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.

Serum Vitamin D Levels in Patients with Acute Anterior Uveitis.

PURPOSE: To evaluate serum 25-hydroxyvitamin D levels in patients with acute anterior uveitis (AAU). METHODS: This observational case-control study involved 20 patients with AAU, and 20 consecutive, age and sex-matched healthy subjects without any ocular or systemic diseases. Serum 25-hydroxyvitamin D was quantified with electrochemiluminescence technique. RESULTS: No significant differences were found between the groups with respect to age (p = 0.185) and sex (p = 0.465). Serum vitamin D levels of the subjects with AAU (mean 5.75 ± 4.50 ng/mL, median 4.00 ng/mL, range: 3.00-19.00 ng/mL) were significantly lower than the control group (mean 12.96 ± 5.89 ng/mL, median 11.00 ng/mL, range: 5.20-25.92 ng/mL) (p<0.001). CONCLUSIONS: We found significantly low serum levels of vitamin D in patients with AAU, which suggest that vitamin D deficiency may play a role in the pathogenesis of anterior uveitis. Further studies are necessary to demonstrate the efficacy of vitamin D supplementation in the management of patients with anterior uveitis.

Oxidative stress parameters and serum magnesium levels in patients with seasonal allergic conjunctivitis.

OBJECTIVE: To evaluate oxidative stress parameters and serum magnesium (Mg) levels in patients with seasonal allergic conjunctivitis (SAC) during the pollen season. METHODS: This observational cross-sectional study involved 35 patients with SAC without any other ocular and systemic diseases, and 38 consecutive, age- and sex-matched healthy subjects. Serum malondialdehyde (MDA), adjusted ischemia modified albumin (IMA), and Mg levels were quantified, and the results were compared between the groups. RESULTS: No significant differences were found between the groups with respect to age (p = 0.416) and sex (p = 0.362). Serum MDA and adjusted IMA levels of the subjects with SAC (69.54 ± 7.71 µM and 0.74 ± 0.39 ABSU) were significantly higher than the control group (64.61 ± 5.89 µM and 0.57 ± 0.19 ABSU) (p = 0.002 and p = 0.025, respectively). There was no significant difference for serum Mg levels between the groups (p = 0.177). CONCLUSION: We demonstrated higher levels of oxidative stress parameters in patients with SAC compared to the control group, which imply a possible role of oxidative stress in the pathogenesis of SAC.

Pain Perception in Phacoemulsification with Topical Anesthesia and Evaluation of Factors Related with Pain.

OBJECTIVES: Evaluation of pain during and after phacoemulsification with topical anesthesia in patients with senile cataract and investigation of factors related with pain. MATERIALS AND METHODS: Ninety-two adult patients scheduled for routine clear corneal phacoemulsification with topical anesthesia who had no previous cataract surgery in their fellow eyes were included in the study. Verbal pain scale and visual analog scale were used to measure pain intensity. Demographic characteristics, concomitant systemic diseases, drug consumption, need of additional anesthesia during surgery, surgical complications, duration of surgery and surgeon comfort were also evaluated for each patient. RESULTS: Seventy-two patients (78.3%) reported pain during surgery and 68 patients (73.9%) reported pain in the period after the surgery. When the intensity of pain during the surgery was evaluated, the percentage of patients reporting mild, moderate and intense pain was 35.9%, 25.0% and 17.4%, respectively. The average verbal pain score during the surgery was 1.4±1.0 (0-3). Reported pain level was not associated with age or gender (p>0.05). Diabetic patients and patients who consumed nonsteroidal anti-inflammatory drugs in the morning before operation reported less pain during and after the surgery (p<0.05). There were no complications except posterior capsule rupture in one patient. Duration of surgery was longer in patients who reported pain during surgery (p<0.05). There was no significant difference between pain reported during surgery and surgeon comfort (p>0.05). CONCLUSION: Patients frequently experience pain during phacoemulsification with topical anesthesia. Although pain perception does not affect surgical success, preoperative administration of analgesics in suitable patients or giving additional anesthesia to patients reporting severe pain during surgery may increase patient comfort.

Changes in choroidal thickness during pregnancy detected by enhanced depth imaging optical coherence tomography.

AIM: To compare the choroidal thickness measurements of healthy pregnant women obtained in the first trimester with measurements obtained in the third trimester using enhanced depth imaging optical coherence tomography (OCT). METHODS: 54 eyes of 27 healthy pregnant women and 50 eyes of 25 age matched healthy women were enrolled in this observational, cross-sectional study. The pregnant women underwent two OCT scans, one in the first trimester at gestational weeks 6-8, and the other during the third trimester at gestational weeks 32-37; the control group had OCT scanning during the follicular phase of the menstrual cycle, using the enhanced depth imaging mode. Choroidal thicknesses were measured at the fovea, at three locations nasal, and at three locations temporal to the fovea at 500 µm intervals. RESULTS: The choroidal thickness measurements obtained in the third trimester were significantly decreased in all measured points in both eyes compared to the measurements obtained in the first trimester (p<0.05). At the fovea, the mean (±SD) choroidal thickness measured in the first trimester was 349.22±82.11 µm in the right eyes and 341.30±85.22 µm in the left eyes, which decreased to 333.56±76.61 µm in the right eyes (p=0.014) and 326.93±75.84 µm in the left eyes (p=0.024) in the third trimester. Although not statistically significant, choroidal thicknesses of the control group were less than the choroidal thicknesses of the pregnant women (p>0.05). CONCLUSIONS: Choroidal thickness was found to be significantly decreased in healthy pregnant women during the third trimester compared to the first trimester. This finding can provide valuable information when interpreting pregnancy related ocular disorders.

Acute central retinal vein occlusion secondary to reactive thrombocytosis after splenectomy.

The diagnosis and treatment of central retinal vein occlusion was reported in a young patient. Central retinal vein occlusion was probably related to secondary to reactive thrombocytosis after splenectomy. The patient was treated with steroids for papilledema and administered coumadin and aspirin. The symptoms resolved, and the findings returned to normal within three weeks. Current paper emphasizes that, besides other well-known thrombotic events, reactive thrombocytosis after splenectomy may cause central retinal vein occlusion, which may be the principal symptom of this risky complication. Thus, it can be concluded that followup for thrombocytosis and antithrombotic treatment, when necessary, are essential for these cases.

Plasma vitamin D and serum total immunoglobulin E levels in patients with seasonal allergic conjunctivitis.

PURPOSE: To evaluate plasma 25-hydroxyvitamin D and serum total immunoglobulin E (IgE) levels in patients with seasonal allergic conjunctivitis (SAC). METHODS: This observational case-control study involved 49 patients with SAC without any other ocular and systemic diseases, and 44 consecutive, age- and sex-matched healthy subjects. Plasma 25-hydroxyvitamin D and serum total IgE levels of all subjects were quantified with electrochemiluminescence technique. Results were compared between the groups, and p values of <0.05 were considered as statistically significant. RESULTS: No significant differences were found between the groups with respect to age (p = 0.41) and sex (p = 0.98). Plasma vitamin D levels of the subjects with SAC (median 8.03 ng/ml, range 3.00-17.97 ng/ml) were significantly lower than the control group (median 10.52 ng/ml, range 3.30-25.92 ng/ml) (p = 0.007). Serum total IgE levels of patients with SAC (median 48.65 IU/ml, range 1.77-812.00 IU/ml) were significantly higher when compared to the control group (median 32.49 IU/ml, range 0.14-104.60 IU/ml) (p = 0.003). CONCLUSIONS: We found lower plasma vitamin D levels and higher serum total IgE levels in patients with SAC.

Enhanced depth imaging optical coherence tomography of the choroid in migraine patients: implications for the association of migraine and glaucoma.

AIM: To compare the choroidal thickness measurements obtained during the attack period and during the pain-free interval in migraine patients using enhanced depth imaging optical coherence tomography (OCT). METHODS: 58 eyes of 29 subjects with a diagnosis of migraine with or without aura were enrolled in this observational, cross-sectional study. Two OCT scans were performed for each patient, one during the peak period of the migraine attack and the other during the headache-free interval, using the enhanced depth imaging mode. Choroidal thicknesses were measured at the fovea, at three locations nasal and at three locations temporal to the fovea at 500 µm intervals. RESULTS: In patients with unilateral headaches, the choroidal thickness measurements obtained during the attack period were significantly increased only in the eyes on the headache side (p<0.001) compared to basal levels. At the fovea, the choroidal thickness measured in the pain-free interval was 373.45 ± 76.47 µm (mean ± SD), which increased to 408.80 ± 77.70 µm during the attack period (p<0.001). When the choroidal thickness measurements of patients with bilateral headaches were compared to basal levels, a statistically significant increase was observed at five out of the seven measured points in the right eyes (p<0.05) and at all seven measured points in the left eyes (p<0.05). CONCLUSIONS: Choroidal thickness was found to be significantly increased in migraine patients during the attack period when compared to basal levels. The possible implications of this finding on the association between migraine and glaucoma are discussed.