Shoichiro Shirai

Ocular and systemic features of Peters' anomaly.

Abstract Background: To clarify the relationship between associated systemic anomalies and ocular manifestations in patients with Peters’ anomaly, a retrospective study was conducted. Methods: We classified 37 patients with Peters’ anomaly into two groups, one with (+) and one without (–) systemic anomalies. Results: The systemic anomaly (+) group consisted of 13 patients, eight males and five females, with mean age of 2.3 months. Peters’ anomaly was bilateral in six cases and unilateral in seven. Corneolenticular adhesion was observed in 11 cases. Associated ocular anomalies were seen in 12 cases, and developmental glaucoma was present in eight cases. The systemic anomaly (–) group comprised 24 patients, 13 males and 11 females, with mean age of 28.3 months. Peters’ anomaly was bilateral in 11 cases and unilateral in 13. Corneolenticular adhesion was observed in five cases. The associated ocular anomalies were observed in 10 cases, and developmental glaucoma was accompanied in six cases. The incidences of cases with corneolenticular adhesion, those with other ocular anomalies, and those with glaucoma were significantly higher in the systemic anomaly (+) group than in the systemic anomaly (–) group. Conclusions: Peters’ anomaly accompanying corneolenticular adhesion and/or other ocular anomalies should be evaluated for the presence of systemic anomalies.

Anomalies associated with Axenfeld-Rieger syndrome

Abstract · Background: To detect the associated anomalies in patients with Axenfeld-Rieger syndrome is clinically important, because early treatment for such anomalies is crucial to both visual and systemic development. This study was conducted to clarify the associated anomalies in the syndrome. · Methods: We evaluated 21 patients with Axenfeld-Rieger syndrome encountered at Nagoya City University Hospital over a 16-year period. Patients who presented with a prominent Schwalbe’s line accompanying the iris strands were diagnosed as having Axenfeld-Rieger syndrome. · Results: The series consisted of 9 males and 12 females, ranging in age from 1 month to 41 years, mean 15.4±12.7 (SD) years. The syndrome was bilateral in 17 cases and unilateral in 4 cases. Hypoplasia of the iris was observed in 10 eyes of 6 patients. The associated ocular anomalies included sclerocornea in 6 eyes of 3 patients, developmental glaucoma in 5 eyes of 3 patients, persistent pupillary membrane in 4 eyes of 2 patients, microphthalmos in 3 eyes of 2 patients, and typical iris coloboma in 1 eye. Of 10 eyes with hypoplasia of the iris, 5 exhibited glaucoma. The accompanying systemic anomalies included 9 cases of dental anomalies, 5 of facial anomalies, and 3 of Alagille syndrome. · Conclusions: All of the associated ocular and systemic anomalies appeared to arise from the maldevelopment of the neural crest cells. Patients with Axenfeld-Rieger syndrome should therefore be examined for the presence of anomalies in the tissues of neural crest origin. Patients with hypoplasia of the iris should be checked for glaucoma.

Developmental eye abnormalities in mouse fetuses induced by retinoic acid

To clarify the relationship between neural crest cells and ocular anomalies, pregnant mice were treated intraperitoneally with 12.5 mg/kg retinoic acid suspended in corn oil on day 7 of pregnancy (RA group). Control mice were given an equal volume of corn oil (control group). Each group consisted of 5 mother mice, and the offsprings were removed on day 18 of gestation. The fetal mortality was 46.3% in the RA group and 2.2% in the control group. Twenty-two live fetuses of the RA group and 45 of the control group were grossly observed, and the eyes were examined histologically. In the RA group, gross malformations such as microphthalmos (95.5%), cleft lip and palate (36.4%), and central nervous system anomalies (31.8%) were observed, and in the control group, malformations such as microphthalmos (6.7%), central nervous system anomalies (2.2%), and low set ears (2.2%) were seen. Histological examination revealed microphthalmos (47.7%), anophthalmos (38.6%), faulty closure of the embryonic fissure (36.4%), developmental abnormalities of the vitreous (34.1%), aphakia (22.7%), goniodysgenesis (18.2%), and faulty separation of the lens vesicle (15.9%) in the RA group. These anomalies arose from abnormal neural crest cell migration induced by retinoic acid. They were detected in only 3.3, 1.1, 3.3, 8.9, 1.1, 2.2 and 2.2%, respectively of the control group.

Maldevelopment of neural crest cells in patients with typical uveal coloboma.

PURPOSE To clarify the pathogenesis of ocular and systemic anomalies associated with typical uveal coloboma. METHODS The records of 72 patients with typical uveal coloboma (35 males and 37 females) treated at Nagoya City University Hospital during a 16-year period were reviewed. RESULTS Typical uveal coloboma was bilateral in 33 patients and unilateral in 35 patients; 4 patients were unclassified because of severe contralateral microphthalmos. Uveal coloboma was an isolated defect in 23 (37%) patients. Other ocular anomalies were present in 19 (31%) patients, systemic anomalies were found in 7 (11%) patients, and both other ocular and systemic anomalies were noted in 13 patients (21%). The associated ocular anomalies included microphthalmos in 28 eyes of 23 patients, persistent pupillary membrane in 28 eyes of 18 patients, and posterior embryotoxon in 20 eyes of 15 patients. The accompanying systemic anomalies included ear anomalies, retarded growth, and retarded development in 18 patients; heart anomalies in 13 patients; genital hypoplasia in 12 patients; and congenital facial palsy in 10 patients. The collection of malformations known as the CHARGE association was diagnosed in 14 (19%) patients. CONCLUSION Abnormal development of neural crest cells appeared to be responsible for the majority of associated ocular and systemic anomalies in patients in the present series, suggesting that typical uveal coloboma may be related to maldevelopment of the neural crest cells. The present findings indicated that ophthalmologists should be aware of the possible association of typical uveal coloboma with systemic anomalies.

Clinical Evaluation of Posterior Embryotoxon in One Institution

To elucidate the pathogenesis of posterior embryotoxon, we estimated its incidence in our clinic and evaluated its associated ocular and systemic anomalies. Slit-lamp and gonioscopic examinations were performed on 440 randomly selected patients at Nagoya City University Hospital over a 10-month period. Posterior embryotoxon was detected in 107, 50 bilateral and 57 unilateral, cases (24.3%). Twelve (11.2%) of the 107 cases had open-angle glaucoma. Accompanying ocular anomalies included six cases of sclerocornea, two each of persistent pupillary membrane and familial exudative vitreoretinopathy, and 1 each of melanocytoma of the optic nervehead, choroidal nevus and subconjunctival dermoid cyst. Associated systemic anomalies included three cases of Alagille syndrome, two of congenital biliary atresia, and one each of congenital facial palsy with microtia, congenital adrenal hyperplasia, empty sella syndrome, Hirschsprung disease and Wilson disease. Many of these ocular and systemic anomalies were caused by the maldevelopment of neural crest cells. Patients with posterior embryotoxon should be examined for the possible presence of open-angle glucoma and for ocular and systemic anomalies related to maldevelopment of neural crest cells.