The use of carbonic anhydrase inhibitors in the retreatment of cystic macular lesions in retinitis pigmentosa and X-linked retinoschisis.

PURPOSE: The purpose of this study was to determine if carbonic anhydrase inhibitors can restore their efficacy after a period of discontinued use in patients with cystic foveal lesions who demonstrated subsequent worsening in the extent of their foveal cysts after initially exhibiting a favorable response to treatment. METHODS: Retrospective chart review was conducted on all patients with retinitis pigmentosa or X-linked retinoschisis who were either currently on treatment or had been treated with carbonic anhydrase inhibitors for cystic macular lesions. A total of three patients were included in the study. RESULTS: All three patients exhibited a recurrence of their cystic macular lesions while on treatment with carbonic anhydrase inhibitors. After discontinuing treatment for a period of 1 month to 6 months, all patients showed a favorable response to retreatment as monitored with optical coherence tomography scans. CONCLUSION: The present study shows that patients who show signs of recurring macular cysts while still on treatment can have a favorable response when treatment is reinstated after a period of discontinued use of a carbonic anhydrase inhibitor.

Visual acuity loss in recessive retinitis pigmentosa and its correlation with macular lesions.

PURPOSE: To determine the visual acuity loss in patients with autosomal recessive retinitis pigmentosa and its relation to the presence of macular lesions. METHODS: A total of 145 patients were included in the visual acuity analysis, and 139 patients were included in the analysis of their macular status. Patients with a history of parental consanguinity or an affected sister and parents unaffected with retinitis pigmentosa were considered as having an autosomal recessive mode of inheritance. RESULTS: Regardless of age, 68 patients (47%) had visual acuity of 20/40 or better, 109 (75%) had better than 20/200 in at least 1 eye, and 36 (25%) had an acuity of 20/200 or worse in both eyes. An evaluation of the macular status demonstrated that 55 patients (39.6%) had no macular lesion and 77 (55.4%) had an atrophic lesion (either bull's-eye or geographic). Seventy-five percent of patients with no macular lesion had a visual acuity of 20/40 or better and 34 patients (44%) with an atrophic lesion had a visual acuity better than 20/70. CONCLUSION: These data can be useful to counsel patients on the potential visual acuity impairment likely to be observed at different ages and identify the association of visual acuity loss with macular changes.

Microperimetry and OCT findings in female carriers of choroideremia.

PURPOSE: To evaluate structural retinal changes and macular function by a combined spectral domain optical coherence tomography/scanning laser ophthalmoscope (OCT/SLO) microperimetry device in choroideremia carriers. METHODS AND MATERIALS: Ten choroideremia carriers were included in the study. All subjects had a complete ophthalmic examination in addition to Goldmann kinetic visual fields, OCT and microperimetry testing on a commercially available Spectral Domain (SD) OCT/SLO combination system. RESULTS: Microperimetry results demonstrated focal areas of threshold abnormalities in 50% of the subjects. OCT findings show subtle retinal pigment epithelium (RPE) irregularities with attenuation more pronounced outside the macular region. CONCLUSIONS: Long term follow up with microperimetric testing could be useful in monitoring any progressive loss of retinal function in choroideremia carriers.

Educational levels in patients with stargardt disease.

PURPOSE: To assess the highest educational level attained by patients with Stargardt disease and clinically significant visual impairment. DESIGN: Cross-sectional assessment. METHODS: Patients with Stargardt disease and clinically significant visual impairment (documented best-corrected visual acuity of 20/70 or worse in each eye either before or up to the age of 22 years) were included in the study. Information concerning the highest level of education attained was obtained for all participants by an interview. RESULTS: Of the 33 participants, 32 completed high school. Either an associate's or bachelor's degree was attained by 21 patients (63.6%), whereas 3 patients (9.1%) were enrolled in college at the time of the interview. Further, a postgraduate degree (master's or doctorate) was attained by 7 patients (21.2%). CONCLUSIONS: Our findings document that the potential for attaining a higher degree of academic education beyond high school does not seem to be precluded by clinically significant visual impairment in Stargardt patients. This information can be useful for visual practitioners when counseling these patients and their families.