June 2021
Volume 62, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2021
Retinal degeneration in abetalipoproteinemia
Author Affiliations & Notes
  • Vasily M. SMIRNOV
    Genetics, Institut de la vision, Paris, Île-de-France, France
    Faculté de Médecine, Universite de Lille, Lille, Hauts-de-France, France
  • Fanny Mochel
    Department of Genetics and Reference Center for Adult Neurometabolic diseases, Institut du Cerveau et de la Moelle Épinière, Paris, France
  • Saddek Mohand-Said
    Institut de la vision, Paris, Île-de-France, France
    Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris, Île-de-France, France
  • Camille Andrieu
    Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris, Île-de-France, France
  • Christel Condroyer
    Genetics, Institut de la vision, Paris, Île-de-France, France
  • Jose Alain Sahel
    Institut de la vision, Paris, Île-de-France, France
    University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, United States
  • Christina Zeitz
    Genetics, Institut de la vision, Paris, Île-de-France, France
  • Isabelle Audo
    Genetics, Institut de la vision, Paris, Île-de-France, France
  • Footnotes
    Commercial Relationships   Vasily SMIRNOV, None; Fanny Mochel, None; Saddek Mohand-Said, None; Camille Andrieu, None; Christel Condroyer, None; Jose Sahel, None; Christina Zeitz, None; Isabelle Audo, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science June 2021, Vol.62, 3216. doi:
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    • Get Citation

      Vasily M. SMIRNOV, Fanny Mochel, Saddek Mohand-Said, Camille Andrieu, Christel Condroyer, Jose Alain Sahel, Christina Zeitz, Isabelle Audo; Retinal degeneration in abetalipoproteinemia. Invest. Ophthalmol. Vis. Sci. 2021;62(8):3216.

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      © ARVO (1962-2015); The Authors (2016-present)

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Purpose : Genetic defects in MTTP are responsible for abetalipoproteinemia, combining spinocerebellar and retinal degeneration. Retinal findings in abetalipoproteinemia are only infrequently reported. We provide a detailed phenotypic description of the retinal degeneration linked with MTTP variants in a cohort of retinitis pigmentosa (RP) patients.

Methods : Patients previously diagnosed with abetalipoproteinemia and patients with gene defects in MTTP identified through next generation sequencing were investigated at the national reference center for rare ocular diseases of Quinze-Vingts hospital. Best corrected visual acuity (BCVA), slit-lamp examination, Goldman perimetry, full field electroretinography (ffERG) and multimodal imaging including color photos, short (SWAF) and near infrared wavelength autofluorescence, optical coherence tomography (OCT) were done for all patients.

Results : Four female patients from four unrelated families were selected. Median BCVA at baseline was 20/40 (range: 20/25 – 20/250). ffERG showed cone-dominated responses. Isopter V4e of Goldman visual field was constricted in all patients. Three patients had fundus findings typical of RP. Two had atrophic patches at the posterior pole. One had angioid streaks and “peau d'orange” aspect. SWAF showed various features. One patient had a ring of increased autofluorescence; another had a water-shed hyperautofluorescent line beneath the macula. One individual had numerous hyperautofluorescent dots scattered over the posterior pole. One patient had confluent hypoautofluorescent patches with scalloped edges.OCT showed a destruction of outer retinal layers outside the macula in all patients. In one individual OCT discovered a type 2 subretinal neovascularization.Two patients had prominent ataxia and peripheral sensitive-motor neuropathy. One patient developed a parietal hemorrhage related with low vitamin K plasmatic level. One patient developed an acute myeloid leukemia. Two patients are free of neurological symptoms to date. All patients descended from inbreed pedigrees. Three individuals harbored known homozygous variants in MTTP. Genetic data were lacking for one patient.

Conclusions : Abetalipoproteinemia represents 0.2% of our RP cohort. Retinal degeneration in abetalipoproteinemia can take various and atypical aspects. It could be the first clinical sign of the disease. On the basis of these findings, we strongly recommend adding MTTP to inherited retinal degeneration gene panels.

This is a 2021 ARVO Annual Meeting abstract.




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