Rafael E. Andrade

Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber hereditary optic neuropathy

PURPOSE To conduct systematic epidemiologic, neuro-ophthalmologic, psychophysical, and mitochondrial DNA (mtDNA) genetic examinations on a newly identified pedigree with Leber hereditary optic neuropathy (LHON). DESIGN Observational population cohort study. METHODS A prospective investigation of an entire Brazilian LHON family. SETTING A field investigation by an international team conducted in a remote part of Brazil. STUDY POPULATION We evaluated 265 (both eyes) of the 328 living family members of this LHON pedigree. Only members of this pedigree were studied. Those entering the pedigree as spouses were used as controls. OBSERVATION PROCEDURES We conducted epidemiologic interviews emphasizing possible environmental risk factors, comprehensive neuro-ophthalmologic examinations, psychophysical tests, Humphrey visual field studies, fundus photography, and blood testing for mitochondrial genetic analysis. RESULTS We reconstructed a seven-generation maternal lineage descended from a common ancestor dating to the 1870s. All maternally related family members were invariably homoplasmic 11778 with a haplogroup J mtDNA, 33 being affected, of which 22 are still living. With each subsequent generation, there was a progressive decrease of penetrance, and only males were affected in the last two generations. A significant exposure (greater than 95% confidence intervals) to a variety of environmental risk factors characterized the affected individuals, with smoking as the most common (P <.01). Both affected and carriers (95% confidence intervals) presented with a significantly lower incidence of hypertension and high cholesterol compared with the control group (P <.05). CONCLUSIONS Almost 95% of a 328-living-member pedigree with LHON 11778/J haplogroup was comprehensively studied. Our initial results indicate the strong influence of environmental risk factors. The remarkably reduced incidence of cardiovascular risk in the maternal lineage is discussed. Further genetic analysis may reveal a role for the nuclear genome.

Photodynamic therapy with verteporfin for subfoveal choroidal neovascularization in best disease

PURPOSE To describe the effects of photodynamic therapy using verteporfin for the treatment of subfoveal choroidal neovascularization (CNV) in Best vitelliform macular dystrophy. DESIGN Interventional case report. METHODS A 43-year-old patient with confirmed Best vitelliform macular dystrophy complicated with subfoveal CNV received a single photodynamic therapy session with verteporfin. The patient was prospectively followed with fluorescein angiography and optical coherence tomography. RESULTS A regression of the neovascular lesion and resolution of the exudative manifestations was observed 3 weeks after treatment; at that time, visual acuity had improved from 20/60 to 20/25. Optical coherence tomography disclosed restoration of normal macular architecture due to fluid resolution and lesion contraction. Up to 2 years from this single treatment, no further change was observed. CONCLUSIONS Regression of CNV and resolution of subretinal hemorrhage as well as exudative manifestations occurred after photodynamic therapy with verteporfin. Verteporfin therapy may be a viable treatment for subfoveal neovascular lesions in Best vitelliform macular dystrophy.

Visual Electrophysiologic Findings in Patients From an Extensive Brazilian Family with Leber's Hereditary Optic Neuropathy Visual electrophysiology in LHON

Lebers hereditary optic neuropathy (LHON) is a maternally inherited disease, associated with mitochondrial DNA (mtDNA) point mutations and characterized by bilateral, usually sequential, rapid loss of central vision. The purpose of this study was to investigate electrophysiologically a small cohort of members from an extensive Brazilian family affected by LHON. Pattern-reversal visual evoked potentials (PVEP), and full-field electroretinograms (ERG) were performed on the four index members, all carrying the 11778 homoplasmic mtDNA mutation. They were a 14-year-old recently affected male, his unaffected mother, and her two affected brothers. The three affected members all had bilateral profound visual loss with visual acuities that ranged from 20/250 to CF, cecocentral defects, and severe dyschromatopsia (by FM-100). The unaffected (carrier) female had normal visual acuities, visual fields and color discrimination. Severely prolonged P100 latencies and decreased N75-P100 peak amplitudes were found in pattern-reversal VEPs for three affected members. Normal PVEP responses were found in the carrier female. Rod and cone ERG responses were normal in two affected members, but both the carrier mother and her affected son showed reduced peak-to-peak amplitude for single-flash cone response and 30 Hz flicker, with normal b-wave implicit times. Thus, optic nerve function, evaluated by PVEP, was severely reduced in LHON affected members and normal in the carrier female. However, reduced ERG cone responses suggest that LHON can also affect retinal elements, even in the absence of fundus and other clinical changes that constitute the full and classical expression of LHON.

Optical coherence tomography in presumed subretinal Toxocara granuloma: case report

Our aim was to study optical coherence tomographic findings in a case of Toxocara granuloma. A patient with a cicatricial macular lesion, diagnosed as ocular toxocariasis, was examined with optical coherence tomography. In optical coherence tomography images, the macular granuloma appeared as a highly reflective round mass protruding above the retinal pigment epithelium with two other surrounding masses. Optical coherence tomography may increase understanding of the pathophysiology of the retinal Toxocara granuloma and help in the clinical diagnosis and management of its macular complications.

Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with clinical and genetic heterogeneity. This syndrome was first described by Laurence and Moon in 1866 and additional cases were described by Bardet and Biedl between 1920 and 1922. The main features are obesity, polydactyly, pigmentary retinopathy, learning disabilities, various degrees of intellectual impairment, hypogonadism, and renal abnormalities. Bardet-Biedl syndrome is both phenotypically and genetically heterogeneous. Clinical diagnosis is based on the presence of 4 of the 5 cardinal features. The authors present a typical case of pigmentary retinopathy due to Bardet-Biedl syndrome and made a brief commentary about the diseases cardinal manifestations.

Injeção intravítrea de acetato de triancinolona no tratamento da síndrome de Vogt-Koyanagi-Harada

PURPOSE: To report the use of intravitreal injection of triamcinolone acetonide in the acute phase of Vogt-Koyanagi-Haradas disease. METHODS: Nine eyes from five patients in the acute phase of Vogt-Koyanagi-Haradas disease with serous retinal detachments were treated with a single 4-mg intravitreal injection of triamcinolone acetonide. The following parameters were evaluated: visual acuity, intraocular pressure, as well as the height of the serous retinal detachment using optical coherence tomography. RESULTS: Optical coherence tomography images showed a marked decrease in the retinal detachment in the first week after the injection with subsequent return to normal retinal thickness in all eyes. Follow-up ranged from 5 to 12 months with a mean of 7.8 months. No complications were observed. CONCLUSIONS: Intravitreal triamcinolone acetonide provides short-term improvement in visual acuity and serous retinal detachments associated with Vogt-Koyanagi-Haradas disease. These findings should be followed by further studies to evaluate long-term effects.

Vasculopatia polipoidal idiopática da coróide

Objetivo: Descrever os achados da tomografia de coerencia optica, angiofluoresceinografia e indocianinografia na vasculopatia polipoidal idiopatica da coroide. Metodos: Realizou-se analise criteriosa dos exames complementares de angiofluoresceinografia e indocianinografia, comumente utilizados para o diagnostico, assim como da tomografia de coerencia optica, em quatro olhos de uma serie de tres pacientes com vasculopatia polipoidal idiopatica da coroide. Resultados: Os quatro olhos mostraram lesoes sub-retinianas vermelho-alaranjadas, sendo que dois casos apresentaram descolamento hemorragico do epitelio pigmentado da retina, alem de manifestacoes exsudativas e hemorragicas associadas. A angiofluoresceinografia revelou dilatacoes aneurismaticas em ramificacoes anormais de vasos da coroide em apenas 1 caso, ao contrario da indocianinografia que claramente demonstrou as lesoes em todos os casos. A tomografia de coerencia optica confirmou descolamento hemorragico espontâneo do epitelio pigmentado da retina em 2 casos. Conclusao: A indocianinografia e o exame de escolha no diagnostico da vasculopatia polipoidal da coroide, mas em alguns casos a associacao com a tomografia de coerencia optica e angiofluoresceinografia pode ser util no diagnostico e seguimento.Purpose: To describe the role of the optical coherence tomography, fluorescein and indocyanine green angiography findings in the diagnosis of idiopathic polypoidal choroidal vasculopathy (IPCV). Methods: A series of four eyes of three patients thought to have IPCV were examined and evaluated by optical coherence tomography, fluorescein and indocyanine green angiographies. Results: Fluorescein angiography was highly important for the diagnosis only in case 1. Indocyanine green angiography showed a branching network of the vessels with marginal vascular dilatations in all cases. Optical coherence tomography showed hemorrhagic detachment of the retinal pigment epithelium contiguous with the anterior delimitation of the polypoidal elements in two cases. Conclusion: The association of clinical manifestations with fluorescein and indocyanine green angiographies and optical coherence tomography can be useful in the differential diagnosis of exudative maculopathies, particularly IPCV with serohemorrhagic manifestations.

Triancinolona intravítrea em vasculite retiniana: relato de caso

Os autores relatam o caso de paciente com vasculite retiniana primaria submetida a injecao intravitrea de triancinolona que apresentou melhora da inflamacao e da acuidade visual logo apos o procedimento. Observou-se tambem melhora da neovascularizacao de iris e de papila, porem houve surgimento de tracao vitreo-retiniana na area macular com o passar do tempo, levando a discreta piora da visao. Os autores discutem tambem as acoes da triancinolona sobre a inflamacao e a angiogenese, assim como os efeitos colaterais encontrados nesta paciente.