Ocular hypertension in Axenfeld-Rieger Syndrome.

Purpose: to describe a clinical case of ocular hypertension (OHT) in Axenfeld-Rieger Syndrome (ARS). Method: Observational case report of a 43-year-old woman with background of OHT. The data was collected originally with a standardized electronic medical record. A complete ophthalmologic examination was performed. Results: In the biomicroscopy, a posterior embryotoxon, iris atrophy with absence of crypts and irregularity of pigmentation, and discoria in OU were observed. Gonioscopy revealed an open angle with a prominent and anterior displaced Schwalbe line. Ocular fundus (OF) demonstrated small and oblique papillae, with normal neurorretinal ring. Functional tests were normal. The patient did not present systemic pathologies, so the diagnosis of Rieger anomaly was made. The IOP control was achieved with aqueous humor suppressants. Conclusions: Glaucoma is the main cause of visual morbidity in patients with ARS, therefore a complete periodic ophthalmological exam is a priority. Abbreviations :ARS = Axenfeld-Rieger Syndrome, RP = retinitis pigmentosa, IOP = Intraocular Pressure, BCVA = Best Corrected Visual Acuity, OR = right eye, OS = left eye, OU = both eyes, OF = ocular fundus, OCT = optical coherence tomography, VF = visual field, TBC = trabeculectomy.

Surgical management of complicated inflammatory glaucoma.

Case report: We report a case of a 26-year-old woman with a previous history of complicated ulcerative colitis, as well as multiple episodes of recurrent anterior uveitis in control with adalimumab and methotrexate, who develops ocular hypertension refractory to topical treatment. The implant of an EXPRESS® is proposed, but in the immediate post-operative period, the implant causes atalamia and does not achieve the correct control of intraocular pressure. A XEN® stent was implanted. Due to failure, it was decided to remove the stent and to release a subconjunctival fibrosis that had formed at the subconjunctival portion of the XEN®, in association with coating by an Ologen® collagen matrix, which led to an improvement of the results. Conclusions: The surgical management of inflammatory glaucoma is complex in young patients with a scar component. The new minimally invasive techniques are effective in cases refractory to topical treatment, whose characteristics prevent the use of conventional ones.

A multimodal study and management of retinitis punctata albescens.

Purpose: To study disease progression and visual function in a patient with retinitis punctata albescens (RPA). Method: Observational case report. The retinaldehyde-binding protein 1 gene (RLBP1) was analyzed by direct genomic sequencing. A complete ophthalmologic examination was performed. Results: Mutations in the RLBP1 gene were identified in the patient. The patient's fundus (OF) showed numerous white dots with diffuse retinal mottling. Her visual function deteriorated progressively during the follow-up. Optical coherence tomography (OCT) demonstrated bilateral cystic macular edema that worsened if the patient stopped dorzolamide topical therapy. Conclusions: The multimodal study is useful in the characterization of retinal dystrophies, in association with neurophysiological tests. Degenerative changes of the outer retina were detected by OCT. Abbreviations: RPA = Retinitis punctata albescens, RP = retinitis pigmentosa, IOP = Intraocular Pressure, BCVA = Best Corrected Visual Acuity, OD = right eye, OS = left eye, OU = both eyes, BMC = biomicroscopy, AF = autofluorescence, OF = ocular fundus, ERG = electroretinogram, OCT = optical coherence tomography, VF = visual field, VEP = visual evoked potentials, CME = cystic macular edema, MD = mean deviation, RLBP1 = retinaldehyde-binding protein 1.

Enfermedad de Vogt-Koyanagi-Harada: estudio de 14 casos / Vogt-Koyanagi-Harada disease: study of 14 cases

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