X-linked juvenile retinoschisis associated with an RS1 in-frame deletion and bilateral central serous chorioretinopathy.

PURPOSE: To report the case of a patient with X-linked juvenile retinoschisis (XLRS), caused by an in-frame deletion of the RS1 gene, who presented visual loss due to bilateral central serous chorioretinopathy (CSC).Methods: Observational case report. RESULTS: A 34-year-old man, with type-A personality, presented with a one-month history of decreased visual acuity and metamorphopsia in his right eye. Funduscopic examination showed a dome-like foveal elevation in both eyes (OU), as well as subtle pigmentary changes of the retinal pigment epithelium with a tapetal reflex in the fovea. Spectral-domain optical coherence tomography revealed intraretinal cystic foveal changes and serous retinal detachment in OU. Fundus fluorescein angiography of OU showed a focal area of intense hyperfluorescence with leakage in late phases. Electroretinogram revealed a markedly attenuated b-wave and a diminished a-wave in photopic and scotopic phases. Genetic testing revealed a hemizygous c.282_284delCTT deletion in the RS1 gene, predicting a p.Ser95del change at the protein level. The patient was diagnosed with XLRS and central serous chorioretinopathy as a coexisting condition. Patient was observed during a 3-month period but showed no improvement. Therefore, subthreshold micropulse laser was applied, achieving complete resolution of signs and symptoms of CSC. CONCLUSION: CSC can be a cause of acute or subacute visual loss in patients with XLRS when other complications such as vitreous hemorrhage and retinal detachment have been excluded.

Primary Cancer Sites and Clinical Features of Choroidal Metastasis in Mexican Patients.

PURPOSE: To describe the primary cancer sites and clinical features of choroidal metastasis in Mexican patients. METHODS: This was a retrospective, observational, and multi-center study. Data were recollected from 6 ophthalmological hospitals in Mexico from patients with choroidal metastasis diagnosed from 2000 to 2018. RESULTS: Seventy-eight patients were studied: 43 were female and 35 were male. Mean age at presentation was 57.6 years. Overall, primary cancer sites were: 1) breast: 27 cases (34.6%); 2) lung: 19 cases (24.3%); 3) unknown: 8 cases (10.2%); 4) gastrointestinal: 7 cases (8.9%); 5) renal: 5 cases (6.4%); 6) testicular: 3 cases (3.8%); 7) ovary: 3 Cases (3.8%); 8) prostate: 2 cases (2.5%); 9) thyroid: 2 cases (2.5%); 10) carcinoid: 1 case (1.2%); and 11) multiple myeloma: 1 case (1.2%). Divided by gender, for women, the main three sites were: breast, unknown, and ovary. For men, the main three sites were: lung, gastrointestinal, and testicular. Oldest cases were breast cancer (87 and 85 years); youngest cases were testicular (23 and 25 years). Solitary lesions were observed in 56 cases (71.7%); multiple lesions were observed in 22 cases (28.2%). Forty-two cases had a white or yellowish color, while 6 cases presented an orange color. CONCLUSION: Primary cancer sites and clinical features of choroidal metastasis in Mexican patients show important differences from other populations previously studied, mainly the presence of a higher proportion of gastrointestinal and renal cancer, as well as higher incidence of ovarian and testicular cancer. These types of cancer, although not as common as breast or lung, need to be taken into account when studying Mexican patients living abroad.

Indocyanine green angiography for identifying telangiectatic capillaries in diabetic macular oedema.

AIMS: During diabetic macular oedema (DME), a spectrum of capillary abnormalities is commonly observed, ranging from microaneurysms to large microvascular abnormalities. Clinical evidence suggests that targeted photocoagulation of large microvascular abnormalities may be beneficial, but their detection is not done in a routine fashion. It was reported that they are better identified by indocyanine green angiography (ICGA) than by fluorescein angiography. Here, we investigated the prevalence and ICGA and optical coherence tomography (OCT) features of retinal microvascular abnormalities in a group of patients with DME. METHODS: Observational study. The fundus photographs, ICGA and structural and angiographic OCT charts of 35 eyes from 25 consecutive patients with DME were reviewed. RESULTS: 22 eyes (63%) had at least one focal area of microvascular abnormalities showing prolonged indocyanine green (ICG) staining (ie, beyond 10 mins after injection). In particular, all eyes (n=9) with circinate hard exudates showed foci of late ICG staining. These areas were either isolated globular capillary ecstasies or a cluster of ill-defined capillary abnormalities. They were located at a median distance of 2708 µm from the fovea (range: 1064-4583 µm). Their diameter ranged from 153 to 307 µm. During ICGA, 91% showed increased their contrast and apparent size in late frames, whereas 79% of microaneurysms showed reduced contrast on late frames. OCT angiography was not contributive for the detection of these lesions. CONCLUSION: Late ICG staining revealing large microvascular abnormalities is commonly observed during DME. Because of their specific angiographic and OCT features relative to microaneurysms, we propose to name them telangiectatic capillaries (TelCaps).

Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.

BACKGROUND: Retinal dystrophies (RDs) are one of the most genetically heterogeneous monogenic disorders with ~270 associated loci identified by early 2019. The recent application of next-generation sequencing (NGS) has greatly improved the molecular diagnosis of RD patients. Genetic characterization of RD cohorts from different ethnic groups is justified, as it would improve the knowledge of molecular basis of the disease. Here, we present the results of genetic analysis in a large cohort of 143 unrelated Mexican subjects with a variety of RDs. METHODS: A targeted NGS approach covering 199 RD genes was employed for molecular screening of 143 unrelated patients. In addition to probands, 258 relatives were genotyped by Sanger sequencing for familial segregation of pathogenic variants. RESULTS: A solving rate of 66% (95/143) was achieved, with evidence of extensive loci (44 genes) and allelic (110 pathogenic variants) heterogeneity. Forty-eight percent of the identified pathogenic variants were novel while ABCA4, CRB1, USH2A, and RPE65 carried the greatest number of alterations. Novel deleterious variants in IDH3B and ARL6 were identified, supporting their involvement in RD. Familial segregation of causal variants allowed the recognition of 124 autosomal or X-linked carriers. CONCLUSION: Our results illustrate the utility of NGS for genetic diagnosis of RDs of different populations for a better knowledge of the mutational landscape associated with the disease.