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HEREDITARY MACULAR DYSTROPHY [2 records]

Record 1 2025-08-27

English

Subject field(s)
  • Visual Disorders
  • Genetics
CONT

While aging or risk factors such as smoking cause common forms of macular degeneration, macular dystrophy is linked to genetic mutations that—for no apparent reason—trigger degradation of retinal cells. Some forms of macular dystrophy appear in childhood, and other forms appear in adulthood. However, it sometimes is difficult to distinguish common macular degeneration from inherited macular dystrophy because of the similarity of symptoms, including decreased visual acuity and loss of central vision.

OBS

Stargardt disease and Best disease are examples of macular dystrophies.

French

Domaine(s)
  • Troubles de la vision
  • Génétique
CONT

Les dystrophies maculaires héréditaires (DMH) sont un groupe de maculopathies très hétérogènes cliniquement et génétiquement, à l'origine d'une baisse visuelle centrale bilatérale plus ou moins sévère. Elles peuvent se révéler dans l'enfance, mais aussi à l'âge adulte, ce qui mène parfois à des diagnostics erronés. [...] Une dystrophie maculaire héréditaire (DMH) doit être évoquée devant : un âge de début des symptômes avant 50 ans; une atteinte maculaire bilatérale concomitante et symétrique; une histoire familiale évocatrice de dystrophie rétinienne; après exclusion d'une cause toxique (antipaludéens de synthèse, tamoxifène, pentosan sodique...), inflammatoire ou dégénérative.

OBS

La maladie de Stargardt et la maladie de Best sont des exemples de dystrophies maculaires.

Spanish

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Record 2 2025-08-26

English

Subject field(s)
  • Visual Disorders
CONT

Central areolar choroidal dystrophy(CACD) is a hereditary retinal disorder that primarily affects the macula. In the early stages, there is subtle, mottled depigmentation in the posterior pole. Ultimately, the depigmentation enlarges into in a well-circumscribed round or oval area of atrophy of the retinal pigment epithelium(RPE) and choriocapillaris in the center of the macula. Patients usually become symptomatic in the [third] to [fourth] decade when a fine, hardly detectable, mottling of the RPE leads to the development of absolute central visual scotomas. Later, between the [fourth] and [seventh] decade of life, progressive macular atrophy leads to a dramatic decline in central visual acuity and severe visual disability. CACD may be autosomal dominant or recessive; however, autosomal-recessive cases are rare. Although CACD has a genetic basis, sporadic cases have been reported.

French

Domaine(s)
  • Troubles de la vision
DEF

Atrophie aréolaire centrale maculaire héréditaire et primitive aux bords nets avec quelques petites taches jaunâtres ressemblant à des druses autour de la lésion ou au pôle postérieur.

Spanish

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