Yen-Ching Lin

Systemic lupus erythematosus-associated optic neuritis: clinical experience and literature review.

Purpose:  This study aimed to evaluate the visual outcome of optic neuritis in patients with systemic lupus erythematosus (SLE).

Low Conversion Rate to Multiple Sclerosis in Idiopathic Optic Neuritis Patients in Taiwan

PurposeTo investigate the clinical characteristics of patients with idiopathic optic neuritis (ON) in Taiwan and to assess the conversion rate to multiple sclerosis (MS) in these patients.MethodsWe studied the medical records of a total of 109 patients with a clinical diagnosis of idiopathic ON treated in the Taipei Veterans General Hospital during the period from January 1986 to May 2003. Clinical characteristics, management, and disease courses were retrospectively reviewed. Our main focus was on the development of multiple sclerosis after an ON attack. Univariate and multivariate analyses were used to evaluate the risk indicators for MS conversion.ResultsThe patients (58 women, 51 men) had a mean age of 41.2 years at onset. ON was retrobulbar in 46.8% of the patients. Management with or without pulse therapy did not affect the final visual outcome. Female sex, retrobulbar type ON, recurrent cases, elevated cerebrospinal fluid (CSF) IgG index, and central nervous system (CNS) imaging abnormalities were identified as risk indicators for the development of MS (P < 0.05). The 2-year cumulative probability of developing MS was 5.92%, and the 5-year cumulative probability was 14.28%. The conversion rate to MS did not differ among treatment groups.ConclusionsIdiopathic ON patients in Taiwan have an older age at onset and a higher percentage of optic disc edema than reported in previous literature. The characteristic features of ON patients associated with a high risk of developing MS are female sex, retrobulbar type ON, CNS imaging abnormalities, elevated CSF IgG index, and recurrence. Idiopathic ON patients in Taiwan display a significantly lower conversion rate to MS. Jpn J Ophthalmol 2006;50:170–175

Leukaemic infiltration of the optic nerve as the initial manifestation of leukaemic relapse.

Leukaemic infiltration of the optic nerve as the initial manifestation of leukaemic relapse

Early Relapse in Multiple Sclerosis-Associated Optic Neuritis Following the Use of Interferon b-1a in Chinese Patients

PurposeThe incidence of multiple sclerosis (MS) is relatively rare in Chinese. The beneficial effect of interferon β-1a in modifying the disease course of MS has been rarely analyzed in Chinese patients. The aim of this study was to investigate the clinical response to interferon β1-a in Chinese patients with MS-associated optic neuritis (ON).MethodsA retrospective case control study was conducted in 20 MS patients with optic nerve involvement. The interferon (IF) group comprised ten patients receiving interferon β-1a. The noninterferon (NIF) group comprised another ten MS patients with optic nerve involvement who did not receive interferon treatment. The clinical characteristics, laboratory data, management, and disease course were retrospectively analyzed. The main outcomes of the study were the annualized relapse rate (ARR) for MS, and final visual outcome data.ResultsThe ARR did not differ between the pretreatment period and the posttreatment period within the IF group. There was also no significant decrease of ARR in the IF group when compared with the NIF group. However, we observed an early recurrence of ON in 50% of the IF cases following the use of interferon β-1a. The final visual outcome did not differ between the IF group and the NIF group.ConclusionsThe use of interferon β-1a should be carefully monitored because early relapse of ON may complicate the treatment course in this patient group.

Novel Mutations of the OPA1 Gene in Chinese Dominant Optic Atrophy

PURPOSE To investigate OPA1 gene mutations in Chinese patients with autosomal dominant optic atrophy and sporadic optic atrophy. DESIGN Molecular genetic studies and observational case series. PARTICIPANTS Twenty-four patients from 10 unrelated Chinese pedigrees of autosomal-dominant optic atrophy, 35 isolated cases with bilateral optic atrophy of unknown cause, and 50 unrelated normal controls. METHODS Genomic DNA was extracted from peripheral blood leukocytes. All 28 coding exons of the OPA1 gene and flanking intron splice sites were sequenced. Putative mutations were reexamined for segregation in the respective families by direct sequencing. Further characterization of selected splicing site mutations was performed by reverse transcription-polymerase chain reaction (PCR) of each patients leukocyte mRNA. MAIN OUTCOME MEASURES Direct sequencing of the OPA1 gene. RESULTS Four OPA1 gene mutations were detected, including 2 splicing site mutations (c.1065+2T>C on intron 10 and c.1212+2insT on intron 12), 1 deletion (c.1776_1778delACT on exon 19), and 1 missense mutation (c.2846 T>C on exon 28). The c.1212+2insT, c.1776_1778delACT, and c.2846T>C mutations were newly identified OPA1 mutations. Reverse transcription (RT)-PCR and direct sequencing revealed that the splicing site mutations on c.1065+2T>C and c.1212+2insT caused skipping of exons 10 and 12, respectively. The c.1776_1778delACT mutation led to a deletion of the Leu amino acid on residue 593. OPA1 mutations were found in 4 of 10 familial cases (40 %) and in 1 of 35 sporadic cases of optic atrophy. CONCLUSIONS OPA1 gene mutations are causative in Chinese autosomal-dominant optic atrophy and sporadic optic atrophy. Screening for OPA1 gene mutations in patients with childhood onset optic atrophy who have no affected relatives is useful in making the diagnosis.

Nasopharyngeal Carcinoma with Initial Presentation of Isolated Compressive Optic Neuropathy-A Case Report

Purpose: To describe a case of nasopharyngeal carcinoma (NPC) with initial presentation of isolated compressive optic neuropathy. Method: Case report Result: A 35-year-old female got impaired visual acuity, poor color vision and relative afferent pupillary defect in her right eye without other cranial nerve signs. Optic nerve compression by soft tissue mass was found in computed tomography (CT) and magnetic resonance imaging (MRI). Neuroimaging studies revealed right orbital invasion of NPC through the pterygopalatine fossa. Optic nerve was involved at the right orbital apex with sparing of the other neurovascular tissues. Nasopharyngeal biopsy showed an undifferentiated carcinoma. After chemotherapy, she recovered her vision to 20/20 in the right eye. Conclusion: NPC patient may present with an initial presentation of isolated compressive optic neuropathy.