Clinical features of retinal diseases masquerading as retrobulbar optic neuritis / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Managements of optic neuritis (ON) included high-dose corticosteroids or combined with systemic immunomodulatory agents. It was important to make a correct diagnosis of ON before initiation of treatment. The purpose of the study was to report and analyze the clinical features of retinal diseases in patients who were misdiagnosed as having retrobulbar ON.</p><p><b>METHODS</b>Retrospective review of 26 patients (38 eyes) initially diagnosed with retrobulbar ON but were ultimately diagnosed with retinal or macular diseases. Data obtained from fundus examination, fluorescence fundus angiography (FFA), automated static perimetry, full-field electroretinogram (ffERG), multifocal electroretinogram (mfERG), and optical coherence tomography (OCT) were evaluated.</p><p><b>RESULTS</b>Thirty-eight eyes of 26 patients were found to have misdiagnosis of retrobulbar ON, based on normal or slight abnormal fundus findings and abnormal visual evoked potentials (VEP). The mean age of the patients was 34 years and the correct diagnosis of the patients included acute zonal occult outer retinopathy (AZOOR, 15 eyes, 14 patients), occult macular dystrophy (OMD, 8 eyes, 4 patients), cone or cone-rod dystrophy (10 eyes, 5 patients), acute macular neuroretinopathy (AMNR, 3 eyes, 2 patients), and cancer-associated retinopathy (CAR, 2 eyes, 1 patient).</p><p><b>CONCLUSION</b>When attempting to diagnose retrobulbar ON in clinical practice, it is crucial to carry out necessary examinations of the retinal function and morphology to decrease misdiagnosis.</p>

Genotyping and CA4 gene analysis in a Chinese family with retinitis pigmentosa / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To illuminate pathogenic gene and mutation in a Chinese family with autosomal dominant retinitis pigmentosa (adRP).</p><p><b>METHODS</b>Genetic linkage analysis was performed on the known genetic loci for adRP with a panel of polymorphic markers, and then all exons including exon-intron boundary, 5oUTR and 3oUTR of the candidate gene were sequenced directly.</p><p><b>RESULTS</b>Two-point LOD scores were negative with all markers tested except D17S701 (Zmax=2.107, theta=0) and D17S1604 (Zmax=1.806, theta=0). The disease gene locus was confined to RP17 with further genetic linkage and haplotype analysis. Screening all exons including exon-intron boundary, 5oUTR and 3oUTR of carbonic anhydrase 4 (CA4) revealed no mutation in this family.</p><p><b>CONCLUSION</b>The disease-causing gene of one Chinese family with adRP was first mapped to RP17, however no gene mutation of CA4 was detected in this family. Maybe there is a complex CA4 gene mutation in this family or a new disease-causing gene for this family in this locus, further study need to be done.</p>