Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico.

BACKGROUND: Inherited retinal dystrophies are hereditary diseases which have in common the progressive degeneration of photoreceptors. They are a group of diseases with clinical, genetic, and allelic heterogeneity. There is limited information regarding the genetic landscape of inherited retinal diseases in Mexico, therefore, the present study was conducted in the northeast region of the country. METHODS: Patients with inherited retinal dystrophies were included. A complete history, full ophthalmological and medical genetics evaluations, and genetic analysis through a targeted NGS panel for inherited retinal dystrophies comprising at least 293 genes were undertaken. RESULTS: A total of 126 patients were included. Cases were solved in 74.6% of the study's population. Retinitis pigmentosa accounted for the most found inherited retinal disease. Ninety-nine causal variants were found, being USH2A and ABCA4 the most affected genes (26 and 15 cases, respectively). CONCLUSIONS: The present study documents the most prevalent causative genes in IRDs, as USH2A, in northeastern Mexico. This contrasts with previous reports of IRDs in other zones of the country. Further studies, targeting previously unstudied populations in Mexico are important to document the genetic background of inherited retinal dystrophies in the country.

Efficacy and safety of pop-titrated versus fixed-energy trans-scleral diode laser cyclophotocoagulation for refractory glaucoma.

PURPOSE: To compare the efficacy and safety of pop-titrated versus fixed-energy diode laser trans-scleral cyclophotocoagulation (DLTSC) for refractory glaucoma. METHODS: This is a prospective, interventional, longitudinal, and comparative case-control study. Patients with refractory glaucoma treated with pop-titrated DLTSC were compared to a fixed-energy DLTSC control group. Variables analyzed included: age, gender, diagnosis, pre- and post-treatment intraocular pressure (IOP). Success rate, anti-glaucoma medications reduction, and complications were analyzed at day 90 post-treatment. Primary success criterion consisted of eyes with a postoperative IOP ≤ 22 mmHg or a 30% reduction of pre-treatment IOP and managed with topical anti-glaucoma medications only. RESULTS: A total of 68 eyes from 67 patients were included for analysis: 30 in the pop-titrated group and 38 in the fixed-energy group. Therapeutic success was achieved in 56-72% of the pop-titrated group versus 47-52% in the fixed-energy group considering the 3 different criteria analyzed (p = 0.23-0.4). There was a 22% (from 4.1 to 3.2 drugs) reduction of anti-glaucoma medications in the pop-titrated group, compared to 32% (from 3.5 to 2.4 drugs) in the fixed-energy group (p = 0.42). Five eyes (13.1%) developed hypotony, all of which belonged to the fixed-energy group (p = 0.048). CONCLUSIONS: Pop-titrated DLTSC represents an effective and safe option for the management of refractory glaucoma. We found no statistically significant difference in success rates among both groups. However, there was a significantly higher risk of hypotony in eyes treated with the fixed-energy protocol.

Metastatic Papillary Thyroid Carcinoma Presenting as Abducens Palsy Complicated by Ocular Neuromyotonia.

Papillary thyroid carcinoma (PTC) is a type of well-differentiated thyroid cancer that accounts for the majority of thyroid malignancies. The prognosis of PTC is very good and distant metastases are rare, especially to the skull base. The authors report the case of a 47-year-old woman with biopsy-proven PTC treated with surgery and radiation therapy who presented with headache and diplopia after 5 years and was found to have clivus and cavernous sinus metastasis. Following radiation therapy for her skull base and cavernous sinus lesion, she subsequently developed sixth nerve ocular neuromyotonia. Possible causes and treatments are reviewed.

Suprasellar Primitive Neuroectodermal Tumor in an Adult.

Primitive neuroectodermal tumors (PNET) of the central nervous system (CNS) are a heterogeneous group of embryonal malignancies that are composed of undifferentiated or poorly differentiated neuroepithelial cells. Supratentorial PNET is the second most common CNS embryonal malignancy in children, but it is rare in adults. We report the case of a 31-year-old woman with bilateral vision loss and a bitemporal hemianopia. Neuroimaging revealed a suprasellar mass, and pathology was consistent with PNET. After surgical debulking of the tumor followed by radiation therapy and chemotherapy, the patient had significant visual recovery and remained stable over 14 months of follow-up.

Dermatomyositis-Related Nonischemic Central Retinal Vein Occlusion.

A 25-year-old woman with dermatomyositis suffered a right central retinal vein occlusion (CRVO) with visual acuity of 20/40. Examination of the right eye showed vitreous cells, suggesting inflammation of the central retinal vein leading to a CRVO as the presumed mechanism. She was admitted to hospital, and extensive evaluation was negative. She was maintained on corticosteroids to manage her dermatomyositis. One month later, she had macular edema and elevated intraocular pressure. Both resolved with dorzolamide, timolol, and intravitreal bevacizumab, and vision returned to 20/20 in the right eye.

Neuro-Behçet disease presenting with oculopalatal tremor.

A 39-year-old woman with a history of Behçet disease presented for evaluation of oscillopsia that began postpartum. Examination showed oculopalatal tremor (OPT), documented videographically. Brain magnetic resonance imaging revealed bilateral pseudohypertrophy of the inferior olivary nuclei. Treatment with gabapentin was initiated for OPT presumed secondary to neuro-Behçet disease.

Neuro-ophthalmic presentations and treatment of Cryptococcal meningitis-related increased intracranial pressure.

OBJECTIVE: To illustrate three different ophthalmic presentations of cryptococcal meningitis (CM). INTRODUCTION: CM is the most common manifestation of extra-pulmonary cryptococcosis. Intracranial hypertension occurs in up to 75% of patients with CM and is associated with increased mortality. CM can present to the ophthalmologist as vision loss, papilledema, abducens palsy, and/or other cranial neuropathies. PARTICIPANTS AND METHODS: We report three cases, two C. neoformans and one C. gattii, highlighting the various CM presentations. The first was a woman immunosuppressed following kidney transplantation in whom idiopathic intracranial hypertension (IIH) was initially suspected. The second was a man immunocompromised by previously undiagnosed HIV/AIDS who presented with signs and symptoms of increased intracranial pressure. The third case is an immunocompetent man with bilateral disc edema and an incomplete macular star diagnosed with presumed neuroretinitis. Further evaluation revealed positive CSF cryptococcal antigen with culture positive for C. gattii. CONCLUSIONS: Ophthalmologists should be aware that cryptococcosis can mimic more benign etiologies including IIH and neuroretinitis. Additionally, C. gattii, an emerging organism, can infect immunocompetent patients. In contrast to the typical treatment of increased ICP, serial lumbar punctures are recommended while acetazolamide and surgical CSF shunting may be harmful.

Anti-asialo-GM1 and GD1a variant of Miller Fisher variant of Guillain-Barré Syndrome.

We present a woman with acute onset of bilateral ophthalmoparesis and ataxia occurring 4 weeks after gastroenteritis. Serum antibody titers against asialo-GM1 and GD1a, typically associated with inflammatory axonal neuropathies, were elevated but titers against anti-GQ1b, the most commonly found antibody found in the Miller Fisher variant of Guillain-Barre syndrome were not. No other etiology for ophthalmoparesis was found despite extensive patient evaluation. Intravenous immunoglobulin was administered, and the patient gradually improved over subsequent months. This case is unique for its antiganglioside antibody profile associated with Miller Fisher syndrome.