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(Br J Ophthalmol 1999;83:98-103)

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Fifty-five patients with Down's syndrome were examined to evaluate the characteristics and frequency of ocular findings. Of these patients, 29 (52.7%) were hypermetropes, 7 (12.7%) were emmetropes, and 7 (12.7%) were myopes; astigmatism of more than 3.00 diopters was present in 7(12.7%) patients. Strabismus was observed in 12 (21.8%) patients. All but one of these 12 patients also had esotropia. Congenital nasolacrimal duct obstruction was present in 12 subjects (21.8%). Blepharitis was found in 19 (34.5%) cases. Nystagmus occurred in 7 (12.7%) patients. Brushfield spots were detected in only 20 (36.3%) of the patients and were more common in light-colored irides. Lens opacities were diagnosed in 11 (20%) patients, and two underwent successful cataract surgery. On fundus examination, an increased number of retinal vessels crossing the optic nerve head was detected in 21 (38.1%) cases. One of the patients had a retinal detachment. Significant but correctable ocular problems are present in patients with Down's syndrome and may interfere with the quality of life of the patient and with binocular vision. Surgical intervention may be needed for strabismus and for cataracts.

Aim-To evaluate retrospective data on the clinical findings, histological features, radiological diagnosis, and management outcomes in orbital lymphangioma. Methods-Data on 26 orbital lymphangioma patients managed over 16 years were re-evaluated. The computed tomograph and magnetic resonance scans and histological slides were reviewed. Parametric techniques were used to assess correlations among clinical, radiological, and histopathological factors. Results-At presentation proptosis was present in 85%, ptosis in 73%, and restrictive eye movements in 46% of patients. The accuracy of the initial radiology interpretations was 77%. 24 cases required one or more surgeries. The mean follow up was 9.2 years (range 1-14 years). 58% of patients developed recurrences. In cases that recurred, motility restriction was significantly more frequent at initial examination than cases without recurrence (p<0.05). After therapy, 75% of patients were satisfied with their visual function and cosmetic appearance. Conclusions-Conservative management of orbital lymphangioma with multiple partial resections may achieve satisfactory results. (Br J Ophthalmol 1999;83:76-80)

Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome, and muscle-eye-brain disease are clinically similar autosomal recessive disorders characterized by congenital muscular dystrophy, cobblestone lissencephaly, and eye anomalies. FCMD is frequent in Japan, but no FCMD patient with confirmed fukutin gene mutations has been identified in a non-Japanese population. Here, we describe a Turkish CMD patient with severe brain and eye anomalies. Sequence analysis of the patient's DNA identified a homozygous 1bp insertion mutation in exon 5 of the fukutin gene. To our knowledge, this is the first case worldwide in which a fukutin mutation has been found outside the Japanese population. This report emphasizes the importance of considering fukutin mutations for diagnostic purposes outside of Japan.

DM probably exaggerates the fibrotic process in PD. Diabetic patients with PD have a higher risk of severe deformity and erectile dysfunction (ED). PD seems to be a silent consequence of DM and should be actively sought in diabetic men.

Introduction The effects of squamous and/or glandular differentiation in urothelial carcinoma of bladder on recurrence, progression and survival rate were evaluated in this study. Patients and methods Between 1998 and 2003, a total of 223 patients who had been treated with transurethral resection for bladder cancers were evaluated. The patients were divided into two groups as; Group I: tumor patients with squamous and/or glandular differentiation, Group II: patients without these findings. Results Histologically 189 (84.7%) were conventional urothelial carcinoma and 34 (15.2%) were tumors with squamous and/or glandular differentiation. The mean age of the patients was 64.4 ± 12.7 (range 36-81) years. Survival rates within a period of 46.23 ± 14.8 (12-67) months were 76.47% for Group I and 89.94% for Group II (P = 0.027). The stage distribution as pTa, pT1, and ‡pT2 was 2 (5.9%), 18 (52.9%), and 14 (41.2%) in Group I and 101 (53.4%), 51 (27%) and 37 (19.6%) in group II, respectively (P = 0.001). There was a statistically significant tendency towards higher stage at presentation in Group I and the grade distribution was significantly higher in Group I than Group II (P < 0.001). Conclusion High recurrence rates and poor prognosis of these patients should be kept in mind in the follow-up period. In this respect, these patients should be followed up closely.