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MALATTIA LEVENTINESE [1 record]
Record 1 - internal organization data 2025-08-27
Record 1, English
Record 1, Subject field(s)
- Visual Disorders
Record 1, Main entry term, English
- Doyne's honeycomb retinal dystrophy
1, record 1, English, Doyne%27s%20honeycomb%20retinal%20dystrophy
correct, noun
Record 1, Abbreviations, English
- DHRD 2, record 1, English, DHRD
correct, noun
Record 1, Synonyms, English
- Doyne honeycomb retinal dystrophy 3, record 1, English, Doyne%20honeycomb%20retinal%20dystrophy
correct, noun
- DHRD 4, record 1, English, DHRD
correct, noun
- DHRD 4, record 1, English, DHRD
- Doyne's honeycomb dystrophy 5, record 1, English, Doyne%27s%20honeycomb%20dystrophy
correct, noun
- Doyne honeycomb dystrophy 6, record 1, English, Doyne%20honeycomb%20dystrophy
correct, noun
- malattia leventinese 7, record 1, English, malattia%20leventinese
correct, noun
- ML 8, record 1, English, ML
correct, noun
- MLVT 9, record 1, English, MLVT
correct, noun
- ML 8, record 1, English, ML
- autosomal dominant drusen 10, record 1, English, autosomal%20dominant%20drusen
correct, noun
- ADD 11, record 1, English, ADD
correct, noun
- ADD 11, record 1, English, ADD
- familial dominant drusen 9, record 1, English, familial%20dominant%20drusen
correct, noun
Record 1, Textual support, English
Record number: 1, Textual support number: 1 CONT
Doyne honeycomb retinal dystrophy (DHRD)/malattia leventinese (ML) is an autosomal dominant, progressive retinal disorder characterized by massive central retinal drusen often partly coalescent forming a characteristic honeycomb‐like pattern. Debut of vision loss often occurs in early to mid‐adulthood, and the degree varies. A single variant in EFEMP1: c.1033C>T (R345W) has been identified as the cause in all cases. 12, record 1, English, - Doyne%27s%20honeycomb%20retinal%20dystrophy
Record 1, French
Record 1, Domaine(s)
- Troubles de la vision
Record 1, Main entry term, French
- malattia leventinese
1, record 1, French, malattia%20leventinese
correct, feminine noun
Record 1, Abbreviations, French
Record 1, Synonyms, French
Record 1, Textual support, French
Record number: 1, Textual support number: 1 CONT
La malattia leventinese [...] est une maladie dégénérative héréditaire de la rétine, présente dans le monde entier, mais particulièrement fréquente au Tessin. [...] Les premiers signes de la maladie se reconnaissent aux dépôts blancs (druses) dans la zone de la macula. Ces dépôts deviennent de plus en plus fréquents au fil du temps et s'amassent pour former un seul grand dépôt. [...] La maladie est transmise de génération en génération [...] 2, record 1, French, - malattia%20leventinese
Record number: 1, Textual support number: 1 OBS
La malattia leventinese est liée à une mutation dans le gène EFEMP1 (une seule mutation connue, mutation faux-sens R345W). 3, record 1, French, - malattia%20leventinese
Record 1, Spanish
Record 1, Textual support, Spanish
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