ObjectiveTo observe the morphologic characteristics of drusen in atrophic age-related macular degeneration (AMD) by spectral domain optical coherence tomography (SD-OCT). MethodsFifty-four patients (84 eyes) with macular drusen and atrophic AMD, and 56 age-matched control patients (56 eyes) with cataract were included in this study. Atrophic AMD patients were divided into two groups: D1 group with drusen involving the fovea (42 eyes) and D2 group with drusen not involving the fovea (42 eyes). The SD-OCT images in macular (6 mm×6 mm scans) were acquired, and the foveal retinal thickness (FRT) was measured. The size, morphology, inner reflection, homogeneity of drusen and its relationship with surrounding tissues were analyzed. ResultsThe FRT of D1 group, D2 group and control group were (160.90±38.47), (194.21±26.11), (222.42±19.29) μm respectively. The FRT of D1 group and D2 group were thinner than that of control group (F=57.08, P=0.00). Totally 1124 drusen were found by SD-OCT images in 84 eyes, with an average of 10.84 drusen in each eye. 3.0%, 12.5% and 84.5% of all 1124 drusen were small, medium and large sized respectively. 56.6%, 14.2%, 20.4% and 8.8% of all drusen were dome, pointed, saw-toothed and basal-shaped respectively. 17.1%, 57.5% and 25.4% of all drusen had low, medium and high internal reflectivity respectively. The internal reflectivity of 65.6%, 2.8% and 31.7% of all drusen were homogeneous, nonhomogeneous with core, and nonhomogeneous without core respectively. Overlying retinal pigment epithelium (RPE) damage and photoreceptor inner segment/outer segment (IS/OS) junction damage were presented in 34.5% and 24.8% drusen respectively. The most common type of drusen was dome-shape, homogeneous, with medium internal reflectivity, and without overlying RPE or IS/OS junction damage (81.0%). ConclusionsThe FRT becomes thinner in patients with drusen. The most common drusen types are dome-shaped, homogeneous, with medium internal reflectivity, and without overlying RPE or IS/OS junction damage.
ObjectiveTo evaluate the repeatability and reproducibility of macular ganglion cell-inner plexiform layer (GCIPL) thickness measurement using spectral-domain optical coherence tomography (Cirrus HD-OCT). MethodOne hundred and eight eyes of 54 normal subjects (26 males and 28 females) between 19 and 75 years of age were included. Each eye underwent macular scanning using Cirrus HD-OCT Macular Cube 512×128 protocol by two operators. Three scans of each eye were obtained by each operator. For the right eye of each subject, three extra scans were obtained using Macular Cube 200×200 protocol by one operator. The average, minimum, superotemporal, superior, superonasal, inferonasal, inferior, and inferotemporal GCIPL thickness was analyzed and the repeatability of GCIPL thickness measurement was evaluated with intra-operator, inter-operator, intra-protocol, and inter-protocol intraclass correlation coefficients (ICC). Ten extra scans were obtained from the left eyes of 10 randomly selected subjects for reproducibility assessment with coefficients of variation (CV). ResultsThe intra-operator ICC of macular GCIPL measurement using Macular Cube 512×128 protocol by two operators were 0.959-0.995 and 0.954-0.997, respectively; and the inter-operator ICC were 0.944-0.993. All intra-and inter-operator ICC were > 0.800 with the highest and lowest records of the average and minimum GCIPL thickness, respectively. The intra-protocol ICC of Macular Cube 512×128 protocol and Macular Cube 200×200 protocol were 0.986-0.996 and 0.927-0.997, respectively; and the inter-protocol ICC were 0.966-0.994. All intra-and inter-protocol ICC were > 0.800. CV of GCIPL thickness measurement using Macular Cube 512×128 protocol were (0.70±0.31)%-(1.35±0.86)%. ConclusionCirrus HD-OCT can measure macular GCIPL thickness in normal eyes with excellent repeatability and reproducibility.
Objective To analyze the BEST1 gene mutations and clinical features in patients with multifocal vitelliform retinopathy (MVR). Methods This is a retrospective case series study. Five MVR families with MVR, including 9 patients and 10 healthy family members were recruited. Clinical evaluations were performed in all MVR patients and their family members, including best-corrected visual acuity (BCVA), intraocular pressure (IOP), refraction, slit-lamp examination, 90 D preset lens examination, gonioscopy, color fundus photography, optical coherence tomography (OCT), fundus autofluorescence (AF), ultrasound biomicroscopy (UBM) and axial length measurement. Electro-oculogram (EOG) was performed in 12 eyes and visual field were performed in 13 eyes. Peripheral blood samples were collected in all subjects to extract genomic DNA. Coding exons and flanking intronic regions of BEST1 were amplified by polymerase chain reaction and analyzed by Sanger sequencing. Results Among the 5 MVR families, 3 probands from three families had family history, including 1 family had autosomal dominant inheritance pattern. Two patients from 2 families were sporadic cases. Screening of BEST1 gene identified four mutations, including three missense mutations (c.140G>T, p.R47L; c.232A>T, p.I78F; c.698C>T, p.P233L) and 1 deletion mutation (c.910_912del, p.D304del). Two mutations (p.R47L and p.I78F) were novel. The BCVA of affected eyes ranged from hand motion to 1.0. The mean IOP was (30.39±11.86) mmHg (1 mmHg=0.133 kPa). The mean refractive diopter was (-0.33±1.68) D. Twelve eyes had angle-closure glaucoma (ACG) and 4 eyes had angle closure (AC). EOG Arden ratio was below 1.55 in all patients. The mean anterior chamber depth was (2.17±0.29) mm. Visual field showed defects varied from paracentral scotoma to diffuse defects. The mean axial length was (21.87±0.63) mm. All MVR patients had multifocal vitelliform lesions in the posterior poles of retina. ACG eyes demonstrated pale optic disc with increased cup-to-disc ratio. OCT showed retinal edema, extensive serous retinal detachment and subretinal hyper-reflective deposits which had high autofluorescence in AF. The genetic testing and clinical examination were normal in 10 family members. Conclusions MVR patients harbored heterozygous mutation in the BEST1 gene. Two novel mutations (p.R47L and p.I78F) were identified. These patients had clinical features of multifocal vitelliform retinopathy and abnormal EOG. Most patients suffered from AC/ACG.