Sessão de Encontro com o Autor – Tema Livre


Código

P068

Área Técnica

Genética

Instituição onde foi realizado o trabalho

  • Principal: Hospital de Clínicas de Porto Alegre
  • Secundaria: Universidade Federal do Rio Grande do Sul (UFRS)

Autores

  • PIETRO BAPTISTA DE AZEVEDO (Interesse Comercial: NÃO)
  • Anastácia Guimarães (Interesse Comercial: NÃO)
  • Gabriela Bolzan (Interesse Comercial: NÃO)
  • Camila Oliveira (Interesse Comercial: NÃO)
  • Jonas Alex Saute (Interesse Comercial: NÃO)
  • Marcelo Krieger Maestri (Interesse Comercial: NÃO)
  • Alessandro Filkensztejn (Interesse Comercial: NÃO)
  • Maria Luiza Saraiva-Pereira (Interesse Comercial: NÃO)
  • Laura Bannach Jardim (Interesse Comercial: NÃO)

Título

NEUROLOGICAL AND OPHTHALMOLOGICAL CHARACTERISTICS OF A CASE SERIES OF CARRIERS OF SPINOCEREBELLAR ATAXIA TYPE 7 (SCA 7)

Objetivo

To describe the neurological and ophthalmological findings in a case series of symptomatic (Scarriers) and asymptomatic carriers (Acarriers) of SCA 7 - rare SCA that stands out from other SCA by the appearance of a retinal dystrophy with progressive loss of central vision.

Método

Scarriers and their at 50% risk relatives were evaluated by ataxia (SARA, CCFS, PATA and 8-MW) and neurological scores (NESSCA and INAS); a visual functioning questionnaire (NEI-FVQ 25); evaluation of visual acuity (VA), average loss of vision in Humphrey automated campimetry (ALVC) and macular thickness in swept source optical coherence tomography (SS-OCT). Molecular analysis of the ATXN7 was done blindly.

Resultado

Six carriers were studied up to now: 2 were Acarriers. Ages and CAGexp of S and Acarriers were 29-58 and 24-27 years of age (yo), and 39-44 and 39 repeats. Mean of age at onset of gait ataxia (AO) and disease duration (DD), among Scarriers, were 34.25 yo and 12.5 years. Completely separated profiles were obtained between S and Acarriers. Mean of ALVC obtained in S and Acarriers were -13.35dB and -1.99dB. One Acarrier already presented losses in visual fields and a borderline macular thickness in SS-OCT. After that, we looked for correlations (p <0.05, Spearman) between the gold-standard variables of disease severity (SARA and VA) and the other clinical variables, in order to explore which will be probably validated in a study with power. SARA correlated (rho) with NESSCA (0.94), CCFS (0.88), PATA (0.92), 8-MW (0.98), and ALVC (0.89). Visual acuity (VA) correlated with INAS (0.85), ALVC (0.81) and NEI-FVQ 25 (0.89). INAS also correlated with ALVC (0.88).

Conclusão

ALVC stood out as the best candidate for a biomarker of disease progression in SCA7, since it was the first first clinical alteration detected in still an asymptomatic carrier. Macular thickness in SS-OCT seems to be another good candidate. ALVC also correlated well with both gold-standards of disease progression (SARA and VA).

Realização

Realização - CBO

Organização

Arx

Transportadora Aérea Oficial

Latam

Transportadora Oficial

Shuttle

Agência de Transfer Oficial

ClaraTur

Agência Oficial

Naja Turismo

Agência Web

Sistema de Gerenciamento desenvolvido por Inteligência Web

Cota Platina

Apoio

UNIMED

Apoio Institucional

SNNO
Sociedade Cearense de Oftalmologia

61º Congresso Brasileiro de Oftalmologia

6 a 9 de setembro | Fortaleza | Ceará | Brasil