Choroidal findings in Bietti's crystalline dystrophy.

PURPOSE: To describe the choroidal findings in a patient with Bietti's crystalline dystrophy. METHODS: A 43-year-old woman with Bietti's crystalline dystrophy underwent a complete ophthalmologic examination including enhanced depth imaging spectral domain optical coherence tomography and en face optical coherence tomography. RESULTS: We observed a severe thinning of the choroid, 123 µm in the right eye and 110 µm in the left eye. Crystal deposits were found not only in the retina but also in the choroid. En face optical coherence tomography clearly showed the intraretinal crystals as small hyperreflective dots in the different retinal layers and in the choroid. CONCLUSION: Our study gives new information on the aspect and the location of crystal deposits in the choroid and the abnormalities of the outer retina associated with the disease.

Preferential hyperacuity perimeter in best vitelliform macular dystrophy.

PURPOSE: To determine the visual field patterns obtained by the preferential hyperacuity perimetry (PHP) in patients with Best vitelliform macular dystrophy with mutations in the BEST1 gene. METHODS: Consecutive patients with Best vitelliform macular dystrophy underwent a complete ophthalmologic examination, including functional assessment by best-corrected visual acuity and Foresee PHP and morphologic assessment by fundus biomicroscopy, fundus autofluorescence, and spectral-domain optical coherence tomography. The functional "PHP visual field defect index" (which is the max peak value of the metamorphopsia [maximal distortion value at the visual field] + the max peak value of the scotoma [maximal scotoma value at the visual field]) and best-corrected visual acuity were analyzed about the disease stage. RESULTS: Thirty eyes of 15 consecutive patients (8 men and 7 women; mean age 39 ± 24 years) were included for analysis. Based on fundus biomicroscopy, fundus autofluorescence, and spectral-domain optical coherence tomography, the macular lesions could be counted as follows: previtelliform lesions in 5 eyes of 3 patients (Stage 1), vitelliform lesions in 2 eyes of 2 patients (Stage 2), pseudohypopyon lesions in 6 eyes of 5 patients (Stage 3), vitelliruptive lesions in 4 eyes of 3 patients (Stage 4), atrophic lesions in 7 eyes of 5 patients (Stage 5), and fibrotic lesions in 6 eyes of 4 patients (Stage 6). Best-corrected visual acuity and PHP visual field defect index were averaged for each stage. Best-corrected visual acuity showed a good correlation (P = 0.01) with the morphologic severity (stage) of the disease (Pearson correlation = -0.88). Similarly, the PHP visual field defect index showed a good correlation (P = 0.03) with the morphologic severity (stage) of the disease (Pearson correlation = 0.78). Finally, best-corrected visual acuity showed a good correlation (P = 0.02) with the functional PHP visual field defect index (Pearson correlation = -0.83) about the morphologic stage of the disease. CONCLUSION: Preferential hyperacuity perimetry could be considered an adjunctive useful tool in the evaluation of functional impairment and disease progression in patients with Best vitelliform macular dystrophy.

Analysis of retinal flecks in fundus flavimaculatus using high-definition spectral-domain optical coherence tomography.

PURPOSE: To assess morphologic changes associated with retinal flecks in fundus flavimaculatus using spectral-domain optical coherence tomography (SD-OCT). DESIGN: Observational case series. METHODS: Simultaneous recordings of SD-OCT and confocal scanning laser ophthalmoscope (cSLO) fundus autofluorescence images were obtained in fundus flavimaculatus patients. Morphologic aspects of the retinal flecks were analyzed and classified. RESULTS: Thirty-one eyes of 17 consecutive patients (8 male, 9 female; mean age 47.9 +/- 17.1 years) were included for analysis. SD-OCT revealed 5 distinct types of lesions. Group A lesions were limited to the outer segment (OS) of the photoreceptors, the retinal pigment epithelium (RPE) interdigitations, and the RPE/Bruch membrane complex. Group B showed a protrusion of the hyper-reflective material through the interface of inner segment (IS)/OS of the photoreceptors up to the external limiting membrane. A further protrusion of the hyper-reflective material into the outer nuclear layer was seen in group C lesions. Group D lesions were characterized by an accumulation of the hyper-reflective material limited to the outer nuclear layer. Type E lesions can be described as drusen-like retinal pigment detachments. No significant correlation between the different types of flecks and visual acuity was observed (P > .05). CONCLUSIONS: SD-OCT allows one to distinguish at least 5 different types of lesions associated with retinal flecks in fundus flavimaculatus. The ability to characterize the different types of flecks and to analyze the photoreceptor layers surrounding these lesions suggests that SD-OCT might have a potential clinical role in the evaluation and follow-up of the structural changes in fundus flavimaculatus.

In-Vivo Visualization of Retinal Crystals in Bietti's Crystalline Dystrophy by Spectral Domain Optical Coherence Tomography.

In this study, an attempt is made to assess in-vivo, the location of retinal crystals in a 39-year-old woman with Bietti's crystalline dystrophy using spectral domain optical coherence tomography (Spectralis SD-OCT). In this patient, it was possible to show the exact correspondence between the retinal crystals, as visualized by infrared frame, and the tiny hyper-reflective SD-OCT lesions that appeared localized in all retinal layers, from the RPE to the retinal nerve fibre layer.