Atypical fundoscopic manifestation with good visual prognosis in familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

PURPOSE: Pathogenic variants in the CLDN19 gene are responsible for Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis (FHHNC) with ocular pathology (MIM *248190). Our objective was to delineate the ophthalmological and genetic manifestations of a patient with FHHNC and a pathogenic variant in CLDN19. CASE REPORT: A 25-year-old woman presented with renal involvement and a best-corrected visual acuity of 20/25 in the right eye and finger-counting ability in the left eye. The patient exhibited high myopia, convergent strabismus, and chorioretinal atrophic plaques in the perifoveal and peripapillary areas. We conducted a comprehensive ophthalmological examination, including refraction, fundoscopy, color and autofluorescence retinography, optical coherence tomography, and electrophysiology tests. Additionally, next-generation sequencing was performed using Illumina NextSeq500. We identified a homozygous missense variant, c.59G>A p.Gly20Asp, in the CLDN19 gene as the cause of renal and ocular manifestations. CONCLUSION: FHHNC is associated with various ocular alterations. The unique retinal disorders described in this article suggest a more favorable visual prognosis compared to those previously reported in the literature. Determining the phenotypic diversity of this disease may aid in the diagnosis and management of future cases.

Importance of ocular electrophysiology in the diagnosis of retinal dystrophies. / Importancia de la electrofisiología ocular en el diagnóstico de las distrofias retinianas.

BACKGROUND AND OBJECTIVE: The diagnosis of retinal dystrophies is complex and is based on complete ophthalmological study, genetic study and electrophysiological studies (EPS). In this study, we intend to evaluate the role of electrophysiological and medical tests in the diagnosis of retinal dystrophies. MATERIAL AND METHODS: A retrospective observational study was conducted on 50 selected patients that attended the Neurophysiology Department of the University Hospital Virgen Macarena. An analysis was made of the variables that included, gender, age, referral hospital, reason for which the EPS was requested, applied EPS, genetic study, presumed diagnosis, and definitive diagnosis after EPS. A classification system was subsequently developed, which gives each case a value between 0 and 2, depending on the contribution of the electrophysiological tests to the final diagnosis. RESULTS: The mean age was 44.34 ±18.03 years (60% women). Retinitis pigmentosa (24%), optic neuropathy (12%), and Stargardt's disease (8%) were the most frequent diagnoses. The EPS modified the presumed diagnosis in 48% of the cases, confirmed the diagnosis in 44%, and did not provide any useful information in 8%. The contribution of the EPS was greater in patients seen in the HUVM and when requested by findings in the examination (P=.001). The false positives in the diagnosis of retinal dystrophy were 60% in patients not evaluated by the University Hospital Virgen Macarena. CONCLUSIONS: Electrophysiological test and specialised management of patients with retinal dystrophies play an important role in the diagnosis of these conditions.

Macular choroidal thickness in non-arteritic ischemic optic neuropathy. / Grosor coroideo macular en la neuropatía óptica isquémica anterior no arterítica.

OBJECTIVE: To analyse macular choroidal thickness (MCT) in non-arteritic ischaemic optic neuropathy (NAION). MATERIALS AND METHODS: An analysis was made on 22 patients diagnosed with NAION (22 eyes) and 42 healthy controls (42 eyes) using enhanced-depth imaging of spectral-domain optical coherence tomography. A horizontal raster scan centred on the fovea was obtained per eye 3 months after the onset of NAION. Three measurements of MCT were obtained from the posterior edge of the retinal pigment epithelium to the choroid-sclera junction at 500µm intervals. Statistical analysis was used to compare the mean MCT and to correlate MCT with other ocular and systemic parameters. RESULTS: Except for refractive error (P=.01), there were no statistically significant differences between both groups in axial length (P=.53), age (P=.88) and other epidemiological and ocular parameters. Mean MCT in NAION eyes and control group was 236.21±63.29µm and 269.13±52.28, respectively. Mean MCT was significantly thinner in NAION eyes than in healthy eyes (P=.03). Thinner MCT, adjusted for refractive error, was associated with the diagnosis of NAION (P=.04). CONCLUSIONS: Eyes affected by NAION showed significantly thinner MCT compared with healthy control eyes after adjusting for refractive error.

Relationship between paravascular abnormalities and foveoschisis in highly myopic patients.

PURPOSE: To describe the prevalence of paravascular abnormalities in highly myopic patients and its relationship with myopic foveoschisis (MF). METHODS: Cross-sectional study of 250 highly myopic eyes. All of the patients underwent a complete ophthalmologic examination that included optical coherence tomography . RESULTS: Optical coherence tomography images showed 170 eyes (68%) with paravascular microfolds (PM), 121 eyes (48.4%) presented paravascular retinal cysts (PC), and 35 eyes (14%) with paravascular lamellar holes . All the eyes with PCs had PMs. Out of the 250 eyes, 48 (19.2%) had paravascular retinoschisis (PR). All the eyes (100%) with PR had paravascular cysts and PMs. Sixteen eyes (6.4%) had foveoschis. The spherical equivalent (P<0.00), PR (P=0.01), and the presence of tractional structures (P<0.00) were associated with increased risk for foveoschsis in the multivariate study. CONCLUSIONS: PMs were the lesions most often observed in the paravascular area in highly myopic eyes. MF would be a result of the action of different forces (intra- and extra-ocular forces), specially tractional structures, on precursor lesions (paravascular cyst and paravascular restinoschisis). Further studies are needed to confirm these results.

[Von Hippel-Lindau disease: family study]. / Enfermedad de Von Hippel Lindau: estudio familiar.

CASE REPORT: The case of 5 members of a family who suffer from Von Hippel-Lindau disease (VHL) is presented. It is shown that retinal capillary hemangioma was the main ophthalmic symptom, with hemovitreous and tractional retinal detachment as the main complications. DISCUSSION: VHL disease is rare, but very serious, even fatal, thus it is important to obtain an early diagnosis by ophthalmoscopy, in order to change the visual prognosis and life expectancy, not only for the patient, but also for the family.

[Use of optical coherence tomography to study variations of normal parameters with age]. / Estudio de parámetros de normalidad en relación a la edad con el tomógrafo óptico de coherencia.

PURPOSE: To determine by Optical Coherence Tomography (OCT) the variation of a variety of measurable parameters (macular thickness, retinal parapapillary fiber layer thickness and optic disc morphology) with age. METHOD: We carried out OCT in 40 normal subjects (80 eyes) aged between 20 and 60 years, divided into 4 groups according to the age decades. RESULTS: Statistically significant differences were found in the macular thickness in the comparative study groups but the differences varied according to the sector assessed; the superior outer sector (p=0.00), temporal outer sector (p=0.01), temporal inner sector (p=0.04), nasal inner sector (p=0.03) and inferior inner sector (p=0.00). In the study of retinal parapapillary fiber layer thickness, statistically significant differences were found between groups in the inferior sector only (p=0.04). No statistically significant differences were found between groups in the study of optic disc morphology. CONCLUSIONS: Both the macular thickness and the nerve fiber layer in the inferior sector decrease with age. These differences in thickness are statistically significant between the extremes of age decades.

[Retinal pigment epithelial atrophic tracks secondary to central serous pigment epitheliopathy]. / Epiteliopatía en reguero.

PURPOSE AND METHODS: We report the cases of three patients with retinal pigment epithelial atrophic tracks secondary to central serous pigment epitheliopathy specially focusing on fluorescein angiographic findings. This entity is considered an atipical manifestation of central serous chorioretinopathy called chronic diffuse retinal pigment epitheliopathy. RESULTS AND CONCLUSIONS: We have studied 69 patients with the diagnose of central serous pigment epiteliopathy in our unit; 10.14% manifested diffuse retinal pigment epitheliopathy and 5.79% showed retinal pigment epithelial atrophic tracks. Both eyes were involved in 100% and all of them were males with a median age of 53.33 years. We can conclude that this entity usually affects adult males and it is frequently bilateral.

[Study of subretinal neovascular membranes secondary to degenerative myopia]. / Estudio de membranas neovasculares subretinianas secundarias a miopía degenerativa.

PURPOSE: To study the type, size, location and posterior time evolution of the subretinal neovascular membranes (SRNM) secondary to degenerative myopia (DM) and its relationship with the degree of myopic ametropia. METHODS: We studied 65 patients (130 eyes) with MD who were divided into three groups according to their refraction. A complete ophthalmologic examination, including a fluorescein angiography (FAG), was performed for all the patients. Based on this test, 55 SRNA were identified, and were classified into two types according to the fluorescein angiography results. Their position was described in relationship to the foveal avascular zone (FAZ) and their size was measured. RESULTS: 55 (42.3%) of the 130 eyes presented SRNM, which was bilateral in 16.32% of the patients. Based on the FAG criteria, 41 eyes (74.54%) presented type 1 SRNM, 60% (33 eyes) presented subfoveal membranes and the size was greater than 1,500 microns in more than 75%. The development of the SRNM showed no relationship with the myopic ametropia degree (P<0.2500). The follow-up time was 24.61+/-7.63. CONCLUSIONS: No relationship between the appearance of the development of the SRNM and the myopia degree has been found. These are generally small sized, have poor dye diffusion and are frequently located in the foveal zone. The visual acuity loss is often sudden and maintained over time.