Combined use of intravitreal bevacizumab and oral steroid treatment in three diabetic papillopathy patients: a diagnostic and treatment challenge.

Diabetic papillopathy (DP), a form of optic disc edema, is characterized by decreased visual acuity and mild to severe visual field defects. While there is no consensus about treatment, some publications report that intravitreal anti-vascular endothelial growth factor (anti-VEGF) injection may be beneficial. To our knowledge, however, no research reports on the effects of combining anti-VEGF injection and oral steroids in DP treatment. In this case report we present three DP cases that showed rapid improvement following therapy with intravitreal bevacizumab and oral steroids. Optic disc edemas were significantly decreased, and visual acuities were markedly increased in the first week of treatment. This report suggests that combined use of these therapies may be safely used in patients diagnosed with DP.

Early diagnosis for cerebrotendinous xanthomatosis with juvenile cataract and family history.

PURPOSE: Cerebrotendinous xanthomatosis is characterized by excessive accumulation of cholestanol and cholesterol in multiple tissues including the brain, tendons, and the crystalline lens. Since juvenile cataract is the most common and early pathognomonic feature of this disease, it is critical to analyze some factors such as family history, systemic findings, and cataract morphology in children with cataracts. This study aims to report the early diagnosis of cerebrotendinous xanthomatosis in four siblings presenting with unique juvenile cataracts from a family with consanguineous marriage. METHODS: This is a retrospective noncomparative case series. Four symptomatic siblings and their asymptomatic parents were examined. Detailed eye examination, medical history analysis, evaluation of systemic findings, biochemical tests, and mutation analysis were performed. RESULTS: While one sister presented with bilateral fleck-like opacities and posterior subcapsular cataract, two twin sisters had anterior star-shaped sutural cataract and posterior subcapsular cataract besides bilateral fleck-like opacities. The 20-year-old brother who had previously died in a traffic accident had bilateral juvenile cataract of unknown morphology. When asked specifically, none of the cases described a history of childhood diarrhea. Two sisters and one brother had neurological findings such as trouble walking and slowed speech. No significant ocular or systemic finding was found in both asymptomatic parents. Homozygous c.1263 + 1 G>A (intron 7) mutation was detected in the CYP27A1 gene in all symptomatic cases. CONCLUSION: In the absence of chronic diarrhea, the presence of juvenile cataract (especially bilateral fleck-like opacities), neurological symptoms in the family history, and consanguinity of the parents might be considerably helpful for the early diagnosis of cerebrotendinous xanthomatosis.

Clinical, demographic characteristics, and treatment protocols of optic neuropathies: Three-year follow-up experiences from a tertiary hospital in Turkey.

Background: This study was conducted to review the demographic and clinical characteristics, treatment protocols, and visual outcomes of patients with optic neuropathy. Methods: This historical cohort study analyzed the clinical features of 91 patients with optic neuropathy followed up for three years at a university hospital in Turkey. Results: Non-arteritic anterior ischemic optic neuropathy (NA-AION) was the most common group among the optic neuropathy subgroups (47.2%), and optic neuritis (ON) was the second most common group (38.5%). The mean age of symptom onset for NA-AION was 64.97 ± 12.15 years, significantly higher than the mean age of onset for ON (40.28 ± 15.52 years). Most of the patients with NA-AION had at least one systemic disease causing microangiopathy [51.1% had diabetes mellitus (DM), 33.3% had hypertension (HTN)]. Among the patients with ON, 51.4% were idiopathic, and 25.7% were multiple sclerosis (MS)-related ON cases. Patients with ischemic optic neuropathy (ION), ON, and traumatic optic neuropathy received pulse intravenous (IV) corticosteroids, and eleven patients with NA-AION received acetylsalicylic acid (ASA) therapy in addition to corticosteroids. There was a statistically significant increase in visual acuity in NA-AION and ON groups (P = 0.019). It was observed that the cases of ON peaked in the winter months in Turkey. Conclusion: In the differential diagnosis between NA-AION and idiopathic ON, the presence of one or more vascular systemic diseases and mean age may be the main factors. IV steroid treatment given to patients with NA-AION in the acute phase may significantly improve visual acuity.