RESUMO
PurposeTo analyze the relation between ophthalmologic and motor changes in spinocerebellar ataxia type 7 (SCA7).Patients and methodsThis was a case series study. Sixteen SCA7 patients underwent a comprehensive ophthalmic examination, including ocular extrinsic motility testing, color vision test, and optical coherence tomography of the optic nerve and macula. Changes in the corneal endothelium, electroretinographic patterns, and a complete neurologic evaluation using the Scale for the Assessment and Rating of Ataxia (SARA) were evaluated. Correlations of endothelial cell density (ECD) with number of CAG repetitions and the SARA scores were estimated.ResultsAll patients showed various degrees of visual impairment mainly due to macular deterioration. Notably, they also presented decreased ECD. Pairwise correlations of ECD with number of CAG repeats and severity of motor symptoms quantified with the SARA scores were inverse (r=-0.46, P=0.083 and r=-0.64, P=0.009, respectively). Further analyses indicated an average ECD decrease of 48 cells/mm2 (P=0.006) per unit of change on the number of CAG repeats, and of 75 cells/mm2 (P=0.001) per unit of change on the SARA scores.ConclusionsThe results agree with previous ophthalmological findings regarding the widespread effect of SCA7 mutation on the patient's visual system. However, the results also show a significant negative correlation of decreased ECD with both CAG repetitions and SARA scores. This suggests that motor systems could degenerate in parallel with visual systems, although more research is needed to determine whether the degeneration is caused by the same mechanisms.
Assuntos
Segmento Anterior do Olho/diagnóstico por imagem , Visão de Cores , Oftalmopatias/diagnóstico , Ataxias Espinocerebelares/complicações , Acuidade Visual , Adulto , Idoso , Topografia da Córnea , Eletrorretinografia , Oftalmopatias/etiologia , Oftalmopatias/genética , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Índice de Gravidade de Doença , Ataxias Espinocerebelares/diagnóstico , Ataxias Espinocerebelares/genética , Tomografia de Coerência Óptica , Adulto JovemRESUMO
PURPOSE: To describe the ultrasound biomicroscopic (UBM) features and complications associated with iris cysts. DESIGN: A retrospective case series. METHODS: Thirteen patients with iris cysts were identified in a 10 year period study at a ophthalmologic reference Center in Mexico City. The variables included demographic data, ocular and medical history, clinical course, and complications. All patients were examined by UBM, and type, number, location, and acoustic characteristics of cysts were evaluated. Descriptive statistics were performed. RESULTS: Thirteen patients were included (8 men and 5 women). The mean age was 44.5 ± 15.5 years (range 6-70 years). The origin most prevalent was neuroepithelial (92.3%), and 7.7% had stromal cysts. Regarding to location 76.9% were found in the periphery, and 69.2% between meridians II and VI. All cysts showed a moderate to high reflectivity in the wall. Complications were present in 38.5% of cases (15.4% partial angle closure, 15.4% secondary angle closure glaucoma and 7.7% dyscoria). CONCLUSIONS: Most cysts are derived from iris pigmented epithelium, with a benign course and a minor rate of complications. The UBM is an indispensable tool that allows us to plan more specific and conservative treatments, with less damage to ocular structures and, therefore, better visual prognosis.