Current perspectives in Bietti crystalline dystrophy.

Bietti crystalline dystrophy (BCD) is a rare-inherited disease caused by mutations in the CYP4V2 gene and characterized by the presence of multiple shimmering yellow-white deposits in the posterior pole of the retina in association with atrophy of the retinal pigment epithelium (RPE) and chorioretinal atrophy. The additional presence of glittering dots located at the corneal limbus is also a frequent finding. The CYP4V2 protein belongs to the cytochrome P450 subfamily 4 and is mainly expressed in the retina and the RPE and less expressed in the cornea. The disease has its metabolic origin in the diminished transformation of fatty acid substrates into n-3 polyunsaturated fatty acids due to a dysregulation of the lipid metabolism. In this review, we provide updated insights on clinical and molecular characteristics of BCD including underlying mechanisms of BCD, genetic diagnosis, progress in the identification of causative genetic and epigenetic factors, available techniques of exploration and development of novel therapies. This information will help clinicians to improve accuracy of BCD diagnosis, providing the patient reliable information regarding prognosis and clinical prediction of the disease course.

Impact of Swept Source optical coherence tomography in patients with photoreceptor dystrophies. / Utilidad de la tomografía de coherencia óptica Swept Source en pacientes con distrofias de fotorreceptores.

The use of optical coherence tomography to diagnose conditions that predominantly affect the photoreceptor layer is postulated as a technique that allows to evaluate the relationship between retinal changes and loss of visual acuity. Two clinical cases are presented on patients with a bilateral decrease of their visual acuity and alteration in chromatic perception. Optical coherence tomography revealed subfoveal focal hypo-reflective defects on the hyper-reflective band (known as the ellipsoid zone).

Leukaemic infiltration and cytomegalovirus retinitis in a patient with acute T-cell lymphoblastic leukaemia in complete remission. / Infiltración leucémica y retinitis por citomegalovirus en paciente con leucemia linfoblástica aguda tipo T en remisión completa.

CLINICAL CASE: A 43-year-old woman in remission from T- cell acute lymphoblastic leukaemia was referred to our hospital with suspected leukaemic retinitis. The funduscopic examination of her left eye revealed multifocal yellow-white peripheral retinitis and retinal haemorrhage. The patient was treated for cytomegalovirus retinitis after an extended haematological investigation showed no abnormalities. Initial improvement was followed by papillitis in the left eye and motility restriction in the right eye. Magnetic resonance and lumbar puncture confirmed leukaemia relapse. Specific treatment was initiated with complete resolution. DISCUSSION: Ocular involvement may precede haematological leukaemia relapse. Physicians should be alerted when ocular symptoms appear in these cases.

[An orbital metastasis as the presentation of lung adenocarcinoma]. / Metástasis orbitaria como primera manifestación de adenocarcinoma pulmonar.

INTRODUCTION: Metastasis of primary tumours can involve the orbit via the blood stream. In 19% of cases this type of metastasis is the first oncologic symptom. CASE REPORT: A 42-year-old woman with a hard, well-defined nodule situated anteriorly in the right orbit and with mild associated inflammation. MR showed an oval image with homogeneous gadolinium uptake. On excision-biopsy a ductal cancer was found and determined on CAT scan to be of pulmonary origin. Chemotherapy was given and no recurrence occurred in the orbit. CONCLUSION: Ophthalmologic examination was the first step in the diagnosis of a metastasis of adenocarcinoma of the lung.