due to ocular manifestations that were subsequently linked with a history of renal failure and bilateral sensorineural hearing loss. The diagnostic tools used were biomicroscopy, ultrasound, corneal topography, endothelial microscope analysis, macula optical coherence tomography, and fundus photography. Clear lens extraction was performed and improved his visual acuity. Further genetic analysis revealed a mutation in the COL4A5 gene on the X chromosome. Ocular manifestations can help determine the right diagnosis and help in multisystemic disease assessment. In cases of Alport syndrome, a nephrologist should be informed about the potential development of a specific antiglomerular basement membrane antibody that may lead to graft rejection. The patient's close relatives should also be examined.
Objectives:The aim of this study was to evaluate visual and refractive outcomes after Veriflex phakic intraocular lenses (pIOL) implantation in moderately myopic eyes as well as postoperative complications.Methods:This prospective clinical study included 40 eyes of 26 patients which underwent implantation of Veriflex for correction of myopia from -6.00 to -14.50 diopters (D) in the Eye Clinic Svjetlost Sarajevo, from January 2011 to January 2014. Uncorrected distance visual acuity (UDVA), manifest residual spherical equivalent (MRSE), intraocular pressure (IOP), endothelial cell (EC) density were evaluated at one, three, six and 12 months. Other complications in postoperative period were evaluated. For statistical analysis SPSS for Windows and Microsoft Excel were used.Results:Out of 26 patients 14 had binocular and 12 monocular procedure, with mean age of 29.8±6.5 years. After 12 months mean UDVA was 0.73±0.20. Mean MRSE was -0.39±0.31D and 90% of eyes had MRSE within ±1D. EC loss was 7.18±4.33%. There was no significant change of IOP by the end of 12 months follow up period. The only intraoperative complication was hyphema and occurred in one eye. Few postoperative complications were: subclinical inflammation in three eyes (7,5%), pigment dispersion in four eyes (10%), ovalisation of papilla in 2 eyes (5%) and decentration of pIOL in 2 eyes (5%).Conclusion:Implantation of iris-claw phakic lenses Veriflex for treating moderately high myopia is a procedure with good visual and refractive results and few postoperative complications.
Aim:
The aim of this case report was to report the clinical and genetic characteristics of choroideremia patient and a family member carrier.
Case report:
A comprehensive ophthalmologic examination, BCVA (best corrected visual acuity), fundus examination and photography, optical coherence tomography (OCT), OCT–angiography (OCTA), perimetry was conducted in choroideremia patient and a family member carrier. Clinical findings of choroidermia patient presented as significant atrophy of the choroid and retinal pigment epithelium (RPE) with the exception of a portion of preserved tissue in the macula. OCT showed foveal thickening with parafovoal RPE and fotoreceptor (FR) atrophy. OCTA revealed loss of choriocapillaris vasculature. Clinical diagnosis of CHM mutation was confirmed by multiplex ligation-dependent probe amplification assay (MLPA), followed by sequencing which revealed pathogen variance (c.1584_1587delTGTT). Clinical findings of carrier: small peripheral zones of atrophy and hyper pigmentation, without any symptoms or major visible changes on OCT or OCTA.
Conclusion:
Following new frontiers in gene therapy it is of curtail importance to diagnose patients correctly as well as confirm clinical diagnosis by genetic testing.
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