Scoliosis, blindness and arachnodactyly in a large Turkish family: is it a new syndrome?

In this report we have described an affected sib in a large Turkish family who appears to have a new distinct dominantly-inherited blindness, scoliosis and arachnodactyly syndrome. The combination of clinical abnormalities in these patients did not initially suggest Marfan syndrome or other connective tissue disorders associated with ectopia lentis. The proband was a 16-year-old boy who was referred to our clinics for scoliosis. He had arachnodactyly of both fingers and toes. He had been suffering from progressive visual loss and strabismus since he was eight-years-old. His 20-year-old brother had severe kyphoscoliosis, and arachnodactyly of fingers and toes. He was 130 cm tall and was bilaterally blind. His 23-year-old sister had only eye findings but no arachnodactyly or scoliosis. His 60-year-old father had mild scoliosis, blindness and arachnodactyly and mother was normal. We performed routine mutation analyses in the genes FBN1, TGFBR1 and TGFBR2, but no mutation has been detected. Our Turkish patients are most likely affected by a hitherto unrecorded condition which is caused by an autosomal dominant gene defect with variable expression but we can not exclude multigenic inheritance. Further studies are needed to assess the contribution of sex influence to the syndrome because the female relative is less affected.

Effect of atorvastatin on ocular blood flow velocities in patients with diabetic retinopathy.

AIM: To investigate blood flow velocities in the ophthalmic and central retinal arteries (CRAs) in patients with diabetic retinopathy before and after atorvastatin treatment. METHODS: 45 patients with type 2 diabetes were included in this double-blind, placebo-controlled study. The patients with diabetes were divided into three subgroups: group 1 (n = 15) included patients with non-proliferative diabetic retinopathy (NPDR); group 2 (n = 15) had patients with proliferative diabetic retinopathy (PDR); and group 3 (n = 15; placebo group) included 8 patients with NPDR and 7 patients with PDR. The patients in groups 1 and 2 (atorvastatin group) received 10 mg atorvastatin daily for 10 weeks. Pre-treatment and post-treatment serum levels of total cholesterol, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol and triglyceride were recorded before and after treatment. Ocular blood flow velocities of the ophthalmic artery and CRA were evaluated by colour Doppler imaging before and after treatment in each group. RESULTS: The baseline haemodynamic parameters were similar between atorvastatin and placebo groups (p>0.05 for both). Atorvastatin significantly decreased serum levels of total cholesterol, low-density lipoprotein cholesterol and triglycerides in groups 1 and 2 compared with pretreatment levels (p<0.001 for both). The mean peak systolic flow velocities (PSVs) of the ophthalmic artery in group 2, and the mean PSV and resistive indices of the CRA in groups 1 and 2 decreased significantly after atorvastatin treatment (p<0.05 for both), whereas the mean end diastolic flow velocity of the ophthalmic artery and CRA did not change (p>0.05). There was no significant difference in ocular blood flow velocities in the placebo group (p>0.05). CONCLUSION: Atorvastatin may have a role in reducing diabetic retinal complications, with improvement in vascular resistance and decrease in the mean PSVs of the ophthalmic artery and CRA. However, further studies with large numbers of patients are needed to obtain the long-term results of this drug.

Intravitreal triamcinolone acetonide for treatment of persistent macular oedema in branch retinal vein occlusion.

BACKGROUND: To evaluate the efficacy of intravitreal triamcinolone acetonide injection on persistent macular oedema in branch retinal vein occlusion that fails to respond to previous laser photocoagulation. MATERIAL AND METHODS: A total of 19 eyes of 19 patients with persistent macular oedema due to branch retinal vein occlusion were treated with 8 mg/0.2 ml of intravitreal triamcinolone acetonide injection. The main outcome measures included best-corrected visual acuity, intraocular pressure, and macular oedema map values of Heidelberg Retinal Tomograph II (HRT II) before and after intravitreal triamcinolone injection. RESULTS: The mean follow-up time was 6.2+/-1.0 months. The mean baseline best-corrected logarithm of minimal angle of resolution (LogMAR) value for visual acuities of the patients before intravitreal triamcinolone injection was 1.01+/-0.16. After treatment, it was 0.55+/-0.22 at the 1-month, 0.56+/-0.22 at 3-month, and 0.62+/-0.22 at the last visits and the differences were statistically significant when compared with baseline values (for each, P<0.001). The mean oedema map values on HRT II significantly decreased by 28.5% at 1-month, 23.8% at 3-month, and 23.8% at the last visit when compared with preinjection values (for each, P<0.001). Intraocular pressure elevation exceeding 21 mmHg was observed in 26.3% of eyes at 1-month, 15.7% at 3-month, and 5.2% at the last visit, but was controlled with topical anti-glaucomatous medications in all eyes. CONCLUSION: Intravitreal triamcinolone acetonide application is a promising approach in the treatment of persistent macular oedema due to branch retinal vein occlusion non-respondent to laser photocoagulation.

The efficacy of intravitreal triamcinolone acetonide on macular edema in branch retinal vein occlusion.

PURPOSE: To evaluate the effectiveness of intravitreal triamcinolone acetonide as primary treatment of macular edema in branch retinal vein occlusion. METHODS: Fifteen eyes of 15 patients with macular edema due to branch retinal vein occlusion (Group 1) who received 8 mg/0.2 ml of intravitreal triamcinolone injection as primary treatment were retrospectively evaluated. The control group (Group 2) consisted of 19 eyes of 19 patients who had received laser treatment for macular edema. The main outcome measures included best-corrected visual acuity, intraocular pressure, and macular edema map values of Heidelberg Retinal Tomograph II. RESULTS: In Group 1, mean visual acuity improved significantly from a mean logMAR (logarithm of minimal angle of resolution) value of 0.98+/-0.19 at baseline to a maximum of 0.24+/-0.24 during a mean follow-up time of 6.3 months. In the control group, the mean baseline log-MAR visual acuity before laser treatment was 1.02+/-0.22, and it was 0.50+/-0.28 at 6-month examinations. Mean improvement in visual acuity at 1-, 3-, and 6-month examinations was significantly higher in Group 1 when compared with the control group (for each, p<0.001). The mean edema map value of Group 1 significantly decreased by 40% at 6-month examinations when compared with preinjection value (p<0.001). In Group 1, mean increase in intraocular pressure elevation was 19.8% at the 1-month, 26.9% at 3-month, and 5.7% at 6-month visits, but intraocular pressures were under control with topical antiglaucomatous medications. CONCLUSIONS: Intravitreal triamcinolone acetonide injection may be a new and promising approach as initial therapy for macular edema due to branch retinal vein occlusion.

Intravitreal triamcinolone acetonide injection as primary treatment for diabetic macular edema.

PURPOSE: To evaluate the effectiveness of intravitreal triamcinolone injection on the course of diabetic macular edema. METHODS: Forty-eight eyes of 48 diabetic patients were treated with 8 mg of intravitreal triamcinolone injection as the primary therapy for diabetic macular edema. The main outcome measures included best-corrected visual acuity, fundus fluorescein angio- graphy, macular edema map values of Heidelberg Retinal Tomograph II (HRT II), and intraocular pressures before and after intravitreal injection. RESULTS: The visual acuity increased in 41 of 48 eyes (85.4%) during a mean follow-up time of 7.5 months. The mean baseline best-corrected logMAR (logarithm of minimal angle of resolution) value for visual acuities of the patients before intravitreal triamcinolone injection was 1.17+/-0.20. After treatment, it was 0.85+/-0.29 at 1 month, 0.73+/-0.30 at 3 months, and 0.74+/-0.31 at 6 months, and the differences were significant when compared with baseline values (for each, p<0.001). The mean edema map values significantly decreased by 36% at the 6-month examinations when compared with preinjection values (p<0.001). Average intraocular pressure rose 24.3%, 29.1%, and 11.8% from baseline at the 1-, 3-, and 6-month follow-up intervals. Intraocular pressure elevation exceeding 21 mmHg was observed in 8 of 48 eyes (16.6%), but was controlled with topical antiglaucomatous medications in all eyes. CONCLUSIONS: Intravitreal triamcinolone application provides significant improvement in visual acuity of diabetic patients and clinical course of macular edema, and may therefore be a promising approach in the primary treatment of diabetic macular edema.

Rieger anomaly with bilateral choroidal osteoma: coincidence or association?

PURPOSE: To report a case of Rieger anomaly associated with bilateral choroidal osteoma. CASE: An 18-year-old woman presented with corectopia, iridocorneal adhesions, and stromal hypoplasia of the iris, and was diagnosed with Rieger anomaly. RESULTS: Fundus examination revealed bilateral yellowish-orange, placoid degenerative fundus lesions with pseudopod-like edges associated with the areas of retinal pigment epithelium atrophy, indicating choroidal osteoma. Fundus fluorescein angiography showed bilateral early patchy and late diffuse hyperfluorescence. B-scan echography revealed placoid lesion at the posterior ocular coats characterized by localized areas of high ultrasound reflectivity with a corresponding retrobulbar orbital shadowing. This indicated a dense calcium foreign body. In addition, computed tomography of the orbit demonstrated bilateral plate-like thickening with calcification of the choroid that was isodense with the normal skeletal bone. CONCLUSIONS: Although Rieger anomaly is classically known as a disease of the anterior segment of the eye, choroidal osteoma may be a posterior segment finding of the disease that has not previously been reported.

Bilateral proptosis caused by orbital myositis. A case report.

Proptosis, unilateral or bilateral, is a frequent indication for medical evaluation and orbital computed tomography. The most common cause of proptosis in adults and children is inflammatory disorders. Orbital myositis is a subgroup of the orbital pseudotumor syndrome in which one or more of the extraocular muscles are primarily infiltrated by an inflammatory process. Computed tomography and ultrasonography showed enlargement of one or more extraocular muscles in orbital myositis. In our case, we observed clinically and by orbital computed tomography, evidence of isolated bilateral extraocular muscle swelling after upper respiratory tract infection. Proptosis and other findings were spontaneously and completely resolved after twenty days. Because proptosis caused by orbital myositis is extremely rate in children and there is limited information in the literature, this case was reported.

Scintigraphic visualization of ocular melanoma with Tc-99m glutathione.

In a patient with ocular melanoma scintigraphy obtained with 99mTc-GSH clearly demonstrated the histologically proven ocular lesion both in planar and SPECT images. 99mTc-sestamibi study obtained in the same patient three days later was negative. 99mTc-GSH is a potential alternative to the currently used radiopharmaceuticals for imaging both cutaneous and ocular melanomas and their metastases.

An autosomal recessive adducted thumb-club foot syndrome observed in Turkish cousins.

Male and female cousins, the offspring of consanguineous Turkish parents, have been affected by a hitherto unreported combination of problems comprising moderate to severe psychomotor developmental delay, ocular anterior chamber abnormality, facial dysmorphisms (broad, bossed forehead, late-closing fontanelle, telecanthus, downslanting palpebral fissures, posteriorly rotated ears, downturned angles of mouth), arachnodactyly and distal arthrogryposis with severely adducted thumbs and club feet. This striking phenotype has some similarities with the multiple pterygium syndrome (Escobar syndrome), but it most likely represents a distinct condition caused by an autosomal recessive gene defect.

Effects of topically applied prostaglandin F2 alpha tromethamine salt on glaucomatous human eyes.

Prostaglandin F2 alpha (PGF2 alpha) as its tromethamine salt was topically applied, and hypotensive and other ocular effects were studied, in glaucomatous human eyes. After baseline intraocular pressure (IOP) measurements, 100 micrograms PGF2 alpha tromethamine salt dissolved in 50 milligrams saline was applied to 23 glaucomatous eyes of 20 patients. The pretreatment diurnal IOP values of the same eye served as control group. It was found that in comparison with baseline values, PGF2 alpha caused significant but transient elevation in IOP in the first half-hour (mean 1.95 mm Hg, p < 0.01), but it decreased below baseline values at the first hour. A significant decrease in IOP from baseline was observed at the 2nd hour (p < 0.05), which became more prominent between the 4th and 24th hours (p < 0.001). PGF2 alpha produced a maximal IOP reduction of 10.21 mm Hg at the 12th hour (p < 0.001). The IOP differences between PGF2 alpha-treated and control groups were significant between the 4th and 24th hours (p < 0.001), with the maximal IOP difference of 9.21 mm Hg at the 12th hour (p < 0.001). PGF2 alpha caused marked conjunctival hyperaemia in all eyes. Aqueous flare and cellular response were not seen in any of the eyes. Half of the patients experienced ocular smarting or a foreign-body sensation, periocular pain and headache. PGF2 alpha reduced IOP effectively in glaucomatous human eyes.

Effects of topically applied prostaglandin F2 alpha on normotensive human eyes.

The ocular effects of topical prostaglandin F2 alpha (PGF2 alpha) were studied in normotensive human eyes. PGF2 alpha as tromethamine salt, 100 micrograms, was applied to one eye of 23 normotensive subjects, intraocular pressure (IOP) and pupil size were measured, objective and subjective findings recorded during the first 24 h. Tonography was performed in 10 subjects. As compared with the baseline, PGF2 alpha caused a significant IOP reduction between 1 and 24 h (p < 0.001), being maximal (4.9 +/- 0.5 mm Hg, mean +/- SEM, p < 0.001) between 4 and 8 h. As compared with the contralateral control eyes, which received 50 microliters of saline, treated eyes exhibited significant IOP reduction between 1 and 24 h (p < 0.001), being maximal (4.2 +/- 0.4 mm Hg, mean +/- SEM, p < 0.001) at 4 h. PGF2 alpha caused marked conjunctival hyperemia in all eyes. Pupillary diameter was not altered. Aqueous flare and cellular response were not seen. Half of the subjects complained of ocular smarting, mild ocular pain or headache. Total outflow facility did not change (p > 0.05).

Oxidative stress and antioxidant defenses in plasma of patients with Behçet's disease.

Plasma myeloperoxidase (MPO) and glutathione peroxidase (GSH-Px) activities, and malondialdehyde (MDA), ceruloplasmin (Cp), transferrin (TF), thiol (SH), selenium (Se) and copper (Cu) levels were determined in patients with Behçet's disease (BD), in order to investigate whether the plasma antioxidant defense system is impaired in BD. When compared to controls, plasma MDA, Cp, Cu levels and also plasma MPO activity were significantly higher in patients, whereas plasma TF, SH and Se levels, and also plasma GSH-Px activity were lower in BD patients than those in controls. In addition, there were significant and positive correlations between MDA-Cp, MDA-Cu, MDA-MPO, MPO-Cp, GSH-Px-Se, Cp-Cu, and TF-SH parameters, but negative correlations between MPO-TF and Cp-TF parameters in BD patients. Based on these findings, it is concluded that plasma antioxidant defense system is insufficient and impaired in BD.

Filtering surgery with mitomycin-C in uncomplicated (primary open angle) glaucoma.

Mitomycin is an antibiotic with antineoplastic activity which inhibits fibroblast proliferation in the operative field in glaucoma filtering surgery. The authors retrospectively evaluated the effectiveness of trabeculectomy with mitomycin-C as an initial surgical procedure in uncomplicated (primary open angle) glaucoma in 17 eyes of 17 patients; 12 eyes of 12 patients that received standard trabeculectomy constituted the control group. Mitomycin was applied at a concentration of 0.5 mg/ml for 3 min to the episclera and 2 min under the scleral flap. Median values for preoperative intraocular pressure was 43 mmHg (range 26-65) in the control group and 40 mmHg (range 30-60) in the mitomycin group (p > 0.05, Mann-Whitney U-test). After an average follow-up of 17 months, median postoperative IOP was 10 mmHg (range 3-18) in the control group and 4 mmHg (range 1.1-20) in the mitomycin group (p < 0.05, Mann-Whitney U-test). Percentage IOP drop was 75.6% in the control group (range 30.8-93.5%) and 89.6% (range 54.2-98%) in the mitomycin group (p < 0.05, Mann-Whitney U-test). The postoperative visual acuities of the two groups did not differ significantly (p > 0.05, Fisher exact test). Although there was not a statistically significant difference between complications, such as elevated intraocular pressure, wound leakage or bleb ulceration in both groups (p > 0.05, Fisher exact test), the number of hypotonous eyes (having an average IOP < or = 5 mmHg) was significantly higher in the mitomycin-C group compared to the controls (p < 0.05, Fisher exact test). Mitomycin established a well formed bleb and reduced the IOP more effectively than did the standard filtering procedure (p < 0.05, Mann-Whitney U-test); however, further work is necessary to evaluate the long-term complications of mitomycin-C surgery such as hypotony. This would help clear any doubts about the safety of this procedure on long-term.