RESUMO
Objective: To analyze the changes in visual function and adverse effects of wearing rigid gas permeable contact lens (RGPCL) and primary intraocular lens (IOL) implantation in the infants with monocular aphakia after congenital cataract surgery. Methods: The pre- and postoperative visual acuity, strabismus, nystagmus, adherence to patching and adverse events of the patients with unilateral congenital cataract who underwent cataract surgery with or without primary IOL implantation were analyzed retrospectively. RGPCLs were used to correct aphakia who did not receive IOLs. Results: All of 60 patients were included in this study. Twenty patients with unilateral aphakia used RGPCLs (group 1). Forty patients were implanted with IOLs primarily (group 2). In group 1, there was obvious improvement in visual acuity and strabismus (P<0.05). There was no statistic difference in visual acuity and strabismus between group 1 and group 2 finally. Nystagmus remission rate in group 1 was higher than that in group 2. The patients with adherence to patching had better visual acuity after operation than those without (P<0.05). All of the patients in group 1 had no ocular disease that affect visual acuity. More adverse events happened in group 2. Conclusion: Wearing RGPCL is a safe and effective optical correction method for the patients with monocular aphakia after congenital cataract surgery, especially for the patients below 2 years old who are not suitable for IOL implantation. RGPCL has similar visual correction effect on the patients with primary IOL implantation, but it is accompanied by less adverse events.
RESUMO
Objective • To identify the clinical features of a Chinese Han family with X-linked infantile nystagmus. Methods • A Chinese family with X-linked infantile nystagmus was recruited from Department of Ophthalmology in Xinhua Hospital, Shanghai Jiao Tong University School of Medicine. Peripheral blood from the members of the family was collected and molecular genetic analysis was done. The 5 patients in the family received comprehensive ocular examinations including measurement of visual acuity, degree of anomalous head posture, stereoscopic vision, binocular function, electroretinogram, visual evoked potential, optical coherence tomography, eye movement recording and cycloplegic refraction. Results • A frame-shift mutation (c.823-829delACCCTAC, p.Thr275fs) in the 9th exon of FERM domain containing protein 7 (FRMD7) in the family was found. The similar clinical features of the family included moderate impairment of visual acuity, mild astigmatism, reduced stereoscopic vision, no fusion function, and bidirectional jerk wave form. Their electroretinograms were normal, but there was a peak latency and decreased amplitudes in visual evoked potential. And the structures of maculae had no obvious abnormality. The performance of the anomalous head posture was varied. Conclusion • Thr275fs in FRMD7 protein is identified as the main factor in the Chinese family with X-linked infantile nystagmus. The clinical features of the family show a certain degree of consistency.