Search

Purpose: To describe in detail the retinal phenotype of LAMP2-associated Danon disease., Methods: Three LAMP2-positive patients from two unrelated families were studied with spectral-domain optical coherence tomography and with short-wavelength and near-infrared fundus autofluorescence (FAF) imaging. Visual function was measured with full-field electroretinography and chromatic perimetry. A patient with choroideremia was also studied for comparison., Results: A 45-year-old LAMP2-heterozygous woman, her 21-year-old hemizygous son, and an unrelated heterozygous 60-year-old woman had normal visual acuities. Central spectral-domain optical coherence tomographies were grossly normal in the younger two patients (mother and son). The oldest patient showed a tenuous interdigitation signal, interruptions of the inner segment ellipsoid zone band, and parafoveal outer nuclear layer thinning. Quantitatively, all patients had shorter than normal ellipsoid zone to retinal pigment epithelium distance in pericentral retina, normal at the foveola. A speckled hypoautofluorescence pattern on short-wavelength FAF contrasted with grossly abnormal near-infrared FAF in the heterozygous carriers. The oldest patient had reduced full-field electroretinography amplitudes (to ∼50% of normal) for rod- and cone-mediated responses and her perimetry showed severe rod dysfunction but substantial cone function. A disproportionate loss of the near-infrared FAF compared with the short-wavelength FAF, predominantly outer segment changes, and severe rod dysfunction with preserved cone function was similarly documented in a 9-year-old choroideremia hemizygous patient., Conclusion: A disproportionate loss of the near-infrared FAF signal compared with the short-wavelength FAF signal, outer segment abnormalities, and severe rod dysfunction but relatively preserved cone vision suggests a stereotypical pattern of primary retinal pigment epithelial or parallel retinal pigment epithelial + photoreceptor disease in Danon disease.

Purpose : To provide a detailed ophthalmic phenotype of two male patients with Bardet-Biedl Syndrome (BBS) due to mutations in the BBS7 gene Methods : Two brothers ages 26 (Patient 1, P1) and 23 (P2) underwent comprehensive ophthalmic evaluations over three years. Visual function was assessed with full-field electroretinograms (ffERGs), kinetic and chromatic perimetry, multimodal imaging with spectral domain optical coherence tomography (SD-OCT), fundus autofluorescence (FAF) with short- (SW) and near-infrared (NIR) excitation lights and adaptive optics scanning light ophthalmoscopy (AOSLO). Results : Both siblings had a history of obesity and postaxial polydactyly; P2 had diagnoses of type 1 Diabetes Mellitus, Addison's disease, high-functioning autism-spectrum disorder and -12D myopia. Visual acuities were better than 20/30. Kinetic fields were moderately constricted. Cone-mediated ffERGs were undetectable, rod ERGs were ~80% of normal mean. Static perimetry showed severe central cone and rod dysfunction. Foveal to parafoveal hypoautofluorescence, most obvious on NIR-FAF, co-localized with outer segment shortening/loss and outer nuclear layer thinning by SD-OCT, and with reduced photoreceptors densities by AOSLO. A structural-functional dissociation was confirmed for cone- and rod-mediated parameters. Worsening of the above abnormalities was documented by SD-OCT and FAF in P2 at 3 years. Gene screening identified compound heterozygous mutations in BBS7 (p.Val266Glu: c.797 T > A of maternal origin; c.1781_1783delCAT, paternal) in both patients. Conclusions : BBS7 -associated retinal degeneration may present as a progressive cone-rod dystrophy pattern, reminiscent of both the murine and non-human primate models of the disease. Predominantly central retinal abnormalities in both cone and rod photoreceptors showed a structural-functional dissociation, an ideal scenario for gene augmentation treatments.

Child pornography on the internet is one of the crimes with highest increasing incidence worldwide. In this specific type of crime, the victim's age has important legal implications. To overcome the lack of scientifically established protocols, European researchers explored and proposed a set of facial proportions obtained from images to estimate age. Within a validation scope, the present study aimed to test the applicability of morphological proportions from frontal photographs of the face to estimate age in a Brazilian population. Standardized frontal view photographs from 800 Brazilians (400 females and 400 males) homogeneously distributed in 4 age groups (6, 10, 14 and 18 years ± 30 days) were randomly selected from a Civilian Database of the Brazilian Federal Police. The selected images were analyzed with the aid of cephalometric landmarks. After landmarking the photographs, eighteen metric relations pre-established by Cattaneo et al. (C. Cattaneo, Z. Obertová, M. Ratnayake, L. Marasciuolo, J. Tutkuviene, P. Poppa, D. Gibelli, P. Gabriel, S. Ritz-Timme, Can facial proportions taken from images be of use for ageing in cases of suspected child pornography? A pilot study, Int. J. Leg. Med. 126 2012 139-144) were assessed and analyzed through parametric statistical tests and discriminant analysis. Two indexes had a moderate correlation with age, while ten had a weak correlation and six were not correlated with age. Eleven indexes were statistically different between sexes (p < 0.05). The discriminant analysis showed that 49.6% of the pooled sample was correctly classified into the respective age group. This percentage increased when each sex was analyzed separately: 50.2% for females and 53.5% for males. The set of facial proportions from frontal images proposed by Cattaneo et al. (2012) is related to facial development. As expected, the discriminant power of this approach did not reach optimal effectiveness in the Brazilian sample. In practice, this age estimation method must be adapted for more reliable application in Brazilians., (Copyright © 2019 Elsevier B.V. All rights reserved.)