New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.

Warburg Micro Syndrome is a rare, autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. We have found five new mutations in the RAB3GAP1 gene in seven patients with suspected Micro Syndrome from families with Turkish, Palestinian, Danish, and Guatemalan backgrounds. A thorough clinical investigation of the patients has allowed the delineation of symptoms that are consistently present in the patients and may aid the differential diagnosis of Micro Syndrome for patients in the future. All patients had postnatal microcephaly, micropthalmia, microcornia, bilateral congenital cataracts, short palpebral fissures, optic atrophy, severe mental retardation, and congenital hypotonia with subsequent spasticity. Only one patient had microcephaly at birth, highlighting the fact that congenital microcephaly is not a consistent feature of Micro syndrome. Analysis of the brain magnetic resonance imagings (MRIs) revealed a consistent pattern of polymicrogyria in the frontal and parietal lobes, wide sylvian fissures, a thin hypoplastic corpus callosum, and increased subdural spaces. All patients were homozygous for the mutations detected and all mutations were predicted to result in a truncated RAB3GAP1 protein. The analysis of nine polymorphic markers flanking the RAB3GAP1 gene showed that the mutation c.1410C>A (p.Tyr470X), for which a Danish patient was homozygous, occurred on a haplotype that is shared by the unrelated heterozygous parents of the patient. This suggests a possible founder effect for this mutation in the Danish population.

Comparison of retinal nerve fiber layer measurements using Stratus OCT fast and regular scan protocols in eyes with band atrophy of the optic nerve and normal controls.

PURPOSE: To compare retinal nerve fiber layer (RNFL) measurements made with two different protocols of optical coherence tomography in eyes with band atrophy (BA) of the optic nerve and controls. METHODS: Twenty-nine eyes with BA from chiasmal compression and 30 normal eyes underwent RNFL scans using both the fast (256 A-scans) and the regular (512 A-scans) protocols. The two sets of measurements were compared. RESULTS: In eyes with BA, fast RNFL measurements were significantly greater compared with regular RNFL measurements in the superior and inferior quadrants and significantly smaller at the 30-degree segments located at the 3 and 6 o'clock meridians. In normal eyes, fast RNFL measurements of the total average, superior and inferior quadrants and the segments corresponding to the 1, 3, 4 and 12 o'clock meridians were significantly greater than regular protocol measurements. Measurements with both protocols were significantly different in eyes with BA compared to normal eyes. CONCLUSIONS: Although both fast and regular RNFL measurements were equally efficient at differentiating eyes with BA from controls the fast protocol yielded greater values in areas with thick RNFL and smaller values in areas with thin RNFL when compared with the regular scanning protocol. One should be aware of such differences when comparing measurements with both scanning protocols.

Comparison of retinal nerve fiber layer measurements using Stratus OCT fast and regular scan protocols in eyes with band atrophy of the optic nerve and normal controls / Comparação das medidas da camada de fibras nervosas retinianas realizadas com os protocolos "fast" e "regular" do Stratus OCT em olhos com atrofia em banda do nervo óptico e controles normais

PURPOSE: To compare retinal nerve fiber layer (RNFL) measurements made with two different protocols of optical coherence tomography in eyes with band atrophy (BA) of the optic nerve and controls. METHODS: Twenty-nine eyes with BA from chiasmal compression and 30 normal eyes underwent RNFL scans using both the fast (256 A-scans) and the regular (512 A-scans) protocols. The two sets of measurements were compared. RESULTS: In eyes with BA, fast RNFL measurements were significantly greater compared with regular RNFL measurements in the superior and inferior quadrants and significantly smaller at the 30-degree segments located at the 3 and 6 o'clock meridians. In normal eyes, fast RNFL measurements of the total average, superior and inferior quadrants and the segments corresponding to the 1, 3, 4 and 12 o'clock meridians were significantly greater than regular protocol measurements. Measurements with both protocols were significantly different in eyes with BA compared to normal eyes. CONCLUSIONS: Although both fast and regular RNFL measurements were equally efficient at differentiating eyes with BA from controls the fast protocol yielded greater values in areas with thick RNFL and smaller values in areas with thin RNFL when compared with the regular scanning protocol. One should be aware of such differences when comparing measurements with both scanning protocols.

OBJETIVO: Comparar as medidas da camada de fibras nervosas da retina (CFNR) realizada com dois protocolos de exame da tomografia de coerência óptica (TCO) em olhos com atrofia em banda (AB) do nervo óptico e controles. MÉTODOS: Vinte nove olhos com AB e 30 olhos normais foram submetidos a TCO utilizando tanto o protocolo "fast" (256 scans A) como o "regular" (512 scans A). As medidas foram comparadas. RESULTADOS: Em olhos com AB, as medidas da CFNR com o protocolo "fast" foram significativamente maiores do que aquelas do protocolo "regular" nos quadrantes superior e inferior e significativamente menores nos segmentos de 30 graus localizados nos meridianos correspondentes às 3 e 6 horas. Nos olhos normais, as medidas com o protocolo "fast" correspondentes à média global, aos quadrantes superior e inferior e aos segmentos de 30 graus correspondentes aos meridianos situados à 1, 3, 4 e 12 horas foram significativamente maiores do que aquelas do protocolo "regular". As medidas com os dois protocolos foram significativamente diferentes em olhos com AB quando comparados aos olhos normais. CONCLUSÕES: Embora as medidas obtidas tanto com o protocolo "fast" como com o "regular" tenha sido igualmente eficientes na diferenciação de olhos com AB dos normais, o protocolo "fast" forneceu valores maiores em áreas com CFNR mais espessas, e menores em áreas com CFNR mais finas quando comparados com o protocolo "regular". Deve-se estar atento a estas diferenças quando se comparam as medidas obtidas com os dois protocolos de exame.

Comparison of retinal nerve fibre layer measurements using optical coherence tomography versions 1 and 3 in eyes with band atrophy of the optic nerve and normal controls.

AIMS: To compare retinal nerve fibre layer (RNFL) measurements were carried out with two different versions of an optical coherence tomography device in patients with band atrophy (BA) of the optic nerve and in normal controls. METHODS: The RNFL of 36 eyes (18 with BA and 18 normals) was measured using an earlier version of an optical coherence tomography device (OCT-1). The measurements were repeated using a later version of the same equipment (OCT-3), and the two sets of measurements were compared. RESULTS: Using OCT-1, the peripapillary RNFL thickness (mean+/-SD, in microm) in eyes with BA measured 80.42+/-6.94, 99.81+/-14.00, 61.69+/-13.02, 101.70+/-12.54, and 57.36+/-16.52 corresponding to the total RNFL average, superior, temporal, inferior, and nasal quadrants, respectively. Using OCT-3, the corresponding measurements were 63.11+/-6.76, 81.22+/-13.34, 39.50+/-8.27, 86.72+/-15.16, and 45.05+/-8.03. Each of these measurements was significantly smaller with OCT-3 than with OCT-1. In normal eyes, RNFL average and temporal quadrant OCT-3 values were significantly smaller than OCT-1 values, but there was no significant difference in measurements from the superior, inferior, and nasal quadrant. CONCLUSIONS: RNFL measurements were smaller with OCT-3 than with OCT-1 for almost all parameters in eyes with BA and in the global average and temporal quadrant measurements in normal eyes. Investigators should be aware of this fact when comparing old RNFL measurement with values obtained with later versions of the equipment.

Evaluation of the etiology of ocular globe atrophy or loss

Este estudo investigou a etiologia dos casos de atrofia e perda do globo ocular em pacientes atendidos no ambulatório de prótese buco-maxilo-facial de duas Faculdades de Odontologia do estado de São Paulo. Um total de 238 pacientes e seus prontuários foram examinados, e a etiologia e incidência dos casos de atrofia e perda do globo ocular foram avaliados considerando gênero, faixa etária, lado afetado e tipo de cirurgia oftalmológica realizada. As perdas por etiologia traumática foram as de maior incidência (57,14%), seguidas das perdas por etiologia patogênica (36,13%) e com menor incidência para as perdas por causas congênitas (5,04%). Comparando-se os gêneros, houve predominância da população masculina (61.76%; p<0,01). A faixa etária mais freqüentemente atingida foi a de 21 a 40 anos (42.01%; p<0,01). Em todas as etiologias estudadas, a cirurgia mais empregada para remoção do globo ocular foi a enucleação (66.38%; p<0,01). Houve predominância da perda do globo ocular do lado esquerdo (55.04%), mas não houve diferença estatisticamente significante.

Optical coherence tomography analysis of axonal loss in band atrophy of the optic nerve.

AIMS: To measure axonal loss in patients with band atrophy of the optic nerve caused by optic chiasm compression using optical coherence tomography and to evaluate its ability in identifying this pattern of retinal nerve fibre layer (RNFL) loss. METHODS: Twenty eyes from 16 consecutive patients with band atrophy of the optic nerve and permanent temporal hemianopia due to chiasmal compression, and 20 eyes from an age and sex matched control group of 16 healthy individuals, were studied prospectively. All patients were submitted to an ophthalmic examination including perimetry and evaluation of the RNFL using optical coherence tomography. Mean RNFL thickness around the optic disc was compared between the two groups. RESULTS: The mean (SD) peripapillary RNFL thickness of eyes with band atrophy was 101.00 (9.89) microm, 62.21 (12.71) microm, 104.89 (12.60) microm, and 50.13 (16.88) microm in the superior, temporal, inferior, and nasal regions, respectively. The total RNFL mean was 79.94 (7.17) microm. In the control group, the corresponding values were 140.10 (16.06) microm, 86.50 (12.17) microm, 144.60 (15.70) microm, and 97.94 (16.02) microm. The total RNFL mean was 117.72 (9.53) microm. The measurements were significantly different between the two groups. Measurements in each of twelve 30 degrees divisions provided by the equipment also showed significantly different values between eyes with band atrophy and normal controls. CONCLUSIONS: Optical coherence tomography was able to identify axonal loss in all four quadrants as well as in each of the twelve 30 degrees segments of the disc. Thus, it seems to be a promising instrument in the diagnosis and follow up of neuro-ophthalmic conditions responsible for RNFL loss, even if predominantly in the nasal and temporal areas of the optic disc.

Quantitative analysis of axonal loss in band atrophy of the optic nerve using scanning laser polarimetry.

AIMS: To measure axonal loss in patients with band atrophy from optic chiasm compression using scanning laser polarimetry (GDx, Laser Diagnostic Technologies, Inc, San Diego, CA, USA) and to evaluate the ability of this instrument to identify this pattern of retinal nerve fibre layer (RNFL) loss. METHODS: 19 eyes from 17 consecutive patients with band atrophy of the optic nerve and permanent temporal hemianopia due to chiasmal compression, and 19 eyes from an age and sex matched control group of 17 healthy individuals were prospectively studied. All patients were submitted to an ophthalmic examination including Goldmann perimetry and evaluation of the RNFL using scanning laser polarimetry. Mean RNFL thickness around the optic disc were compared between the two groups. The diagnostic performance of the deviation from normal analysis provided by the GDx software was also assessed. RESULTS: The peripapillary RNFL thickness (mean (SD)) of eyes with band atrophy was 47.9 (7.63) micro m, 37.1 (8.48) micro m, 57.0 (9.31) micro m, and 37.2 (8.86) micro m in the superior, temporal, inferior, and nasal regions, respectively. The total average was 43.7 (12.0) micro m. In the control group, the corresponding values were 71.1 (12.2) micro m, 40.4 (10.9) micro m, 85.4 (14.0) micro m, and 49.8 (10.1) micro m. The total average measured 67.9 (11.2) micro m. The measurements from eyes with optic atrophy were significantly different from those in the control group in all regions but the temporal. The deviation from normal analysis provided by the GDx software failed to identify the majority of abnormalities in the temporal and nasal regions of patients with band atrophy. CONCLUSIONS: Scanning laser polarimetry was able to identify axonal loss in the superior, inferior, and nasal regions, but failed to detect it in the temporal region of the optic disc, despite the fact that this area was clearly altered in eyes with band atrophy. This examination also showed poor sensitivity to detect axonal loss in the nasal region when GDx software analysis was used. The results of this study emphasise that RNFL evaluation using scanning laser polarimetry should be interpreted with caution in the study of eye diseases that lead to axonal loss predominantly in the nasal and temporal areas of the optic disc.

Análise com Heidelberg Retina Tomograph da espessura da camada de fibras nervosas retinianas e do volume de escavaçäo papilar em zonas alfa e beta de atrofia para-papilar em pacientes glaucomatosos / An analysis with Heidelberg Retina Tomograph of the density of retinal fiber layers and of papilar cup volume in the alpha and beta zones of parapapillary athophy in glaucoma patients

Objetivo: Analisar e descrever os achados esteriométricos do disco óptico e da camada de fibras nervosas retiniadas em pacientes com zonas de atrofia para-papilar alfa e beta.Local: Serviço de Oftalmologia da clínica Dr.Fracoso Borges, Petrópolis, RJ.Material e métodos: Realizamos o exame de tomografia óptica neuroretiniana com Heidelberg Retina Tomograph(HRT) em dezesseis olhos com e sem área de atrofia para-papilar.Resultados: Observamos o aumento da média do volume de escavaçäo papilar e a diminuiçäo da média da espessura das fibras retiniadas nos olhos com presença de zona alfa e beta de atrofia para-papilar em relaçäo ao grupo controle com glaucoma.a amostragem näo evidenciou alteraçöes estatisticamente significativas entre os sois grupos.Conclusäo: O HRT revelou-se um exame preciso para detectar as alteraçöes da camada das fibras nervosas retinianas nos pacientes glaucomatosos com zonas de atrofia para-papilar, acrescido da importância de analisar simultaneamente as alteraçöes topográficas papilares.

Manifestaciones oftalmológicas en el SIDA / Ocular manifestations in AIDS

Durante un año fueron estudiados 61 pacientes consecutivos VIH positivos, con el fin de establecer la prevalencia de las manifestaciones oftalmológicas. 29 pacientes estaban en el estadio de SIDA (IV de la clasificación CDC) y 32 eran portadores asintomaticos. En la primera evaluación, se encontro compromiso oftalmológico en 15 de 29 pacientes con SIDA (51.72 por ciento); siendo los hallazgos:microangiopatia retinal no infecciosa 27.6 por ciento, infecciones oportunisticas 20.68 por ciento; Sarcoma de Kaposi 3.44 por ciento y Atrofia optica en 3.44 por ciento. De las infecciones oportunisticas encontradas en la primera visita, la mas importante fue la retinitis por citomegalovirus (CMV) en 10.34 por ciento. En portadores asintomaticos, uno presento microangiopatia retinal no infecciosa con presencia de manchas algodonosas retinales (3.1 por ciento). En el seguimiento de los pacientes con SIDA cuyo examen inicial era normal, 2 desarrollaron microangiopatia y 3 retinitis por CMV; mientras que de los pacientes que al inicio tenian microangiopatia retinal, 5 desarrollaron retinitis por CMV en la evolución. Tambien se observo un nuevo caso de Sarcoma de Kaposi conjuntival y uno de paralisis del VI par craneal y papilitis. Al termino de este estudio habiamos acumulado 9 casos de retinitis por CMV (31 por ciento) y compromiso oftalmológico en 19 de 29 pacientes con SIDA (65.51 por ciento). De los 32 portadores asintomaticos, uno desarrollo retinitis por CMV, debutando como SIDA con una manifestación ocular. Se concluye que elcompromiso oftalmológico en el SIDA es importante, por lo que es necesario un adecuado seguimiento oftalmológico en esta población