PURPOSE: To report two cases of Williams syndrome with ocular manifestations CASE SUMMARY: A 5-year-old boy who was diagnosed with Williams syndrome visited our hospital for ophthalmic examination. Best corrected visual acuity (BCVA) in both eyes was 0.6. He had myopic astigmatism and 8 prism diopters of esotropia. Oval-shaped pupil with a stellate pattern of the iris and increased retinal vascular tortuosity were seen in both eyes. Another case of an 8-year-old boy with Williams syndrome also had myopia in both eyes. BCVA was 0.7 in the right eye and 0.4 in the left eye. A stellate pattern of the iris and increased retinal vascular tortuosity were also seen in both eyes. CONCLUSIONS: Williams syndrome, deletion of 7q11.23, has ocular anomalies including a stellate pattern of the iris, refractive errors, amblyopia, and strabismus. Therefore, careful ophthalmic examination should be considered when children are diagnosed with Williams syndrome.
Amblyopia ; Astigmatism ; Child ; Child, Preschool ; Esotropia ; Humans ; Iris ; Male ; Myopia ; Pupil ; Refractive Errors ; Retinaldehyde ; Strabismus ; Visual Acuity ; Williams Syndrome*

PURPOSE: To investigate the underlying causes and clinical characteristics of patients referred with intraocular pressure (IOP) elevation. METHODS: We retrospectively reviewed the medical records of patients who were referred with IOP elevation from July 2016 to July 2017. Patients with baseline IOP ≥ 22 mmHg and those who were treated and followed up for 6 months were included. The prevalence rates of the underlying diseases that caused IOP elevation were evaluated and the clinical characteristics were compared between patients with primary and secondary glaucoma. RESULTS: A total of 127 patients were included (mean age, 59.3 ± 16.8 years; baseline IOP, 31.7 ± 10.5 mmHg). Among the study participants, 22.0%, 31.5%, and 46.5% had been diagnosed with ocular hypertension, primary glaucoma, and secondary glaucoma, respectively. Among the causes of IOP elevation, open-angle glaucoma (20.5%) had the highest prevalence rate among those with primary glaucoma and inflammation-related glaucoma (12.6%) was the most prevalent cause among those with secondary glaucoma. In a comparison between patients with primary and secondary glaucoma, the percentage of IOP reduction was not significantly different at 6 months after treatment (52.1% vs. 53.9%, p = 0.603). However, the rate of patients treated with drugs other than IOP lowering agents or who underwent surgery was significantly higher in the secondary glaucoma group compared with the primary glaucoma group (all p < 0.05). At 6-month follow-up, the secondary glaucoma group showed significantly higher improvement rates of visual acuity (p = 0.004), but had a larger proportion of patients with a visual acuity of less than or equal to finger count (p = 0.027). CONCLUSIONS: Treatment and visual outcome can vary depending on the underlying cause of IOP elevation. Therefore, a thorough examination for determining the cause of IOP elevation is recommended at the initial stage.
Fingers ; Follow-Up Studies ; Glaucoma ; Glaucoma, Open-Angle ; Humans ; Intraocular Pressure ; Medical Records ; Ocular Hypertension ; Prevalence ; Retrospective Studies ; Visual Acuity

Syphilis, the "great imitator" of skin diseases, is a chronic systemic infectious disease with a waxing and waning course. Clinical manifestations of syphilis are variable in appearance and have been described for centuries. Especially, secondary syphilis is characterized by large diversity of presentation. They include macular, papular, papulosquamous, syphilis cornee, psoriasiform, annular en cockade, nodular, condylomata lata, malignant syphilis, mucosal lesions, loss of the hairs, and alteration of the nails. Nail involvement of syphilis includes changes on nail plate (syphilitic onychia) or periungual tissue (syphilitic paronychia). A 20-year-old man was presented with multiple erythematous broad eroded surfaced papules and macules on the scrotum and scaly exfoliated patch with erythematous swelling on the right thumb with onychodystrophy and mild tenderness on the nail. Serological screening for syphilis showed increased titer for VDRL (1:16) and TPHA (+). After intramuscular treatments with benzathine penicillin G, the skin lesions on the scrotum cleared within 1 month and the nail dystrophy showed slight improvement.
Communicable Diseases ; Cytochrome P-450 CYP1A1 ; Ethylenediamines ; Hair ; Humans ; Mass Screening ; Nails ; Penicillin G Benzathine ; Scrotum ; Skin ; Skin Diseases ; Syphilis ; Syphilis, Cutaneous ; Thumb ; Young Adult